by
J.R. Phillip MD, PhD
LULU EDITION
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PUBLISHED BY:
J.R. Phillip MD, PhD on Lulu
Rheumatology Notes
For Medical Students
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Mucopolysaccharidoses
11 diseases: Morquio’s sy, Sanfilippo sy, Hunter sy, Hurler sy, Scheie sy. etc.
Clinical: mental retardation, enlarged liver/spleen, stiff joints
Dx: ↑mucopolysaccharides in urine
Osteogenesis Imperfecta
4 types
Blue sclera, fragile bones
Dissection of ascending aorta
Ehlers-Danlos Synfrome
8 types
Skin hyperextensible, fragile, cigarette paper scars, bruising, arteries prone to rupture
Marfan’s Syndrome
Long, slender extremities, arachnodactyly, dislocated lens
Aortic valve dilatation/regurgitation, ascending aorta dissection, mitral valve prolapse
Sjogren's Syndrome
Xerostomia (dry mouth), Keratoconjuctivitis sicca (dry eyes, constant sensation of foreign body in eye), dental caries, parotid enlargement
Cause: idiopathic/autoimmune
Pathology: lymphocytic infiltration and destruction of exocrine glands
Assn: Hodgkin’s Lymphoma (B-cell lymphoma)
Dx: Lip / salivary gland biopsy (most specific), Ab’s à anti-Ro (SS-A), Anti-La (SS-B), positive Rheumatoid factor, abnormal Schirmer test
Tx: Artificial tears/saliva, sugar-free gum, good oral hygiene, steroids
Osteoporosis
Dx: Bone densitometry (T score > -2.5 à osteoporosis, -1.5 to -2.5 à osteopenia)
Tx: Calcium, Vit D (best initial drugs), Bisphosphonates (have been shown to reduce incidence of hip fractures), Calcitonin, Estrogen
Rheumatoid Arthritis
Symmetrical, polyarticular (three or more joints), inflammatory, erosive arthritis
Pannus à articular cartilage resembling granulation tissue because of chronic inflammation, subcutaneous nodules over extensor surfaces
MCP & PIP joints
Swan-neck deformity, Boutonniere deformity, radial deviation of the wrist with ulnar deviation of the digits
Subcutaneous rheumatoid nodule over elbow
Subluxation of atlanto-axial joint
Morning stiffness, lassitude, low-grade fever, anemia, weight loss
Extraarticular manifestations
Caplan Syndrome: Fibrosing alveolitis
Felty Syndrome: Splenomegaly, neutropenia, infections
Pericarditis, pleural effusion
Dx: Positive rheumatoid factor (IgM or IgG, although children with RA are often RF-(-) and titer levels may take several months), ↑ESR, ↑CRP
Tx: Physical therapy
Mild disease (negative RF, no X-ray findings) à NSAID (best initial) +
Hydroxychloroquine (causes retinopathy, patients require frequent eye exams) or Sulfasalazine
Moderate-severe disease (positive RF + bony erosion on X-ray) àNSAID + Methotraxate (best initial DMARD)
Other DMARDs à, Etanercept, Infliximab, Gold, Sulfasalazine
Steroids (low dose PO and intra-articular for bad flar-ups)
Surgery à synovectomy, joint replacement
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