DIAGNOSIS & TREATMENT - PART 4 potx

Systemic Lupus Erythematosus ■ Essentials of Diagnosis • Predominantly in young women • Multisystem inflammatory autoimmune disorder with periods of exacerbation and remission • Four or more of the following 11 criteria must be present: malar (“butterfly”) rash, discoid rash, photosensitivity, oral ulcers, ar- thritis, serositis, renal disease, neurologic disease, hematologic disorders, positive antinuclear antibody (ANA), and immuno- logic abnormalities (eg, antibody to native double stranded DNA or to Sm, or false-positive serologic test for syphilis) • Also associated with fever, myositis, alopecia, myocarditis, peri- carditis, vasculitis, lymphadenopathy, conjunctivitis, anti- phospholipid antibodies with hypercoagulability and miscarriages, thrombocytopenia, glomerulonephritis (focal, membranoprolifer- ative, or membranous), sicca complex • Syndrome may be drug-induced (eg, procainamide, hydra- lazine), in which case brain and kidney usually spared ■ Differential Diagnosis • Rheumatoid arthritis • Vasculitis • Sjögren’s syndrome • Systemic sclerosis • Endocarditis • Lymphoma • Glomerulonephritis due to other cause ■ Treatment • Mild disease (ie, arthralgias with dermatologic findings) often responds to hydroxychloroquine and COX-2 inhibitors or NSAIDs • Moderate disease activity (ie, refractory to antimalarials): corticos- teroids and azathioprine, methotrexate, or mycophenolate mofetil • Corticosteroids and cyclophosphamide for lupus cerebritis and lupus nephritis • Withdraw offending agent if drug-induced lupus suspected • Avoid sun exposure ■ Pearl The classic malar rash of SLE spares the nasolabial folds. Reference Strand V: New therapies for systemic lupus erythematosus. Rheum Dis Clin North Am 2000;26:389. [PMID: 10768219] 148 Essentials of Diagnosis & Treatment 6 Systemic Sclerosis (Scleroderma) ■ Essentials of Diagnosis • Diffuse systemic sclerosis in 20% of patients with generalized fibrotic changes of the skin and internal organ systems • Raynaud’s phenomenon typical; may be associated with intesti- nal hypomotility, pulmonary fibrosis, myocarditis, pericarditis, hypertension and renal failure, acral ulceration • Limited disease (80% of patients) or CREST syndrome (calci- nosis cutis, Raynaud’s phenomenon, esophageal hypomotility, sclerodactyly, and telangiectasia): skin tightening limited to the distal extremities and feet, with lower risk of renal disease, later onset of pulmonary hypertension and biliary cirrhosis, and an overall better prognosis • ANA frequently useful in systemic sclerosis; anticentromere anti- body positive in 1% of patients with diffuse scleroderma and 50% of those with CREST syndrome; antitopoisomerase I (Scl-70) in one-third of patients with diffuse systemic sclerosis and 20% of those with CREST syndrome, and a poor prognostic factor ■ Differential Diagnosis • Eosinophilic fasciitis • Overlap syndromes with scleroderma • Graft-versus-host disease • Amyloidosis • Morphea • Raynaud’s disease • Cryoglobulinemia ■ Treatment • Angiotensin-converting enzyme blockers to treat hypertensive crisis occasionally seen in patients with systemic sclerosis • Corticosteroids not helpful; penicillamine may be • Warm clothing, smoking cessation, and extended-release calcium channel blockers for Raynaud’s phenomenon; intravenous ilo- prost may be helpful for digital ulcers • H 2 receptor antagonists or omeprazole for esophageal reflux ■ Pearl Malabsorption in systemic sclerosis is due not to intestinal fibrosis but to bacterial overgrowth from hypomotility. Reference Clements PJ: Systemic sclerosis (scleroderma) and related disorders: clinical aspects. Baillieres Best Pract Res Clin Rheumatol 2000;14:1. [PMID: 10882211] Chapter 6 Rheumatologic & Autoimmune Disorders 149 6 Overlap Syndromes (Mixed Connective Tissue Disease & Undifferentiated Connective Tissue Syndrome) ■ Essentials of Diagnosis • Clinical features of more than one disease (SLE, systemic scle- rosis, polymyositis, and rheumatoid arthritis) • Sicca complex (xerostomia, xerophthalmia, dry cough) and myosi- tis in virtually all patients • Presence of a specific antibody to ribonuclear protein • Suggested clinical criteria include three of the following: edema of the hands, synovitis, myositis, Raynaud’s phenomenon, and acrosclerosis • Associated with pulmonary fibrosis, pericarditis, myocarditis, esophageal hypomotility, glomerulonephritis • May evolve to one predominant phenotype over time ■ Differential Diagnosis • SLE • Systemic sclerosis • Polymyositis • Sjögren’s syndrome • Rheumatoid arthritis • Eosinophilic fasciitis • Graft-versus-host disease ■ Treatment • NSAIDs (eg, ibuprofen, 800 mg three times daily) and COX-2 inhibitors • Corticosteroids often first-line agent; response good at modest doses • Symptomatic relief of dryness with artificial tears, chewing gum, sialagogues, frequent sips of water • Warm clothing, smoking cessation, and extended-relief calcium channel blockers for Raynaud’s phenomenon ■ Pearl Sicca syndrome is a cause of “refractory” angina; a drop of water with nitroglycerin makes it stable angina. Reference Kasukawa R: Mixed connective tissue disease. Intern Med 1999;38:386. [PMID: 10397074] 150 Essentials of Diagnosis & Treatment 6 Polymyositis-Dermatomyositis ■ Essentials of Diagnosis • Bilateral proximal muscle weakness • Periorbital edema and a purplish (heliotrope) rash over the upper eyelids in many • Violaceous, occasionally scaly papules overlying the dorsal sur- face of the interphalangeal joints of the hands (Gottron’s papules) • Serum CK elevated; ANA only uncommonly positive save in overlap syndromes; anti-Jo-1 antibodies in the subset of patients who have associated interstitial lung disease; anti-Mi-2 is more specific for dermatomyositis but is insensitive • Muscle biopsy and characteristic electromyographic pattern are diagnostic • May be associated with rheumatoid arthritis, SLE, scleroderma, mixed connective tissue disease; increased incidence of malig- nancy, especially in older patients ■ Differential Diagnosis • Endocrine myopathies (eg, hyperthyroidism) • Polymyalgia rheumatica • Myasthenia gravis; Eaton-Lambert syndrome • Muscular dystrophy • Rhabdomyolysis • Parasitic myositis • Drug-induced myopathies (eg, corticosteroids, alcohol, col- chicine, statins, zidovudine, hydroxychloroquine, one batch of L-tryptophan) • Adult glycogen storage disease • Mitochondrial myopathy ■ Treatment • Corticosteroids • Methotrexate or azathioprine spares steroids • Intravenous immune globulin for some cases of dermatomyositis • Search for malignancy unwarranted unless historical or exami- nation findings indicate it ■ Pearl Biopsy at the site of a previous EMG will show inflammation; pick the same muscle on the other side. Reference Callen JP: Dermatomyositis. Lancet 2000;355:53. [PMID: 10615903] Chapter 6 Rheumatologic & Autoimmune Disorders 151 6 Sjögren’s Syndrome ■ Essentials of Diagnosis • Destruction of exocrine glands, leading to mucosal and conjunc- tival dryness • Dry mouth (xerostomia) and dry eyes (keratoconjunctivitis sicca), decreased tear production, parotid enlargement, severe dental caries, loss of taste and smell • Occasionally associated with glomerulonephritis, renal tubular acidosis, biliary cirrhosis, pancreatitis, neuropsychiatric dysfunc- tion, polyneuropathy, interstitial pneumonitis, thyroiditis, cardiac conduction defects • Over 50% have cytoplasmic antibodies, anti-Ro (SS-A), and anti- La (SS-B) • Decreased lacrimation measured by Schirmer’s filter paper test; biopsy of minor salivary glands of lower lip confirms diagnosis • May also be observed in patients with rheumatoid arthritis, SLE, systemic sclerosis, polymyositis, polyarteritis, fibrosis; increased incidence of lymphoma and Waldenström’s macroglobulinemia, especially in isolated sicca syndrome ■ Differential Diagnosis • Sicca complex associated with other autoimmune diseases such as sarcoidosis, rheumatoid arthritis, SLE, and systemic sclerosis as noted • Anticholinergic medications • Chronic irritation from smoking ■ Treatment • Symptomatic relief of dryness with artificial tears, chewing gum, sialagogues • Cholinergic drugs such as pilocarpine • Meticulous care of teeth and avoidance of sugar-containing candies • Corticosteroids or azathioprine; cyclophosphamide for peripheral neuropathy, interstitial pneumonitis, glomerulonephritis, and vas- culitis ■ Pearl Consider parotid tumors before making the diagnosis of Sjögren’s syn- drome. Reference Fox RI et al: Current issues in the diagnosis and treatment of Sjögren’s syn- drome. Curr Opin Rheumatol 1999;11:364. [PMID: 10503656] 152 Essentials of Diagnosis & Treatment 6 Polyarteritis Nodosa ■ Essentials of Diagnosis • Fever, hypertension, abdominal pain, arthralgias, myalgias • Cotton-wool spots and microaneurysms in fundus; pericarditis, myocarditis, palpable purpura, mononeuritis multiplex, livedo reticularis • Acceleration of sedimentation rate in most; serologic evidence of hepatitis B or hepatitis C in 30–50% • ANCA positive in most • Diagnosis confirmed by biopsy or visceral angiography • Renal or pulmonary involvement in variant microscopic poly- arteritis ■ Differential Diagnosis • Wegener’s granulomatosis • Churg-Strauss vasculitis • Hypersensitivity vasculitis • Subacute endocarditis • Essential mixed cryoglobulinemia • Cholesterol atheroembolic disease ■ Treatment • Corticosteroids with cyclophosphamide for systemic vasculitis; azathioprine is used as a maintenance immunosuppressant ■ Pearl Treat polyarteritis nodosa with immunosuppressives at your own risk if endocarditis has not been definitively excluded. Reference Savage C et al: ABC of arterial and vascular disease: vasculitis. BMJ 2000; 320:1325. [PMID: 10807632] Chapter 6 Rheumatologic & Autoimmune Disorders 153 6 Polymyalgia Rheumatica & Giant Cell Arteritis ■ Essentials of Diagnosis • Patients usually over age 50 • Polymyalgia rheumatica characterized by pain and stiffness, not weakness, of the shoulder and pelvic girdle lasting 1 month or more without evidence of infection or malignancy • Associated with fever, little if any joint swelling, sedimentation rate > 40mm/h, and rapid response to prednisone 15 mg/d • Giant cell (temporal) arteritis frequently coexists with polymyal- gia rheumatica; headache, transient or permanent blindness, jaw claudication, or temporal artery tenderness; lingual Raynaud’s phenomenon, scalp necrosis • Diagnosis confirmation by 5 cm temporal artery biopsy remains reliable for 1–2 weeks after starting steroids ■ Differential Diagnosis • Multiple myeloma • Chronic infection, eg, endocarditis, visceral abscess • Neoplasm • Rheumatoid arthritis • Depression • Myxedema • Carotid plaque with embolic amaurosis fugax • Carotid Takayasu’s arteritis ■ Treatment • Prednisone 10–20 mg/d for polymyalgia rheumatica • Prednisone 60 mg/d immediately on suspicion of temporal arteritis; treat for at least 4 months depending on response of symptoms—not sedimentation rate • Methotrexate or azathioprine spares steroids in some patients with side effects on high doses ■ Pearl Instruct patients with polymyalgia rheumatica to keep 60 mg of pred- nisone with them at all times and to take it and come in if there are any visual symptoms. Reference Epperly TD et al: Polymyalgia rheumatica and temporal arthritis. Am Fam Physician 2000;62:789. [PMID: 10969858] 154 Essentials of Diagnosis & Treatment 6 Churg-Strauss Vasculitis (Allergic Granulomatosis & Angiitis) ■ Essentials of Diagnosis • Granulomatous vasculitis of small- and medium-sized arteries • Four of the following have a sensitivity of 85% and specificity of 100% for diagnosis: asthma; allergic rhinitis; transient pulmonary infiltrates; palpable purpura or extravascular eosinophils; mono- neuritis multiplex; and eosinophilia ■ Differential Diagnosis • Wegener’s granulomatosis • Eosinophilic pneumonia • Polyarteritis nodosa (often overlaps) • Hypersensitivity vasculitis ■ Treatment • Corticosteroids • Cyclophosphamide in addition probably has better outcome ■ Pearl Leukotriene inhibitors such as montelukast, given for asthma, have been implicated as causing some cases of Churg-Strauss syndrome. Reference Eustace JA et al: Disease of the month. The Churg Strauss Syndrome. J Am Soc Nephrol 1999;10:2048. [PMID: 10477159] Chapter 6 Rheumatologic & Autoimmune Disorders 155 6 Hypersensitivity Vasculitis ■ Essentials of Diagnosis • Leukocytoclastic vasculitis of small blood vessels • Palpable purpura of lower extremities the predominant feature • Secondary to numerous drugs, neoplasms, connective tissue dis- orders, congenital complement deficiency, serum sickness, viral or bacterial infection • On occasion associated with fever, arthralgias, abdominal pain with or without gastrointestinal bleeding, pulmonary infiltrates, kidney involvement with hematuria ■ Differential Diagnosis • Polyarteritis nodosa • Henoch-Schönlein purpura • Essential mixed cryoglobulinemia • Meningococcemia • Gonococcemia ■ Treatment • Treat underlying disease if present • Discontinue offending drug • Corticosteroids in severe cases ■ Pearl The palpable purpura of hypersensitivity vasculitis is dependent and thus may be prominent on the backs of bedfast patients. Reference Savage CO et al: ABC of arterial and vascular disease: vasculitis. BMJ 2000; 320:1325. [PMID: 10807632] 156 Essentials of Diagnosis & Treatment 6 Wegener’s Granulomatosis ■ Essentials of Diagnosis • Vasculitis associated with glomerulonephritis and necrotizing granulomas of upper and lower respiratory tracts • Slight male predominance with peak incidence in fourth and fifth decades • Ninety percent present with upper or lower respiratory tract symp- toms, including perforation of nasal septum, chronic sinusitis, oti- tis media, mastoiditis, cough, dyspnea, hemoptysis • Proptosis, scleritis, arthritis, purpura, or neuropathy (mononeuritis multiplex) may also be present • cANCA in 90%; sinus, lung, or renal biopsy makes the diagno- sis, though the latter is seldom specific, showing focal glomeru- lonephritis; eosinophilia not a feature • Chest film may reveal large nodular densities; urinalysis may show hematuria, red cell casts; CT scans of sinuses often reveal bony erosion • Increased risk of bladder cancer and lymphoma ■ Differential Diagnosis • Polyarteritis nodosa • Churg-Strauss vasculitis • Goodpasture’s syndrome • Takayasu’s arteritis • Microscopic polyarteritis • Lymphomatoid granulomatosis • Lymphoproliferative disorders (especially angiocentric T cell lymphoma) ■ Treatment • Corticosteroids • Primarily oral cyclophosphamide or methotrexate in addition • Trimethoprim-sulfamethoxazole effective in mild disease; given to all patients not allergic to sulfonamides ■ Pearl In 10% of renal biopsies, pathognomonic granulomatous vasculitis is seen in renal arterioles. Reference Esper GJ et al: Update on the treatment of Wegener’s granulomatosis. Bull the Rheumat Dis 1999;48:1. [PMID: 10721552] Chapter 6 Rheumatologic & Autoimmune Disorders 157 6 [...]... Japanese woman is Behçet’s syndrome unless proved otherwise Reference Sakane T et al: Behçet’s disease N Engl J Med 1999; 341 :12 84 [PMID: 10528 040 ] 162 Essentials of Diagnosis & Treatment Ankylosing Spondylitis I Essentials of Diagnosis • Gradual onset of backache in adults under age 40 with progressive limitation of back motion and chest expansion • Diminished anterior flexion of lumbar spine, loss of... patients with symmetric polyarthritis • Treatment of psoriasis helpful in many but not in sacroiliitis I Pearl In an arthritis of uncertain cause, examination of the intergluteal folds can give the diagnosis Reference Gladman DD: Psoriatic arthritis Rheum Dis Clin North Am 1998; 24: 829 [PMID: 9891713] 1 64 Essentials of Diagnosis & Treatment Reactive Arthritis I Essentials of Diagnosis • Predominantly found... specimen, the diagnosis is myeloma with a cryoprecipitable M-spike Reference Lamprecht P et al: Cryoglobulinemic vasculitis Arthritis Rheum 1999 ;42 :2507 [PMID: 10615995] Chapter 6 Rheumatologic & Autoimmune Disorders 159 Takayasu’s Arteritis (“Pulseless Disease”) I Essentials of Diagnosis • Large-vessel vasculitis involving the aortic arch and its major branches • A disease of Asian women under 40 • Associated... (DISH) Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome Treatment • Physical therapy to maintain posture and mobility • NSAIDs (eg, indomethacin 50 mg three times daily) often marginally effective • Sulfasalazine reported effective in some patients • Intra-articular corticosteroids for synovitis; ophthalmic corticosteroids for uveitis • Surgery for severely affected joints; anti-TNF agents... lesions • Pathergy test—a papule or a pustule forms 24 48 hours after simple trauma such as a needle prick • Diagnosis is clinical • HLA-B5 histocompatibility antigen often present I Differential Diagnosis • • • • • • • I HLA-B27 spondyloarthropathies Oral aphthous ulcers Herpes simplex infection Erythema multiforme SLE HIV infection Infective endocarditis Treatment • Local mydriatics in all patients with... compare present appearance of the patient with photograph on the driver’s license and you make the diagnosis Reference Melmed S et al: Current treatment guidelines for acromegaly J Clin Endocrinol Metab 1998;83:2 646 [PMID: 9709926] 176 Essentials of Diagnosis & Treatment Hyperprolactinemia I Essentials of Diagnosis • Women: menstrual disturbance (oligomenorrhea, amenorrhea), galactorrhea, infertility... Essentials of Diagnosis & Treatment Simple & Nodular Goiter I Essentials of Diagnosis • Single or multiple thyroid nodules found on thyroid palpation • Large multinodular goiters may be associated with compressive symptoms (dysphagia, stridor) • Measurement of free thyroxine (FT4) and TSH; radioiodine uptake scan helpful in selected cases for distinguishing cold from hot nodules I Differential Diagnosis. .. complicated pregnancy with postpartum bleeding; it could be Sheehan’s syndrome Reference Lissett CA et al: Management of pituitary tumours: strategy for investigation and follow-up Horm Res 2000;53(Suppl 3):65 [PMID: 10971108] 1 74 Copyright 2002 The McGraw-Hill Companies, Inc Click Here for Terms of Use Chapter 7 Endocrine Disorders 175 Acromegaly & Gigantism I Essentials of Diagnosis • Amenorrhea, headaches,... epidemiology Reference Numano F et al: Takayasu arteritis—beyond pulselessness Intern Med 1999; 38:226 [PMID: 10337931] 160 Essentials of Diagnosis & Treatment Thromboangiitis Obliterans (Buerger’s Disease) I Essentials of Diagnosis • Inflammatory disease involving small- and medium-sized arteries and veins of the distal upper and lower extremities • Occurs primarily in young Jewish men who are heavy cigarette... Pearl The combination of nephrotic syndrome and hepatosplenomegaly in a middle-aged patient is amyloidosis; only rarely can other single processes do it Reference Gertz MA et al: Amyloidosis Hematol Oncol Clin North Am 1999;13:1211 PMID: 10626 146 ] 172 Essentials of Diagnosis & Treatment Reflex Sympathetic Dystrophy I Essentials of Diagnosis • Usually follows direct trauma to the hand or foot, knee injury, . 10969858] 1 54 Essentials of Diagnosis & Treatment 6 Churg-Strauss Vasculitis (Allergic Granulomatosis & Angiitis) ■ Essentials of Diagnosis • Granulomatous vasculitis of small- and medium-sized. Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syn- drome ■ Treatment • Physical therapy to maintain posture and mobility • NSAIDs (eg, indomethacin 50 mg three times daily) often mar- ginally. syndrome). Am Fam Physician 1999;60 :49 9. [PMID: 1 046 5225] 1 64 Essentials of Diagnosis & Treatment 6 Arthritis Associated with Inflammatory Bowel Disease ■ Essentials of Diagnosis • Peripheral arthritis: