Hematology: Autoimmune & Connective Tissue Diseases

Diagnosis of SLE

"SOAP BRAIN MD" *Serositis*- pleurisy, pericarditis on ECG or imaging *Oral ulcers*- oral/ nasopharyngeal, usually painless, palate is most specific. *Arthritis*- nonerosive, two or more peripheral joints w/ tenderness/ swelling *Photosensitivity*- skin rxn to light. *Blood Disorders*- Leukopenia, lymphopenia, thrombocytopenia, hemolytic anemia. *Renal involvement*- proteinuria or cellular casts *ANAs*- Higher titers generally more specific (>1:160); must be in absence of meds assoc. w/ drug induced lupud. *Immunologic phenomena*- dsDNA, anti-Smith (Sm) Ab's, antiphospholipid Ab's *Neurologic disorder*- Seizures or psychosis in absence of other causes. *Malar rash*- Fixed over cheeks & nasal bridge; flat or raised *Discoid rash*- Erythematous raised- rimmed lesions w/ keratotic scaling & follicular plugging, often scarring.

Dermatomyoditis (DM)

Characteristic: Idiopathic, inflammatory myopathy w/ presence of hallmark cutaneous lesions (Heliotrope rash, Gottron papules) S/sx: *Gottron papules*, heliotrope rash, "mechanic's" hands (hyperkeratosis, scaling, & fissuring of plams & fingers), proximal mm weakness, photosensitivity, pruritis, fatigue, malaise, dyspnea, weight loss. May be associated w/ interstitial lung dz, cardiac/ esophageal involvement, & underlying malignancy. Skin lesions are part of initial s/sx, muscle involvement develops later.

Ankylosing Spondylitis (AS)

Characteristic: Inflammatory arthritis w/ predominant affects in SI joints & axial spine. Spinal pain, loss of mobility/ flexibility, fusion of vertebrae Population: Men> women (2.5:1), 15-30yo Resembles RA of the spine- localized HLA-B27 present in 90-95% of pts S/sx: Tenderness @ SI joint, loss of lumbar lordosis, peripheral joints involved, kyphosis, sx of inflammatory bowel dz (abdominal pain, frequent BM, diarrhea, weight loss), iritis, fatigue, sleep disturbace, enthesitis (inflamamtion @ insertion of ligaments & tendons) Diaganosis: "Bamboo spine" on X-ray

Rheumatoid Arthritis

Characteristic: Most common inflammatory arthritis. Symmetrical arthritis of small joints in hands & feet. Immune complexes in joints leading to bilateral joint tenderness & deformity. Inflammatory & destructive process VS. osteoarthritis (overuse, wear & tear, loss of cartilage) S/sx: Bilateral joint pain (MCP, PIP, MTP)- palpation & ROM, wrists, elbows, ankles affected. Swelling & heat, Morning stiffness > 1 hr Deformity/ destruction: ulnar deviation, swan neck deformity, loss of hand strength Diagnosis: combination of PE AND must meet 4 of 7 criteria (American Rheumatism Assoc.) OR >/ = 6 points on diagnostic scale (American Collage of Rheumatology)

Chronic Cutaneous ("Discoid") Lupus

Characteristic: Typically slower progression, less severe. S/sx: primarily "dicoid" skin lesions (rash)- erythematous, maculopapular, scaly lesions, W/o other clinical manifiestations, typically not pruritic or painful Diagnosis: Skin biopsy, ANA (may be + in 20% of pts w/ isolated DLE), Complement levels may be low in pts w/ SLE but not in DLE

Polymyositis (PM)

Characteristics: Subtype of idiopathic inflammatory myopathies Population: women> men, after 20's rare in children S/sx: difficulty w/ motor tasks, mm wekness (inability/ difficulty w/ standing from seated position w/ arms crossed), mm atrophy, frequent falls, fatigue, malaise, SOB (due to complications), miled fever, abnormal breath sounds (d/t complications) Can be assoc. w/ dysphagia, fatigue, difficulty breathing, skin lesions.

Scleroderma

Characteristics: Etiology & pathogenesis are unknown. Diffuse fibrous, degenerative changes, & vascular abnormalities. Population: Females 40-50yo 2 subtypes: limited cutaneous & Diffuse cutaneous Initial S/sx: Fatigue, non-specific musculoskeletal complaints, diffuse swelling of hands & Raynaud phenomenon S/sx: Raynauds phenomenon, digital pits & ulcers, swelling in hands & feet, skin thickening, difficulty grasping objects tightly, sclerodactyly, Ht burn/ reflux/ dysphagia, bloating, fecal incontinence, telangiectasia, dyspnea, dry cough, decreased exercise tollerance Complications: Pulmonary fibrosis, polyarthritis & polyarthragia (30%) Reynaud's phenomenon (90%)

Mixed Connective tissue Disease (MCTD)

Characterized: "overlap" condition- has clinical features of and meets criterion for more than 1 rheumatic dz. Overlapping features of: SLE, scleroderm, myositis, & RA. Assoc. w/ specific HLA polymorphisms (HLA-DR4, HLA-DR1, HLA-DR2) Early S/sx: Raynaud, swollen fingers/ hands, malar rash, helicotropic rash, scaly rash on bony prominences, alopecia, telangectasia. Other S/sx: polyarthritis, general malaise, scleroderma, GERD, hematuria, lymphadenopathy Pulmonary involvement 43% of presenting pts & 66% of all pts.

Sjogren's Syndrome

Characterized: 30% are secondary to another AI disease. Systemic chronic inflammation disorder characterized by lymphocytic infiltrates in exocrine organs. Population: 40-50yo females S/sx: Dryness of all mucous membranes, Dry gritty eyes, difficulty swallowing, vaginal dryness. 20% prgress to lu, pancreas, St, thyroid, LN

Polymyositis (PM)/ Dermatomyositis (DM)(General)

DM & Pm are the most common diseases of the striated muscle, skin, & surrounding connective tissues. 80% pf the time PM & DM either appear together or are difficult to distinguish.

Diagnosis of RA (American Rheumatism Association) Criterion

Must meet 4 of the following 7: *Present X6 weeks or more*: - Morning stiffness lasting > 1 hr - Arthiritis in > 3 joints w/ soft tissue swelling/ fluid - Arthritis of hand joints w/ soft tissue swelling - Symmetric Arthritis *Must be observed by physician*: -Rhematoid nodules -Serum RH factor - Radiographic changes consistent w/ RA

Systemic Lupus Erythematosus (SLE)

Population: 90% of pts are women; usually 20-40yo; higher incidence in urban > rural populations; African Americans> Caucasians S/sx: can effect multiple systems (see image) Diagnose: based on constellation of clinical & lab findings SEE NEXT QUESTIONS (4 of 11 criteria = sensitivity of 85%, specificity= 95%)

What are the systemic AI diseases?

Rhumatoid arthritis, scleroderma, Sjogren's, Good pastures, Wegner granulomatosis, polymyalgia rheumatica, Guillian- Barre

CREST Syndrome

Subtype of scleroderma Cardinal features of syndrome: *C*alcinosis, *R*aynaud's phenomenon, *E*sophageal dysmotility, *S*clerodactyly, *T*elangiectasia Prognosis: Better than scleroderma, less organ involvement, slower progression.

Autoimmune Diseases (AI) in General

The development of autoantibodies More than 80 types of AI Systemic vs. Local AI diseases

What are the local AI diseases?

Type 1 DM, Hashimoto's thyroiditis, Celiac, IBD, MS, Autoimmune Hepatitis, Temporal Arteritis