Flashcards in Autoimmmune dx Deck (75):
Define Systemic Lupus Erythematosis
1. Chronic inflammatory autoimmune disorder that affects connective tissue
2. Characterized by autoantibodies to nuclear antigens
3. Can affect multiple organ systems
4. Commonly affects women of child bearing age
5. Signs and sx’s vary
A. Severity variable
Mild to life threatening
What are the types of SLE? Who is affected with each type?
1. Discoid Lupus - targets the skin
A> Severe inflammation, scarring and rashes on the face, scalp and ears
B> Absence of systemic disease, or may occur in assoc. w/SLE
C. 16.7% progress to SLE w/in 3 yr of Dx
2. Systemic Lupus Erythematosus - affects organs and joints
3. Sub-acute cutaneous lupus – assoc. w/skin lesions
4. Drug-induced lupus - due to drug reaction
5. Neonatal lupus - affects newborns
What are the rf fro SLE?
2. F > M
3. Certain medications
What is the pathophys of SLE?
1. Immune system produces anti-nuclear antibodies
2. Ag-Ab complexes form
3. Immune complexes become trapped in capillaries of visceral structures
What are the sxs of SLE?
1. Joint sx’s
A. Symmetrical arthritis
-Earliest manifestation of disease (peripheral joints)
2. Discoid rash
A. Raised erythematous patches w/plaques & scales
3. Malar rash
A. Characteristic “butterfly rash”
B. Present in < 50% pts
4. Oral/nasopharyngeal ulcers
5. Raynaud’s Phenomenon
A. Leg ulcerations
7. Neurologic sx’s
A. Seizures, psychosis
8. Cardiopulmonary (Serositis) sx’s
A. Pericarditis, endocarditis, murmurs, pleuritis
9. Hematologic manifestations
A. Hemolytic anemia, thrombocytopenia, leukopenia, lymphopenia
B. Petechiae, pallor
10. Renal manifestations
A. Proteinuria, casts
A. Fever, conjunctivitis, dry eyes, dry mouth
What dx studies are used in SLE?
Combination of blood & urine tests, signs & sx’s, & exam findings leads to Dx
≥ 4 (+) signs/sx’s
2. ANA: screening test
3. Anti–Double Stranded DNA Ab
4. Anti-Smith(Sm) Ab
5. Serum complement
6. CBC w/ diff
7. BUN/Cr, UA
What are the ESR results in SLE?
What are the ANA results in SLE?
1. Indicates a stimulated immune system
2. (+) in 95-100% pts
3. Not specific
What are the Anti-double stranded DNA Ab results in SLE?
1. (+) in 60% pts
2. Used as markers in disease progression
What are the Anti-Smith (Sm) Ab results in SLE?
(+) in 20% pts
What are the serum complement results in SLE?
decreased in 60% pts
Why is a CBC w/ diff used in SLE?
Evaluate for anemia, thrombocytopenia
Why is a BUN/Cr, UA used in SLE?
Evaluate renal function
Why is a CXR used in SLE?
R/O effusions or inflammation
Why is an ECHo used in SLE?
Valve disease (+) in 18% pts
How are the arthralgias and mild serositis in SLE treated?
2. Hydroxychloroquine sulfate (Plaquenil)
A. Antimalarial -> inhibits phospholipid metabolism & plt aggregation; suppresses immune system
How are the skin symptoms in SLE treated?
2. Topical corticosteroids, intradermal steroids (discoid)
4. Immunosuppressive drugs
A. Methotrexate (Trexall)
B. Azathioprine (Imuran)
How is nephritis in SLE treated?
1. Corticosteroids (pulse dose)
2. Cyclophosphamide (Cytoxan) IV monthly
3. Maintain on immunosuppressant
A. Mycophenolate mofetil (CellCept) OR
B. Azathioprine (Imuran) OR
C. Rituximab (Rituxan)
How is the Rapidly progressive renal failure or systemic vasculitis in SLE treated?
Plasmapheresis + Immunosuppressant
How are the CNS sxs of SLE treated?
Corticosteroids, anticonvulsants, antipsychotics
How is anemia and thrombocytopenia in SLE treated?
What is the px for SLE?
1. 10 year survival rate > 85%
2, Relapsing and remitting course
3. In some cases, SLE is virulent, leading to severe impairment of lungs, heart, kidneys, brain
4. 5X higher risk of MI
5. Increased risk of lymphoma, lung CA and cervical CA
6. Avascular necrosis of hips/knees
What are the inflammatory myopathies?
1. Idiopathic Dz of striated muscle
A. Muscle weakness
C. Muscle fiber breakdown
2. Affects proximal limbs, neck & pharynx
3. Can also affect skin
A. 25% of these pts will have malignancy
4. Other organ systems affected: Joints, lungs, heart, GI tract
5. Etiology unknown
6. F > M
What are the sxs of polymyositis/dermatomyositis?
1. Insidious onset
A. Weeks to months
2. Painless symmetrical proximal muscle weakness
A. Neck, shoulders, pelvic girdle
3. Dysphagia & dysphonia
4. Sensation & reflexes preserved
5. Esophageal dysmotility in dermatomyositis
6. Muscle atrophy
What are the sxs of dermatomyositis?
1. Erythematous rash on face
3. Nail changes
A. Cracking, thickening, periungual telangiectasia
4. Shawl sign
A. Erythema over neck, shoulders, upper chest & back
5. Heliotrope rash
A. Periorbital edema with purplish rash of eyelids
6. Gottron’s papules
A. Violaceous (violet) papules over dorsum of PIP & MCP joints, elbows, knees
7. Mechanic’s hand
A. Fissured, hyperpigmented, scaly skin
What is the morbidity and mortality of dermatomyositis/polymyositis?
1. Resp failure 2° to pulmonary fibrosis
2. Cardiac conduction abn w/dermatomyositis
3. Systemic autoimmune Dz
What are the dx studies for polymyositis/dermatomyositis?
1. Lytes, TSH, Ca, Mg
3. muscle bx
5. Barium Swallow
What are the CK-MM results in polymyositis/dermatomyositis?
1. Up to 50x normal
2. ↑ due to muscle inflammation
3. ↑ ALT, AST, ANA, Alk Phos, LDH
4. +/- ↑RF
5. ↑ anti-Jo-1 Ab if interstitial lung Dz
What is the confirmatory test for polymyositis/dermatomyositis?
Why are lytes checked in polymyositis/dermatomyositis?
R/O other causes of weakness (WNL)
How is polymyositis/dermatomyositis treated?
1. High dose steroids (Acute sx’s)
2. IV IgG, IV Cytoxan
A. If Prednisone not effective or sx’s return s tapering
3. Hydroxychloroquine (Plaquenil) for rash
7. Speech Therapy
define Polymyalgia Rheumatica
1. Syndrome characterized by pain & stiffness in neck, shoulders, torso & pelvic girdle
2. Accompanied by constitutional sx’s
A. Fever, fatigue, weight loss, depression: Not at onset, but may develop over time
3. ≈ 33% cases co-exist with Giant cell arteritis (temporal arteritis)
What is the demographic group asst with polymyalgia rheumatica?
F > M
Age > 50 yrs
What are the sxs of polymyalgia rheumatica?
1. Symmetric pain & stiffness > 1 mo
A. Neck, shoulders, torso, & pelvic girdle
B. Severe after rest and in AM
2. Arthralgias usually symmetric
3. Normal muscle strength
4. Fever, malaise, wt. loss
5. Increasing sx’s over weeks or months
6. Depression develops
What dx studies may be used for polymyalgia rheumatica?
1. Clinical Dx
-Elevated ESR ≥ 40 mm/hr
-20% have normal ESR
How is polymyalgia rheumatica treated?
1. Mild case-NSAIDs
2. Prednisone 10-20 mg qd up to 2 yrs
3. Sx relief w/in 48-72 hr confirms Dx, otherwise look for other cause
4. Taper Tx based on clinical exam and repeat ESR’s
5. Get baseline dexascan in females
Define scleroderma/Systemic Sclerosis
1. Connective tissue disorder
2. Thickening & fibrosis of skin & internal organs
What are the demographic groups asst. with scleroderma?
1. Unknown etiology
2. Genetic & environmental component
3. F > M
4. Presents between 20-50 yr
What are the 2 types of scleroderma?
A. Hardening of skin limited to hands and face
A. Involves hands, face, trunk, proximal extremities
What is the pathophys of scleroderma?
Increased collagen synthesis (causes sclerosis), damage to small blood vessels, activation of T lymphocytes & production of altered connective tissues
What is the mneumonic for scleroderma sxs?
1. Clacinosis: calcium deposits in the skin
2. Raynaud's: spasm of blood vessels in response to cold or stress
3. Esophageal dysfunction: acid reflux and decrease and in mobility of esophagus
4. Scleradactyly: thickening and tightening of the skin of the fingers and hands
5. Telanglectasias: dilation of capillaries causing red marks on surface of the skin
What are the sxs of Scleroderma?
1. Raynaud’s phenomenon usually initial manifestation
2. Skin (hands, then face)
A. Shiny, taut, loss of creases & hair
B. Limited movement
C. Pigment color change
D. Atrophy in late stages
A. Symmetric arthritis
A. Pulm HTN
A. Fibrosis→ cardiomyopathy→ CHF
A. Malignant HTN
B. Renal failure
C. Sjogren’s Syndrome
D. Entrapment neuropathies
E. CREST syndrome
How is scleroderma diagnosed? What dx studies are used?
1. Generally Dx of exclusion
5. AutoAb against platelet-derived growth factor (PDGF)
6. Joint x-rays prn
7. pulmonary: CXR, Chest CT, Bronchoscopy w/ Bx
8. CV: Echo, EKG, holter monitor, catheterization
9. GI studies: Barium swallow, esophageal manometry, endoscopy
What are the ANA results in scleroderma?
(+) in 90% cases
What are the RF results in scleroderma?
1. 30% (+)
2. (+) Anticentromere Ab
3. Good prognosis if (+)
Why is a CBC checked in scleroderma?
1. Mild anemia
A. Microangiopathic hemolytic anemia
-Mechanical damage to RBC’s from diseased small vessels
What is the hallmark dx finding for scleroderma?
AutoAb against platelet-derived growth factor (PDGF)
How is scleroderma treated?
1. Symptomatic and supportive
2. Organ specific (some examples):
A. Raynaud’s: CCB or periph alpha blockers
B. Esophageal reflux: PPI, H2 blockers
C. Arthralgia: NSAIDs
D. Pulm HTN: O2, lung transplant, Cytoxan if interstitial lung Dz
E. Renal: ACEI, Dialysis, Transplant
What is the px for scleroderma?
1. 5 yr survival rate 85%
2. 10 yr survival rate < 70%
3. Leading causes of mortality
A. Pulmonary HTN
B. Pulmonary fibrosis
C. Scleroderma renal crisis
Define Sjogren's syndrome
1. Autoimmune disease that destroys salivary and lacrimal glands
-Assoc with other disorders
RA, SLE, Scleroderma
C. Increased incidence of lymphoma
What are the demographics for Sjogren's syndrome?
1. F > M
2. Average age @ Dx 50 yrs
What are the sxs of sjogren's syndrome?
A. Dry mouth
B. ↓ saliva production
A. Dry eyes or keratoconjuctivitis
B. ↓ tear production
3. Enlarged parotid gland
A. Due to lymphocytic infiltration
4. Dry, gritty or burning sensation in the eyes
5. Dry mouth
6. Difficulty talking, chewing or swallowing
7. Sore or cracked tongue
8. Dry or burning throat
9. Dry or peeling lips
10. Change in taste or smell
11. Increased dental decay
12. Joint pain
13. Vaginal and skin dryness
14. Digestive problems
15. Dry nose
What dx studies and results are used in sjogren's syndrome?
A. (+) in 70% pts
A. (+) in 95% pts
A. Elevated in 70% pts
4. Anti-SSA & anti-SSB Ab
A. (+) in 65% pts
5. Schirmer’s test
A. May be elevated
A. Normochromic normocytic anemia
8. Definitive Dx
A. Salivary gland Bx
What is schirmer's test?
1. Evaluates tear secretions produced by lacrimal gland
2. Filter paper placed under lid → saturation (+ if < 8mm wetting/5 min)
What is the confirmatory test for sjogren's syndrome?
Salivary gland bx
How is Sjogren's syndrome treated?
A. Fluid replacement
B. Good oral hygiene
C. Keep mucosal surfaces moist
-Artificial tears, Cyclosporine Ophth. emulsion (Restasis)
-Cholinergic receptor stimulators
-Pilocarpine (Salagen) 5 mg po qid
-Cevimaline (Evoxac) 30 mg po tid
1. Chronic aching pain & stiffness, frequently involving the entire body
A. Prominence of pain around neck, shoulders, low back & hips
2. Can occur independently or with other rheumatologic diseases
What are the demographics for fibromyalgia?
F > M
Age group 20-50 yrs
What is the pathophys of fibromyalgia?
Abnormal sensory processing of pain in CNS
What are the sxs of fibromyalgia?
1. Non-articular musculoskeletal aches & pains
3. Sleep disturbance
4. Multiple trigger points of pain
A. Trapezius muscle
B. Medial fat pad of knee
C. Lateral epicondyle elbow
How is fibromyalgia diagnosed?
1. No routine laboratory markers
2. Dx of exclusion, commonly ordered labs:
A. ESR or CRP – R/O RA, SLE, PMR
B. FT4, TSH – R/O hypothyroidism
C. CBC – R/O anemia
What are the goals of treatment for fibromyalgia?
↓ pain, improve muscle & joint function, avoid triggers that exacerbate sx’s
What are the non-medical treatment options for fibromyalgia?
1. Patient education
2. Stress reduction
3. Sleep hygiene
4. Treat psychological problems
A. Behavioral counseling
5. Exercise program
A. Trigger pt. inj., acupuncture, Chiropractic, massage, PT
What are the medical treatment options for fibromyalgia?
2. Duloxetine (Cymbalta)
3. Milnacipran (Savella)
4. Gabapentin (Neurontin)
5. Pregabalin (Lyrica)
6. Amitriptyline (Elavil)
7. Tramadol (Ultram)
8. Muscle relaxers
9. Raloxifene (Evista)
A. qod (selective estrogen receptor modulator)
10 Propranolol (Inderal
Define Granulomatosis with Polyangiitis (GPA)/Wegener's granulomatosis
1. Systemic disorder leading to damage to lungs & kidneys that can be fatal
2. Vasculitic syndrome featuring attack by circulating Ab termed ANCAs (antineutrophil cytoplasmic antibodies) against small and medium-size blood vessels
What causes GPA/Wegener's granulomatosis?
1. Rare in Japan and African Americans
2. Unknown cause
Microbes (bacteria and viruses)?
What is the pathophys of GPA/Wegener's granulomatosis?
1. Inflammation with granuloma formation
2. Anti-neutrophil cytoplasmic antibodies (ANCAs) are responsible for the inflammation
3. Suspected if unexplained symptoms for a long period of time
What are the sxs of GPA/Wegener's granulomatosis?
A. Usually 1st sign in most people
2. Rapidly progressive glomerulonephritis → chronic kidney failure
3. EENT disorders
A. Pulmonary nodules ("coin lesions"), infiltrates, hemoptysis
A. Pain or swelling (60%), commonly misdiagnosed as RA
A. Nodules on the elbow, purpura (cutaneous vasculitis)
7. Nervous system
A. Sensory neuropathy (10%)
*Heart, GI tract, brain rarely affected
What are the EENT disorders asst with GPA/Wegener's granulomatosis?
1. Nose: pain, stuffiness, epistaxis, rhinitis, crusting, saddle-nose deformity 2° perforated septum
2. Ears:Hearing loss
3. Oral cavity:gingivitis, bone destruction with loosening of teeth, oral ulcerations
4. Eyes: pseudotumours, scleritis, conjunctivitis, uveitis, episcleritis
5. Trachea: subglottal stenosis
What are the dx studies for GPA/Wegener's granulomatosis?
1. +/- ANCAs
A. Not always diagnostic
2. If renal failure or cutaneous vasculitis, renal Bx
3. Rarely lung Bx
What are the lung bx results in GPA/Wegener's granulomatosis?
1. (+) Bx result (50% specificity)
A. Leukocytoclastic vasculitis w/necrotic changes and granulomatous inflammation (clumps of typically arranged white blood cells)
B. Necrotizing granulomas are hallmark of Dz
How is GPA/Wegener's granulomatosis diagnosed?
1. 2 or > (+) criteria = high sensitivity of Dx
A. Nasal or oral inflammation
B. Abn. CXR
-nodules, infiltrates or cavities
C. Urine sediment
-Microscopic hematuria or red cell casts
How is GPA/Wegener's granulomatosis treated?
1. Induce remission
A. Cyclophosphamide (Cytoxan) OR Rituximab (Rituxan)
B. High dose corticosteroids
2. Less toxic immunosuppressants used to prevent relapse
A. Methotrexate (Trexall)