Connective tissue disorders and vasculitides Flashcards
Common features of SLE
Malar rash and photosensetivity Pericarditis Libman-sacks endocarditis Increased risk of MI due to accelerated atherosclerosis Nephritis Fatigue, fever, malaise, weight loss Inflammatory, symmetric, non-erosive arthritis thrombosis seizures, psychosis
SLE serology
Correlates with disease activity:
(+) ANA
(+) anti-ds DNA
Doesn’t correlate with disease activity:
(+) Sm (smith)
Complement activation promotes inflammation
decreased C3 or C4 means increased consumption
SLE treatment
avoid sun exposure, wear sunscreen
NSAIDS
Glucocorticoids (topical or systemic)
Hydroxychloroquine
SLE mortality in the EARLY years after diagnosis
Infections (especially from opportunistic organisms)
Active SLE, chiefly due to kidney or CNS disease
SLE mortality in the LATER years after diagnosis
Accelerated atherosclerosis- linked to 5x higher incidence of MI
thromboembolic events
Management/preventative measures of SLE
Minimize other conventional risk factors for atherosclerosis
Avoid smoking
Influenza vax every year
Pneumococcal vax every 5 years
preventative cancer screening due to increased risk
What should you watch for with management of SLE with corticosteroid use
monitor for avascular necrosis of bone
monitor for osteoporosis with long term use
Type 1 antiphospholipid antibody
causes biologic false-positive tests for syphilis
Type 2 antiphospholipid antibody
Lupus anticoagulant
risk factor for venous and arterial thrombosis and miscarriage
Type 3 antiphospholipid antibody
Anti-cardiolipin antibodies
directed at a serum cofactor Beta2GPI
Treatment for APS
anticoagulation continued indefinitely
SLE/APS
cotton wool spots
Characteristics of Lupus-like syndrome/drug induced lupus
promote demethylation of DNA
No renal or neurologic symptoms
(+) ANA
(+) Anti-histone antibodies
Some meds that can cause drug induce lupus
Minocycline methyldopa quinidine methyldopa TNF inhibitors procainamide Isoniazid Hydralazine
Sulfa drugs can lead to what?
SLE flare
Neonatal lupus affects children born of mothers with what?
*Anti Ro (SSA) Abs
Anti La (SSB) Abs
can potentially happen in Sjogren pts too
What is the major complication of neonatal lupus
Permanent complete heart block
What is discoid lupus erythematosus characterized by?
Well-defined inflammatory plaques that evolve into atrophic, disfiguring scars
Hallmarks of scleroderma
Thickening and hardening of the skin
Microangiopathy and fibrosis of the skin and visceral organs
Obliteration of eccrine sweat and sebaceous glands –> dry itchy skin
What is the first symptom seen in caucasian scleroderma patients?
In african american patients?
Secondary Raynaud phenomenon in caucasians
Hyper/hypopigmentation in AAs
Localized Scleroderma
in children
Discreet areas of discolored skin induration
NO Raynaud’s
NOT systemic
Histologically indistinguishable from systemic
patches = MORPHEA
Limited cutaneous systemic sclerosis
aka CREST syndrome
Cutaneous calcinosis Raynaud's Esophageal dysmotility (GERD) Sclerodactyly Telangiectasia
When is diagnosis of limited systemic sclerosis typically made
in advanced disease
What are the vascular manifestations of limited systemic sclerosis
vascular manifestations are more pronounced than dcSSc
digital ischemia
progressive pulmonary artery HTN (presents as SOB)
What are the phases of diffuse cutaneous systemic sclerosis
Inflammatory edematous phase –> fibrotic phase
Skin induration, hyper/hypopigmentation –> loss of body hair and impaired sweating
Fibrotic joints –> stiffness
Symptoms of diffuse cutaneous systemic sclerosis
Soft tissue swelling, pruritis
fatigue, stiffness, malaise
arthralgia, muscle weakness, carpal tunnel
Raynaud (later than in limited)
Internal organ involvement - RENAL CRISIS and INTERSTITIAL LUNG DISEASE
What is the primary cause of morbidity and mortality in systemic sclerosis
Pulmonary involvement
Aspiration pneumonia
Increased incidence of bronchoalveolar carcinoma
type specific complications
Which pulmonary manifestation is associated with diffuse cutaneous systemic sclerosis
Interstitial lung disease
chronic dry cough, dyspnea, FINE VELCRO CRACKLES (rales)
Diagnose by pulmonary function test (PFT) and lung CT
Which pulmonary manifestation is associated with limited cutaneous systemic sclerosis
Pulmonary artery hypertension
Eight heart catheterization = elevated pulm artery pressure
exertional dyspnea, syncope, angina, right heart failure
Renal manifestations of SSc
Chronic kidney disease
Renal crisis- abrupt onset of malignant hypertension, hemolytic anemia, progressive renal insufficiency
high dose glucocorticoids can induce crisis
MSK and Thyroid manifestations of SSc
Carpal tunnel syndrome
hypothyroid from thyroid fibrosis
GI manifestations of SSc
primary biliary cirrhosis/cholangitis GAVE syndrome (watermelon stomach) Barrett esophagus (inc. risk of esophogeal adenoCA)
Common SSc serology
(+) ANA
Diffuse SSc serology
(+) Anti-Scl 70 (anti-DNSA topoisomerase I)
(+) Anti-RNA polymerase III
(+) ANA
Limited SSc serology
(+) anti-centromere
(+) ANA
treatment/management of SSc
no therapy to date significantly alters disease course
manage organ system involvement
high doses of glucocorticoids may be associated with development of renal crisis
Characteristics of sjogren syndrome
Sicca symptoms (hella dryness)
Keratoconjunctivitis sicca
-foreign body sensation - inadequate tear production
-check with schirmer test
What is sjogren syndrome strongly associated with?
B cell non Hodgkin lymphoma (MALT lymphoma)
Sjogren syndrome serology
polyclonal hypergammaglobulinemia
(+) anti Ro/SSA
(+) anti La/SSA
(+) ANA
(+) RF
What is essential for diagnosis of sjogren syndrome
lip biopsy
parotid gland biopsy is for pts w atypical presentation
treatment/management of sjogren syndrome
Symptomatic treatment
Avoid atropenic drugs and decongestants
no immunomodulatory drug has proved efficacious
What are the characteristic skin lesions of dermatomyositis?
Gottron’s patches/papules- raised violaceous lesions overlying dorsa of DIP, PIP, and MCP joints
Heliotrope rash- periorbital edema, purplish suffusion over eyelids
Periungual erythema
V-neck erythema- Poikiloderma (shawl sign)
treatment of dermomyositis/polymyositis
glucocorticoids
describe dermatomyositis (DM)
weakness w/o sensory symptoms
proximal muscles early –> distal muscles late in disease course
What do you look for once dermatomyositis is diagnosed
occult malignancy
What labs are associated with dermatomyositis
elevated creatine kinase and aldolase
What biopsy finding is associated with DM
perimysial and perivascular inflammation
perifascicular atrophy
Serology of DM
Anti Jo-1
anti-M2, anti-MDA5, anti-P155/P140
What distinguishes polymyositis from DM
PM does not have skin changes like DM
What biopsy finding is associated with PM
endomysial inflammation with invasion of non-necrotic muscle fibers without features suggestive of another dx
Labs and serology associated with PM
Labs- elevated CK
Serology- Anti Jo-1
Characteristics of inclusion body myositis (IBM)
more common in caucasian males
weakness in finger flexion or quads
biopsy findings with in IBM
rimmed vacuoles, endomysial inflammation, invasion of non-necrotic muscle fibers
Labs and serology findings in IBM
mild elevation or normal creatine kinase (CK)
anti-cN1A autoantibodies
Treatment of IBM
IBM is refractory to treatment so it is only supportive
What are the small vessel systemic vasculitides
IgAV aka Henoch-Schonlein purpura (HSP)
Anti GMB (goodpasture syndrome)
Granulomatosis with polyangiitis (GPA)
What are the variable size systemic vasculitides
Eosiniphilic granulomatosis with polyangiitis (EGPA)
Behcet syndrome
What are the medium vessel systemic vasculitides
Thromboangiitis obliterans (Buerger disease)
Polyarteritis Nodosa (PN)
Kawasaki DIsease (KD)
What are the large vessel systemic vasculitides
takayasu arteritis (TA)
Giant cell arteritis (GCA)(Temporal arteritis)
What is the tetrad for IgA vasculitis/Henoch-Schonlein purpura (HSP)
- Palpable purpura (NO THROMBOCYTOPENIA)
- arthritis/arthralgia
- abdominal pain
- Renal disease
How is IgAV diagnosed?
Treated?
A biopsy with IgA deposits found
treatment is supportive and glucocorticoids
How is anti GBM aka goodpasture syndrome diagnosed?
A biopsy (renal usually): deposition of anti basement membrane autoantibodies
a urinalysis
How is goodpasture syndrome treated
plasmapharesis
glucocorticoids, cyclophosphamide
What is the cause of death if anti-GBM is not treated
pulmonary hemorrhage
What are the hallmarks of granulomatosis with polyangiitis (GPA)
Granulomatous inflammation
necrotizing vasculitis
segmental glomerulonephritis (renal involvement: hematuria/RBCs/proteinuria)
What is the respiratory tract invlovement in GPA
90% nasal involvement
-saddle nose/crusting/bleeding/obstruction
erosive sinus disease
lung: CXR: cavitary lesions
Diagnosis of GPA
(+) ANCA
Biopsy- vessel changes with granulomas
What are the hallmarks of Eosiniphilic granulomatosis with polyangiitis (EGPA) aka Churg-strauss syndrome
asthma and eosiniphilia –> vasculitis with granulomas
Diagnosis of EGPA
CBC with diff: high eosiniphil count
Serology: ANCA (+)
Imaging: CXR or lung CT
Lung Biopsy: granulomas and vascular changes, eosinophils in tissue
Describe the phases of EGPA
Prodromal phase
Eosinophilia-tissue infiltr
