A 42-year-old female presented with pain in the left leg. Pain was mild, dull but constant. On examination there was a difference in the circumference of the calves, with the left leg being 2.5 cm (1.0 inch) bigger. There was also a 1.5 cm increased circumference in the left thigh area. Palpation of the left calf revealed tenderness in the popliteal fossa and halfway down the posterior aspect of the calf. This was the first such episode in her life.
Her past medical history was significant only for multiple (3) spontaneous abortions. Impedance pletismography confirmed deep venous thrombosis. Which of the following findings is most likely in the laboratory results of this patient?
Educational objective: Review clinical and laboratory features of antiphospholipid syndrome.
This patient presents with confirmed deep venous thrombosis and a remarkable history of spontaneous abortions. This constellation of symptoms and signs is highly suggestive of antiphospholipid antibody syndrome (antibodies directed against either phospholipids or plasma proteins bound to anionic phospholipids). The most common symptoms are venous and arterial thrombosis, recurrent fetal losses, and thrombocytopenia. Other possible findings include livedo reticularis, migraine headaches, Raynaud’s disease, hemolytic anemia, neurologic dysfunction, renal disease, pulmonary hypertension, avascular necrosis, and adrenal insufficiency.
In rare cases, primary antiphospholipid syndrome may result in multiorgan failure because of multiple vessel occlusions.
Educational objective: Clarification of basis for false positive results on STS in patients with antiphospholipid syndrome.
Many patients with antiphospholipid antibody syndrome (APL) have a false positive serologic test for syphilis (STS). Some patients with systemic lupus erythematosus also have false positive STS. Such patients have an increased incidence of thrombotic events, livedo reticularis, and migraine as well as fewer successful pregnancies. One of the four antibodies seen in APL is anticardiolipin antibody, and false positive reaction occurs because the syphilis antigen used for serologic tests is embedded in cardiolipin to which the antibody then reacts to produce a false positive result. However, STS should not be used to screen for APL since it has a low sensitivity and specificity.
Educational objective: Review of anticoagulation guidelines in patients with antiphospholipid syndrome.
Yearly incidence of the arterial or venous thrombosis in those patients who are not anticoagulated is about 30%.
Attempts to use aspirin for therapy were unsuccessful. In the studies using warfarin and maintaining INR below 3.0 (with or without aspirin) some protection from thrombosis was found.
High-intensity dose warfarin therapy, where INR was kept over 3.0 (with or without aspirin) resulted in marked decrease in new thrombotic events to 1.3% of patients per year. It is important to know, however, that with such therapy incidence of major bleeding is higher and if therapy is stopped major thrombotic events recur (incidence is highest in first 6 months after cessation of therapy).
Educational objective: Review forms of localized scleroderma.
Forms of localized scleroderma include: Localized morphea – One or more circumscribed patches of skin with sclerotic changes. Generalized morphea – Multiple areas of indurated sclerotic skin localized mostly on the trunk and limbs. Similar clinical and histological features as in localized morphea but more extensive. Linear Scleroderma – Most common form of childhood onset scleroderma. Linear areas of atrophic sclerosed skin, which often follow a dermatomal distribution and are usually asymmetric. It is associated with growth retardation of the affected limb. En coup de sabre – Linear sclerotic lesion, which involves skin and underlying tissues. Often involves the scalp or face (resembles the consequences of a blow by the sabre).
Limited cutaneous scleroderma is a form of systemic sclerosis, as are diffuse cutaneous scleroderma, scleroderma sine scleroderma, pre-scleroderma, environmentally induced scleroderma, and overlap syndromes (with other connective tissue diseases).
Educational objective: Review therapy and possible mechanism for renal involvement in scleroderma.
Blood pressure control is the mainstay of therapy in scleroderma renal crisis. Aggressive treatment of hypertension can stabilize or even improve renal function in up to 55-70% of cases. The ACE inhibitor captopril is the agent of choice, leading to improvement in blood pressure in up to 90% of patients by reversing angiotensin II induced vasoconstriction (some patients have even regression of the skin changes and improvement of Raynaud’s phenomenon - with no clear explanation). It is not known if other ACE inhibitors or the angiotensin II receptor antagonists (losartan) would be equally effective. Captopril has a sulfhydryl group, like penicillamine, and it is possible that the sulfhydryl group contributes to the beneficial effect.
Sudden lowering of the blood pressure may, however, lead to diminished renal perfusion and superimpose acute tubular necrosis upon the kidneys. Because of that, parenteral antihypertensive agents (nitroprusside or labetalol) should be avoided.
Prazosin and nifedipine are not used primarily for renal disease but rather for the treatment of Raynaud’s syndrome in patients with Scleroderma. (Nifedipine may be added to captopril if the response is inadequate.)
Educational objective: Review diagnostic criteria for rheumatoid arthritis.
The American College of Rheumatology criteria for rheumatoid arthritis includes: morning stiffness for at least one hour that is present for at least 6 weeks, symmetric joint swelling, swelling of the wrist, metacarpophalangeal or proximal interphalangeal joints for six or more weeks, rheumatoid nodules, serum rheumatoid factor by a method positive in less than 5% of normal, hand roentgenogram changes typical of rheumatoid arthritis that must include erosions or unequivocal bony decalcification.
Educational objective: Review therapy for rotator cuff tendonitis.
The response to the subacromial injection suggests that the patient’s primary injury is impingement of the rotator cuff. The involvement is probably tendonitis rather than a tear. Imaging is not indicated and should be left to the discretion of an orthopedic surgeon if referral is considered. MRI examination of shoulders in asymptomatic patients in this age group often shows rotator cuff injury but it is not indicated in this patient. The residual passive range of motion loss is problematic and indicates a stiffening (“frozen”) shoulder. Subacromial corticosteroid injection can help decrease the inflammation in the subacromial space. Specific shoulder exercises or referral to physical therapy will usually correct the reduced range of motion that resulted from several weeks of limited use of the shoulder; they are more successful if the patient has increases in active ranges of motion after injection of the shoulder.
Educational objective: Review features of gouty arthritis.
Synovial fluid analysis is the only definitive method of diagnosing gouty arthritis. Joint fluid aspiration and demonstration of characteristic needle-shaped negatively birefringent monosodium urate crystals by polarizing microscopy confirms the diagnosis. Gram stain and culture should be performed on all fluid to rule out infection. Urinary uric acid excretion of more than 800 mg/day suggests overproduction and normal serum uric acid level does not rule out gout.
Joint X-rays may demonstrate erosions in late disease. In the United States, renal stones are in 10% of cases caused by uric acid and if history suggests, an abdominal flat plate should be obtained and possibly IV pyelography (since stones are often radiolucent).
Educational objective: Review therapy for gouty arthritis.
Colchicine inhibits neutrophil activation by inhibiting crystal-induced protein tyrosine phosphorylation and thus diminishing the inflammatory reaction in gout. Colchicine may be give orally and intravenously. Most patients can’t tolerate oral colchicine therapy due to the GI side effects. Intravenous administration is potentially dangerous (agranulocytosis, aplastic anemia, myopathy and alopecia.) A fatal dose of colchicine can be as little as 8 mg in 24 hours.
Nonsteriodal anti-inflammatory drugs and intra-articular glucocorticoids may also be used in the therapy of acute gouty arthritis.
During acute attacks, the administration of allopurinol is contraindicated. Acute attacks of gout are more frequent during initial therapy with allopurinol. This may be due to active dissolution of microcrystalline deposits of sodium urate (tophi) resulting in a transient period of hyperuricemia and crystal deposition in joint tissue.
Educational objective: Review features of Wegener’s granulomatosis.
Wegener’s granulomatosis is systemic necrotizing, granulomatous vasculitis of the small veins and arteries. It primarily affects the upper and lower respiratory tract and kidneys. Respiratory tract involvement manifests as recurrent otitis media, sinusitis, inflammation of the tracheobronchial tree with mucosal erosions, and pneumonitis with multiple cavitations. In addition, saddle nose deformity may occur as well as arthritis, neuropathies, and eye inflammation. Laboratory data are usually nonspecific but c-ANCA (antibodies against proteinase-3 (PR-3) and myeloperoxidase that are found in azurophilic granules of the PMN leucocytes) is very specific, although it still can’t substitute for tissue diagnosis. There are also reports about good correlation between c-ANCA titer and activity of the disease.
Double-stranded DNA is related to SLE, HLA-B27 to Ankylosing spondylitis, Reiter’s syndrome and similar diseases. Jo-1 is related to polymyositis and anticentromere antibody to CREST syndrome.
An 18-year-old male presents with pain and swelling in the left calf up to the popliteal fossa. Pain started suddenly during a game of basketball and gradually worsened over the next several hours.
On examination there is swelling of the calf and knee joint, tenderness on palpation in the calf and posterior aspect of the knee joint. The left calf is warmer than the right one. What is the most likely diagnosis?
Educational objective: Review clinical signs and symptoms of Baker’s cyst rupture.
Baker’s cysts result from the build-up of synovial fluid in the knee. This condition is also called popliteal bursitis. It most commonly affects males between 15-30 years of age. In 50% of cases it is continuous with the knee joint. The cyst is best seen and palpated with the patient standing. Symptoms consist of local pain, limitation of knee extension, and symptoms related to compression of adjacent structures, popliteal artery, veins and tibial nerve. Softening of the cyst with knee flexion is called Foucher’s sign.
Rupture of the Baker’s cyst is usually due to trauma and can cause acute inflammation, pain, and swelling that can extend down into the posterior calf.
Symptoms may closely resemble symptoms of thrombophlebitis, and sometimes it is necessary to rule this out by objective diagnostic tests.
Educational objective: Review differential diagnosis for Baker’s cyst rupture.
Differential diagnosis of popliteal swelling includes the following conditions: Phlebitis (superficial) Neoplasm (lipoma, neurofibroma, osteogenic sarcoma, fibrosarcoma, etc.) Lymphadenitis Aneurysm of the popliteal artery Trauma (fractures, contusions, traumatic neuromas) Ruptured tendon DVT Osteomyelitis Ruptured varicose vein Popliteal abscess Baker’s cyst
Educational objective: Review clinical presentations and diagnosis of myasthenia gravis.
This patient appears to have myasthenia gravis. The diagnostic approach to this condition begins with a physical examination and then proceeds to more specific testing. The major aim of the physical examination is to demonstrate fatigability of the different muscle groups.
Once it has been shown that muscles weaken with exercise and improve with rest, the diagnosis of myasthenia gravis can be confirmed most easily by an IV injection of Tensilon (anticholinesterase inhibitor – edrophonium chloride) Tensilon begins to act in 30 to 60 seconds and the effect lasts 5 to 10 minutes. This potentiation of the muscarinic effects of acetylcholine is not without risk (especially in the elderly) so atropine (0.5-2.0 mg) should be available if severe cholinergic reaction occurs (signs include – sweating, increased weakness and increase in the volume of respiratory secretions, laryngospasm, bradycardia, hypotension, nausea, and vomiting).
To minimize risk, a test dose of 1 mg should be given. After 1 minute an additional 4 mg of Tensilon should be given. If no change in the examination is noted in one minute, an additional 5 mg is given and the response quantified. Quantifying the response can be a problem. Grip strength with a dynamometer is useful if grip muscles are affected, since this can be quantified and the response repeated.
An elderly male complains of severe muscle weakness in his thigh muscles and proximal arm muscles, although this weakness is mild. He states that his weakness is worse in the morning immediately after getting out of bed and improves during the day.
On physical examination it is apparent that muscle strength increases with repetition of the grip strength test and later diminishes. Which of the following tests should be included in the workup of this patient?
Educational objective: Review features and significance of Eaton-Lambert syndrome.
Symptoms in this man are consistent with Eaton-Lambert syndrome. This syndrome shares the same pathologic site with myasthenia gravis (the neuromuscular junction) and has a similar path physiology (an autoimmune disease). Eaton-Lambert syndrome is usually associated with malignancy. Up to 70% of these patients have associated small cell lung cancer and this disease must be ruled out in every patient with presenting symptoms of Eaton-Lambert syndrome.
Clinical presentation of the Eaton-Lambert syndrome includes weakness that is typically seen early in the hip girdle, making it difficult for the patient to rise from a chair or to climb the stairs. Less dramatic is shoulder girdle weakness. Involvement of the bulbar muscles or diplopia is rare, but ptosis is frequently seen. Symptoms are also likely to be more prominent in the morning. Autonomic dysfunction may cause erectile dysfunction and dry mouth.
Differentiation from myasthenia gravis may be difficult since patients with Eaton-Lambert syndrome have a positive AChR-Ab test in 13% of cases.
Educational objective: Emphasize association of polymyalgia rheumatica and temporal arteritis.
Polymyalgia rheumatica (PMR) is a condition that has marked association with giant cell arteritis (temporal arteritis). Prevalence of PMR is about 700 per 100,000 in population older than 50.
The PMR is seen in about 50% of patients with giant cell arteritis. About 15% of patients with PMR as the primary diagnosis eventually develop giant cell arteritis. There is also a group of patients that exhibit manifestations of both disorders occurring at different times.
In addition, both disorders have association with HLA-DR4. Other conditions in this question are rheumatic disorders not associated with PMR.
A 54-year-old female patient presented with 2 months of pain, morning stiffness in her shoulders and hips, and feeling weak. She also complained of about one week of headache and jaw pain. On clinical examination she was well developed, there was no muscle weakness or atrophy, and range of motion of all extremities was within normal limits. Both shoulder regions and hips were moderately tender upon palpation. There was no apparent swelling. Both temporal areas were also moderately tender on palpation without signs of swelling or inflammation. There was no tenderness over temporomandibular joints and range of motion of the jaw was normal.
Her erythrocyte sedimentation rate was 86 mm/h (Westergren). Her vital signs were as follows: Temp - 38.9ºC, Pulse – 87 min., Resp – 14, BP – 123/78. Blood cultures were negative. The CK level and thyroid function tests were normal. All other routine laboratory findings were within normal limits. Which of the following is the appropriate course of action for this patient?
Educational objective: Review the question of temporal artery biopsy in patients with polymyalgia rheumatica.
An important issue in question is whether a temporal artery biopsy should be performed in patients with polymyalgia rheumatica.
Several reports suggest that temporal artery biopsy has a very low yield in the population of patients without clinical signs of temporal arteritis but the yield may be as high as 55% in those who have these clinical signs (temporal artery tenderness, headache, jaw pain, visual loss, and evidence of noncranial ischemia – arm claudication, etc.)
This patient fulfills the criteria for the diagnosis of polymyalgia rheumatica but also has some symptoms suggestive of giant cell arteritis (temporal arteritis) (headache, jaw pain, and tenderness in temporal areas). Thus, she needs to have a temporal artery biopsy performed. However, corticosteroid therapy should be instituted immediately since temporal arteritis is a potentially debilitating disease and has been shown that biopsy results are not affected by prior corticosteroid therapy.
Educational objective: Review therapy of polymyalgia rheumatica.
Therapy for polymyalgia rheumatica consists of steroids. Depending upon the patient’s weight and severity of symptoms, a starting dose is 7.5-20 mg/day. Patients usually respond very quickly (even after the first dose), but the dose should be increased if the symptoms are not well controlled within one week (it is important to exercise the possibility of giant cell arteritis or paraneoplastic syndrome in those patients).
The effective dose of prednisone should be maintained 2-4 weeks after aching and stiffness have subsided. The dose then should be reduced every 2-4 weeks by 10% until the lowest effective dose is reached for maintenance therapy.
If therapy is stopped, relapse occurs in about 25-50% of patients. Relapse is more common in patients who are tapered faster than the suggested regimen.
Educational objective: Review therapy for renal involvement in patients with SLE.
Patients present with nephritic or nephrotic syndromes. If urinary abnormalities are detected, renal biopsy is often performed. Five patterns of renal disease are seen on biopsy: type I - normal; Type II - mesangial proliferative; type III - focal and segmental proliferative; type IV - diffuse proliferative and type V - membranous nephropathy. Individuals with type I and II disease require no treatment. Patients with extensive type III lesions and all type IV lesions should receive aggressive immunosuppressive therapy. Corticosteroids are the main stay of treatment (methylprednisolone 1 gm intravenously daily for three days followed by prednisone 60 mg orally daily for four-six weeks) but are associated with many side effects. Cyclophosphamide can be added for patients with inadequate renal response or aggressive lesions. Cytotoxic agents appear to improve long-term renal survival in those with type IV nephritis.
The patient in question presents with a clinical picture suggesting Behcet’s disease. Most patients initially manifest oral ulcers (aphtae) which are recurrent and last about 1-2 weeks. Genital ulcerations occur in about 75% of patients and are similar to the oral ulcers. Most commonly those ulcers are found on the vulvas of females and scrotums of males (but any mucosal surface may be affected). The pathergy test is commonly positive in patients with Behcet’s disease (10-20% in North American and North European populations. 50-75% in Eastern patients), and consist of development of a papule bigger than 5 mm in diameter in the place of the skin prick with a needle (Tuberculin skin test is not in any way associated with Behcet’s disease).
Ocular disease is another major feature of the Behcet’s disease and occurs in 25-75% of patients (depending on population, and it is less in the North American population). Anterior uveitis may be a major presenting feature, and is most commonly bilateral and recurrent. Other forms of ocular involvement include retinal vasculitis, hypopyon, neovascularization, secondary cataract and glaucoma.
Urethritis is a feature of Reiter’s syndrome but not Behcet’s disease.
Educational objective: Review pulmonary manifestation of SLE.
Systemic lupus erythematosus (SLE) is a disease that affects virtually all organ systems. Several different patterns of pulmonary involvement are recognized. Most common is pleuritis, which may be seen in up to 45% of patients with SLE. Pleural effusion is seen in concert with pleuritis, but only in about 20% of patients. Cough is often mentioned as a feature of pulmonary involvement of SLE, but it appears that cough is most often caused by upper respiratory infections.
Full-blown pneumonitis is relatively rare (1-12%), presents with a clinical picture of pneumonia (even with pulmonary infiltrates), but shows no apparent infection, and pathogens cannot be isolated.
Chronic pneumonitis (fibrosing) appears to follow acute pneumonitis in some patients (usually those with longstanding lupus, and those with anti-Ro antibodies appear to be more prone to develop chronic pneumonitis).
Pulmonary hypertension is a rare complication in SLE and is more commonly associated with scleroderma, mixed connective tissue disease, and rheumatoid arthritis.
Educational objective: Understand skin manifestation of SLE.
The classic acute butterfly rash, characterized by erythema in a malar distribution over the cheeks and bridge of the nose is the most common skin manifestation of the SLE. It is seen in about one half of the patients and usually appears after exposure to sun (due to UV-B exposure). The rash usually lasts for hours to a few days, rather than months, but it frequently recurs. The rash may precede other signs and symptoms of SLE for months or even years, or may be accompanied with other signs and symptoms of acute SLE. The affected skin appears slightly edematous, and is warmer than surrounding nonaffected skin. Rubbing alcohol into affected skin may aggravate the rash (important to know since many sunscreens contain alcohol).
Educational objective: Review of drugs that may induce lupus erythematosus.
Drugs may aggravate existing lupus, but more common and well-defined is the syndrome of the drug-induced lupus. This syndrome is similar to spontaneous lupus but also has some different clinical and immunologic features. A variety of drugs may induce lupus-like syndrome - medications that are metabolized by acetylation. The disease is more likely to develop and to develop sooner in patients who are slow acetylators because of genetically mediated decrease in the hepatic synthesis of N-acetyltransferase (acetylation is not a risk factor for spontaneous lupus).
Medications that definitely may cause drug-induced lupus are: Procainamide, hydralazine, isoniazid, methyldopa, chlorpromazine and quinidine
Medications that possibly can cause drug-induced lupus are phenytoin, mephenytoin, trimethadione, ethosuximide, quinidine, lithium, nitrofurantoin, captopril, glyburide, cimetidine, carbamazepine, sulfasalazine, hydrochlorothiazide, beta-blockers, antithyroid drugs, sulfonamides, and interferon-alpha.
Educational objective: Review autoantibodies associated with lupus erythematosus.
All of the above mentioned autoantibodies are associated with lupus. The ANA is one of the most sensitive autoantibodies for detection of lupus, but it is not specific enough to allow for diagnosis. Double stranded anti DNA antibodies are much more specific, but are not so sensitive (Only 30% sensitive). The Anti-Ro antibodies appear to confer risk from chronic pneumonitis and fibrosis of the lungs in the patients with SLE.
Antihistone antibodies are important immunologic characteristics of drug-induced lupus and are present in more than 95% of cases, particularly in those patients who take procainamide, hydralazine, chlorpromazine, and quinidine. All other autoantibodies are uncommon in this disorder. Antihistone antibodies are also seen in about 80% of patients with idiopathic lupus.
A 47-year-old female presented in the office with several months’ history of right shoulder pain and weakness. She stated that initially she was unable to raise her right hand over her head without pain and for the last several weeks she has not been able to lift her right arm unless she pushes it with her left.
On physical examination tenderness was elicited by pressure under the acromion. Passive abduction of the arm produced pain starting when the arm was about 80 degrees abducted. There was inability to abduct arm actively for more than 60 degrees despite lack of pain. There was also weakness of external rotation. There was no muscle atrophy or swelling of the shoulder, and x-ray of the shoulder did not reveal any abnormalities. Which of the following is the most likely diagnosis?
Educational objective: Review important clinical features of rotator cuff tendinitis and tear.
Weakness of abduction and external rotation is highly suggestive of a rotator cuff tear. Tendinitis of the rotator cuff presents with all of the above symptoms except weakness. The fact that weakness is of relatively recent onset in comparison with pain suggests initial tendonitis complicated with tear. Both conditions affect the tendons of the supraspinatus and infraspinatus muscles and in the case of long-standing tear, muscle atrophy may be seen.
Frozen shoulder syndrome is characterized by limitation of passive range of motion; associated pain may or may not be present. Acromioclavicular osteoarthritis is characterized by pain and swelling over the acromioclavicular joint and aggravation of pain with downward traction and forced passive adduction.
Biceps tendonitis is characterized by anterior shoulder pain aggravated by lifting and overhead pushing and pulling. Tenderness is located in the bicipital groove. However, sometimes there is referred pain in the anterior aspect of the shoulder with rotator cuff tendonitis, and local injection of anesthetic should be used to differentiate the real source of pain and tenderness.
Ref: Simon SR, Black HR, Moser M at all. Cough and ACE inhibitors Arch Intern Med 1992: 152(8), 1698-700.
A 34-year-old morbidly obese female presents in the office complaining of burning pain and occasional numbness in her right thigh. She is otherwise healthy. Her last office visit was a year ago and at that time no acute or chronic medical problem, besides obesity, was discovered. In the meantime the only change is a 13-kilogram weight gain. Her pain has been present for the last three months, but in the beginning was more a funny feeling when her clothes rubbed against this area; later it became painful. Pain is not limiting her activity but is getting worse, and she is worried.
Physical examination reveals an area on the lateral aspect of lateral thigh (approximately middle third) where light stroking of the skin by fingernail causes sensation of burning pain. Neurologic examination is otherwise entirely negative. Examination of hip, back and sacroiliac joints are also within normal limits.
Which of the following is the most likely diagnosis?
Educational objective: Review clinical features of meralgia paresthetica.
Compression neuropathy of the lateral femoral cutaneous nerve (meralgia paresthetica) is a condition in which the nerve is compressed at the exit from the pelvis and entrance into the thigh. The main causes are scarring of the tissue in the vicinity of the lateral aspect of the inguinal ligament, tight garments around the waist, and obesity with an overlying panniculus.
Patients complain of burning pain in the specific area of the thigh (middle third of lateral aspect), or numbness and tingling or funny feeling when clothes rub over the same area.
Hypesthesia or dysesthesia of the area is found on examination, but the rest of the neurologic examination is entirely normal, as are hip, back, knee and sacroiliac joint examinations. Sometimes the area might be more anteriorly due to variation in distribution of the lateral femoral cutaneous nerve. X-ray examination is not indicated since the clinical picture is typical.
Avoidance of tight garments, loss of weight, and reassurance are the mainstays of therapy. In intractable cases carbamazepine or phenytoin may be used. In cases of long-term intractability (months to years) neurosurgical consultation should be obtained.
Ref: Anderson BC. Meralgia Paresthetica. In. Office Orthopedics for Primary Care, Diagnosis and Treatment. W.B. Saunders Company, 1995:76-77.
A 47-year-old female developed marked weakness of the shoulders and thighs. This happened over a period of several days. There was some mild tenderness and minimal atrophy. Symptoms are most prominent when she attempts to rise from the chair, at which time she needs to help herself with her arms, and in the morning when combing her hair. She is otherwise healthy and has not been taking any medications. Her weight was stable in the past and is unaffected with these latest developments.
On physical examination there are no abnormalities of ocular movements; muscles of the forearm and lower legs appear unaffected. Deep tendon reflexes are within the normal range, although they also may be a little reduced. Which one of the following is the most likely diagnosis in this patient?
Educational objective: Differentiate between different causes of proximal muscle weakness.
Polymyositis is a disease of inflammatory nature affecting most commonly the proximal muscles of the upper and lower extremities. Unlike myasthenia gravis and Eaton-Lambert syndrome there is no involvement of the ocular muscles and there is no loss of the muscle power with repetition of the movement (Myasthenia gravis and Eaton-Lambert syndrome are associated with worsening symptoms as the day progresses).
Hyperthyroidism is associated with development of proximal muscle weakness, but this is usually associated with other symptoms of hyperthyroidism (weight loss, temperature intolerance, palpitations, diarrhea, etc.). In addition, onset and progression are usually more gradual.
Muscular dystrophies are disorders that are relatively rare, most of them manifest itself early in life and most of them are slowly progressive. These features make this diagnosis unlikely in this patient.
A 50-year-old female developed weakness of the shoulders and thighs over a period of several days. There is no pain in the affected muscles but there is minimal atrophy. Symptoms are most prominent when she attempts to rise from the chair, at which time she needs to help herself with her arms, and in the morning when combing her hair. She is otherwise healthy and has not been taking any medications. There is no associated skin rash.
On physical examination there are no abnormalities of ocular movements and muscles of the forearm and lower legs appear unaffected. Deep tendon reflexes are mildly reduced. Which one of the following is the most appropriate test for the confirmation of the diagnosis?
Educational objective: Review best diagnostic modalities for diagnosis of polymyositis.
Polymyositis is an inflammatory disorder usually affecting proximal muscles of the upper and lower extremities. It can be associated with malignancies and with skin rash (dermatomyositis). Diagnosis is best confirmed by muscle biopsy. Findings characteristic of the disease include intense inflammatory reaction (infiltration with mononuclear cells) and widespread destruction of the muscle fibers. Associated laboratory findings are not diagnostic but are supportive of diagnosis and include elevated levels of the serum creatine phosphokinase, aldolase, ALT and LDH. Erythrocyte sedimentation rate is commonly elevated. Electromyographic results are abnormal, too.
Educational objective: review important features of Henoch-Schönlein purpura.
This is a classical presentation of hypersensitivity vasculitis (purpura Henoch-Schönlein). The pathohistologic hallmark of the disease is small vessel vasculitis (especially postcapillary venules). Vasculitis is leukocytoclastic. Later in the course of disease mononuclear cells predominate. Disease is caused by immune complexes deposition that contains IgA antibodies. Disease is usually self-limited but chronic cases have been described. Immune complex deposition affects skin, gastrointestinal tract and kidneys. This is the most common vasculitis in children
A 56-year-old female patient with long standing rheumatoid arthritis and high titers of rheumatoid factor, presented in the office with fever, productive cough and some pleuritic pain. Chest x-ray revealed right middle lobe infiltrate.
Laboratory findings revealed the following: WBC-3.3 with 10% of band forms, RBC-2.26 mil/mm3, and 78,000 platelets. Which of the following findings is most likely to also be present in this patient?
Educational objective: Review features of Felty’s syndrome.
This patient most likely suffers from Felty’s syndrome, a condition which consists of chronic rheumatoid arthritis, splenomegaly, neutropenia and in some cases anemia and thrombocytopenia. These patients usually have high titers of rheumatoid factor and subcutaneous nodules. The syndrome is very uncommon in African-American patients. Patients have increased risk for infections because of low number of leucocytes but also because of their dysfunction. It was thought that hypersplenism was responsible for neutropenia but splenomegaly is not consistently found in all patients and splenectomy fails to correct neutropenia in all patients.
A 33-year-old female presented in the office complaining of bilateral pain in hands and wrists. On direct questioning she admits to the pains in many other joints, but these are not as severe and her hands are bothering her the most. Pain is worst in the morning and there is also associated stiffness that improves with activity (usually after 1-2 hours).
On physical examination there is symmetrical involvement of metacarpophalangeal and proximal interphalangeal joints. These joints are erythematous and warm. There is no associated skin rash. Which of the following is least likely to be present in this patient?
Educational objective: Emphasize association of rheumatoid arthritis with HLA-DR4 genotype.
This patient has disease highly likely to be rheumatoid arthritis (RA). Therefore, she will very likely have elevated erythrocyte sedimentation rate. Many of them will be positive for rheumatoid factor (autoantibody), and a somewhat lesser number will be positive for antinuclear antibody.
In addition, she has about a 70% chance to be carrying HLA-DR4 antigen. This form of major histocompatibility complex antigen is highly associated with RA in several populations (although there are some groups in which there is no such association, but rather with HLA-DR1 and HLA-Dw16). A common feature of all these molecules is identical amino acids at positions 67-74 in third hypervariable region on â-chain.
There is no association of RA with HLA-DR2.
A 33-year-old female presented in the office complaining of bilateral pain in hands and wrists. On direct questioning she admits to pains in many other joints, but these are not as severe and her hands are bothering her the most. Pain is worst in the morning and there is also associated stiffness that improves with activity (usually after 1-2 hours).
On physical examination there is symmetrical involvement of metacarpophalangeal and proximal interphalangeal joints. These joints are erythematous and warm. There is no associated skin rash. What is the best choice for initial treatment of her condition?
Educational objective: Review initial treatment for rheumatoid arthritis.
The goals of therapy for RA are relief of pain, reduction of inflammation, maintenance of the joints structure and function, and control of systemic involvement. The first step in therapy should be use of aspirin or other nonsteroidal anti-inflammatory medication to control the symptoms and local inflammation. Disease modifying antirheumatic drugs (DMARDs) should be started as soon as the diagnosis is certain. It often produces a beneficial effect in 2-6 weeks and has become the first line of treatment among the DMARDs. S6teroids are effective in producing immediate effects but side effects limit its use. Gold salts are rarely used now because of the side effects.
Long term dialysis patients are most likely to get amyloid deposition in their joints. The question presents the "classic" presentation of amyloid related joint disease.
The liver, while it could be involved, is not commonly involved.
The presentation is classic for Polymyalgia Rheumatica. It is a clinical syndrome characterized by severe aching and stiffness in the neck, shoulder girdle, and pelvic girdle. Polymyalgia rheumatica causes severe pain in the proximal muscle groups; however, no evidence of disease is present at muscle biopsy. Muscle strength and electromyographic findings are normal. Polymyalgia rheumatica is closely linked to giant cell arteritis (temporal arteritis), but this is believed to be a separate disease process. The patient's history may include the following features: •Pain and stiffness in the proximal muscle groups that usually is symmetrical and worse in the morning •Gel phenomenon (stiffness after prolonged inactivity) •Fever (low grade) •Weight loss •Fatigue •Depression •No weakness •Abrupt onset of symptoms The treatment is prednisone 10 - 20mg/day.
Inclusion body myositis (IBM) is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. The onset of muscle weakness in IBM is generally gradual (over months or years) and affects both proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. Muscle weakness may affect only one side of the body. Falling and tripping are usually the first noticeable symptoms of IBM. For some individuals, the disorder begins with weakness in the wrists and fingers that causes difficulty with pinching, buttoning, and gripping objects. There may be weakness of the wrist and finger muscles and atrophy (thinning or loss of muscle bulk) of the forearm muscles and quadricep muscles in the legs. Difficulty swallowing occurs in approximately half of IBM cases. Symptoms of the disease usually begin after the age of 50, although the disease can occur earlier. IBM occurs more frequently in men than in women. While the CPK can be mildly elevated, the sed rate is not usually elevated.
Fibromyalgia typically presents in young or middle-aged females as persistent widespread pain, stiffness, fatigue, disrupted unrefreshing sleep, and cognitive difficulties, often accompanied by multiple other unexplained symptoms, anxiety and/or depression, and functional impairment of daily living activities. Always combine pharmacologic approaches with nonpharmacologic therapy in the treatment of fibromyalgia, especially stress management, aerobic exercise, and, in some cases, psychotherapy. Aggressively treat comorbid depression. Opioids, hypnotics, anxiolytics, and certain skeletal-muscle relaxants must be used with caution because of the potential for abuse. Tricyclic antidepressants are of proven benefit. Certain anticonvulsants and antidepressants clearly decrease pain sensitivity. Corticosteroids and nonsteroidal anti-inflammatory medications are useful only as management for coexisting inflammatory processes. Pharmacologic and nonpharmacologic treatment of poor sleep is crucial for improving the patient's overall sense of well-being.
Polyarteritis Nodosa is associated with Hepatitis B!! Classic polyarteritis nodosa (PAN or c-PAN) is a systemic vasculitis characterized by necrotizing inflammatory lesions that affect medium and small muscular arteries, preferentially at vessel bifurcations, resulting in microaneurysm formation, aneurysmal rupture with hemorrhage, thrombosis, and, consequently, organ ischemia or infarction. The cause of primary idiopathic PAN is unknown. Some syndromes, including rheumatic diseases, malignancies, and infections have been associated with clinical syndromes indistinguishable from idiopathic PAN. Rheumatoid arthritis (RA) and Sjögren syndrome have been associated with PAN. Notably, the incidence of RA-associated vasculitis has decreased greatly since the 1980s, possibly attributable to improvements in the management of RA. Hematologic malignancies, such as hairy cell leukemia and Hodgkin's Lymphoma, have been associated with PAN–like vasculitides. Viral infections, including HIV infection, hepatitis C infection and, most strongly, HBV infection have been associated with PAN. Other infectious organisms have been reported in association with PAN or PAN–like diseases, but causal evidence is inconsistent. These organisms include varicella-zoster virus, parvovirus B-19, cytomegalovirus, human T-cell leukemia virus, streptococcal species, Klebsiella species, Pseudomonas species, Yersinia species, Toxoplasma gondii, Rickettsiae, trichinosis, and sarcosporidiosis. Hepatitis C may be linked to cutaneous PAN, a benign limited form of PAN. HBV was once the cause of up to 30% of PAN cases.10 Widespread use of the hepatitis B vaccines has significantly decreased the incidence of HBV-PAN, which is now estimated to account for less than 8% of all PAN cases.
REMEMBER: Osteoarthritis: 200 - 2,000 Rheumatoid: 5,000 - 50,000 Septic: 50,000 - 100,000
Osteogenesis imperfecta is disorder of congenital bone fragility caused by mutations in the genes that codify for type I procollagen. It's autosomal dominant and presents with fragile bones and blue sclera (and no, probably NOT that blue!! But at least you won't forget!. . .and yes I made up Sinatranosis. . "Old Blue Eyes") Also remember Ehlers-Damlos gives blue sclera as well.
Gout is a common disorder of uric acid metabolism that can lead to deposition of monosodium urate crystals in soft tissue, recurrent episodes of debilitating joint inflammation, and, if untreated, joint destruction and renal damage. Gout is definitively diagnosed based on the demonstration of urate crystals in aspirated synovial fluid which are shaped like needles or toothpicks with pointed ends. Urate crystals are negatively birefringent, meaning that the crystals are yellow when aligned parallel to the slow ray of the compensator and that they are blue when they are perpendicular. Pseudogout crystals (calcium pyrophosphate, and yes they are the same!) are rod-shaped with blunt ends. Pseudogout crystals are positively birefringent. Pragmatically, this means that their colors are opposite those of gout. Thus, pseudogout crystals are blue when aligned parallel to the slow ray of the compensator and yellow when they are perpendicular.
Heberden nodes. They are a sign of osteoarthritis and are caused by formation of osteophytes (calcific spurs) of the articular cartilage in response to repeated trauma/inflammation at the joint.
Drug-induced lupus erythematosus can arise months to years after exposure to drugs prescribed to treat various medical conditions (eg, antihypertensives, antibiotics, anticonvulsants). The most common drugs that cause drug-induced lupus erythematosus are hydralazine, procainamide, quinidine, isoniazid, diltiazem, PTU, and minocycline.
Toxicity limits the use of methotrexate. Approximately 10-30% of patients with RA discontinue methotrexate because of toxicity. A spectrum of toxicities have been reported including nodulosis, hypersensitivity pneumonitis (2-5%), CNS toxicity (1-35%), post-dosing reactions (10%), gastrointestinal (GI) symptoms, such as nausea, vomiting, abdominal pain and diarrhea (60%) hepatitis with elevated transaminases (20-58%), hematologic abnormalities (1-2%), rash (1-2%), alopecia (5%) and osteopathy (rare). No cardiac side effects have been prominent. Serum methotrexate levels have not been useful in predicting GI toxicity and myelosuppression. Hence, in clinical practice, toxicity monitoring is performed routinely with blood counts and liver function tests.
Serum hyperuricemia is not required or enough to diagnose gout. You must get fluid. Although if it was negative, I'd probably still treat empirically!
Like the ulcers in Syphilis and Reiter's, the ulcers in Crohn's are painless.
Renal insufficiency is not a common side effect of chronic steroid use. Other side effects include weight gain, glucose intolerance, psychiatric changes, and cataracts.
Please memorize these associations!!
Risk factors for avscular necrosis include alcoholism, excessive steroid use, post trauma, caisson disease (decompression sickness), vascular compression, HIV, hypertension, vasculitis, arterial embolism and thrombosis, damage from radiation, bisphosphonates (particularly the mandible), sickle cell anemia, and Gaucher's Disease. In some cases it is idiopathic. Rheumatoid arthritis and lupus are also common causes.
Remenber Esophageal dysmotility! Not eosinophilia.
Others include: family history, low Calcium intake, hyperthyroidism, hypogonadism, prolonged heparin use, and previous fracture.
An elevated level of alkaline phosphatase in the blood in combination with normal calcium, phosphate, and aminotransferase levels in an elderly patient are suggestive of Paget's disease.
In Osteomalacia, the serum calcium is low, urinary calcium is low, serum phosphate is low except in cases of renal osteodystrophy, and the serum alkaline phosphatase is high.
In Primary Hyperparathyroidism the calcium and alkaline phosphatase are elevated. The phosphorus is usually low.
Serum sickness typically presents 7 o 14 days after the initiation of a new medication. Treatment is to merely stop it. Aspirin is a common culprit, and the only thing you recently started. Other drugs include: penicillins, heparin, phenytoin, and sulfonamides.
Cholesterol emboli occur most frequently following a procedure involving large arteries (vascular surgery, arterial lines or heart catheterizations). The cholesterol emboli are dislodged and shower forward in the circulation. The key was gangrene with pulses in tact.
Among patients with Sjögren syndrome, the incidence of non-Hodgkin lymphoma is 4.3% (18.9 times higher than in the general population), with a median age at diagnosis of 58 years. The mean time to the development of non-Hodgkin lymphoma after the onset of Sjögren syndrome is 7.5 years.
Staphylococcus aureus and salmonella species are most common.
