Connective Tissue Disease Flashcards
1
Q
What is Scl-70. what is it a/w.
A
DNA topoisomerase 1. a/w diffuse systemic sclerosis
2
Q
what is jo-1. what is it a/w.
A
histidyl tRNA synthase. a/w dermatomyositis and polymyositis with antisynthetase syndrome
3
Q
what is dsDNA a/w
A
SLE and lupus nephritis.
4
Q
what level is considered positive for ANA?
A
greater than 1:40. about 10% of the normal population will have titers that ate 1:80
5
Q
homogenous ANA IIF on Hep-2 tumor cells a/w what anti-bodies? And what disease?
A
anti-dsDNA, anti-histone. SLE and drug-induced lupus
6
Q
peripheral ANA IIF on Hep-2 tumor cells a/w what anti-bodies? And what disease?
A
dsDNA, SLE
7
Q
speckled ANA IIF on Hep-2 tumor cells a/w what anti-bodies? And what disease?
A
Ro, La, U1RNP, Smith, RNA polymerase. Sjogrens and MCTD
8
Q
nucleolar ANA IIF on Hep-2 tumor cells a/w what anti-bodies? And what disease?
A
fibrllarin/U3RNP. Systemic sclerosis
9
Q
discrete specked ANA IIF on Hep-2 tumor cells a/w what anti-bodies? And what disease?
A
anti-centromere. CREST
10
Q
Lupus band test shows what?
A
IgM>IgG> igA and C3 is a continuous granular band at DEJ
11
Q
What other diseases can you also see a false positive lupus band test?
A
rosacea, telangiectasias, PMLE. But the band is usually weaker in intensity and more focal
12
Q
LBT in sun-protected normal skin can be positive in 50% of SLE patients. What does this correlate with?
A
Correlates with anti-dsDNA and severe extracutaneous disease including renal disease
13
Q
What percentage of DLE patients progress to SLE? What antibody predicts this?
A
10%. ssDNA
14
Q
What is a behavior risk factor for DLE?
A
smoking
15
Q
Hypertrophic Lupus vs LP distribution on the body.
A
Hypertrophic lupus likes the upper half of the body and hypertrophic LP likes the lower half
16
Q
How is Jessner’s different from tumid lupus and REM?
A
Jessner’s has CD8+ predominant infiltrate with less mucin
17
Q
ANA is positive in what % of SCLE patients? DLE patients?
A
ANA is positive in 75% of SCLE patients and 25% of DLE patients
18
Q
What is ssDNA a/w?
A
linear morphea and risk for developing SLE in DLE patients
19
Q
What is Ro/SSA a/w
A
neonatal LE/congenital heart block and SCLE
20
Q
What is Smith? What is it a/w?
A
Splicesome RNP. Highly specific for SLE
21
Q
What is rRNP? What is it a/w?
A
ribosomal p protein. Highly specific for SLE. a/w neuropsychiatric LE
22
Q
What is the ANA pattern in SLE?
A
homogenous and peripheral
23
Q
What is the ANA pattern in dermatomyositis?
A
speckled and nucleolar
24
Q
What is another name for TIF1gamma?
A
p155 p140
25
what is anti-p155/140 associated with?
clinically amyopathic DM, cancer-associated DM. calcinosis cutis
26
what is anti p140 associated with?
juvenile DM with calcinosis
27
What are the anti-tRNA synthase syndrome antibodies?
anti-JO, anti-PL7, anti-PL12, EJ/OJ
28
What is the anti-tRNA synthase syndrome clinical picture?
mechanic hands, raynauds, severe ILD, myositiis, arthritis,
29
what is mi2? What is the clinic picture it's associated with?
helicase. Good response to treatment in classic DM Skin and mild muscle disease
30
What is another name for MDA4?
CADM 140
31
What is anti-MDA5 associated with?
Amyopathic DM with rapidly progressive ILD and skin ulcers and painful palmar papules
32
what is anti-SRP associated with?
associated with flminant DM with cardiac involvement, poor prognosis
33
What is anti-RNA polymerase associated with?
systemic sclerosis with severe skin involvement and renal crisis
34
What antibodies are associated with linear morphea? With linear/generalized morphea?
ssDNA (linear), and histone (generalized)
35
What is high rheumatoid factor assciated with
mixed cryoglobulinemia and erosive RA
36
What is the most specific antibody for SjS?
alpha-fodrin
37
What is the treatment ladder for cutaneous lupus?
hdroxychloroquine or chloroquine, then add quinacrine, then add MTX, then pick (retinoid, thalidomide, MMF, dapsone)
38
What HLA is associated with SCLE?
HLA B8
39
What other diseases is SCLE associated with?
complement deficiencies (especially deficiencies in the early intrinsive pathway c1q/r/s, c2 and c4)
40
what is the most common systemic finding in SCLE?
arthritis in 70%
41
What drugs cause SCLE?
GATCH. (Griseofulvin, Ace inhibitors, terbinafine, CCB, HCTZ)
42
Women with anti-Ro have what % risk of having a child with NLE? What is they have CTD? What if they have had another child with NLE?
1% (normal mom), 15% (CTD mom), 25% (another child with NLE)
43
What % of NLE have cardiac issues? What type of cardiac issues?
70% have some cardiac abnormality. 40% have congenital third degree heart block. Heart block is almost always present by birth. Present as brady cardia and irreversible complete heard block.
44
Are all mom with a child with NLE symptomatic at the time of the child's birth?
No. 50% are asymptomatic
45
How does prenatal systemic steroids affect risk lupus on the heart and skin?
It does not decrease rate of cutaneous NLE but does decrease risk of congenital heard block
46
What is the most common cause of completement deficiency-associated SLE?
primary c2 deficiency
47
what percentage of homozygous c2 deficiency will develop SLE?
10% (low risk)
48
what complement deficiency puts you at highest risk of SLE?
c1q (90%)> c1r/s>c4>c2
49
How do deficiencies in complement lead to lupus?
Deficiencies in classic complement pathway will impair phagocytic clearance of apoptotic bodies which contain high levels of autoantigens, which will cause auto-antibody mediated inflammation
50
what does deficiency of C1,C2,C4 put you at risk for?
infections with encapsulated bacteria and SLE
51
What is C2 deficiency associated SLE associated with?
less severe systemic disease with mild or absent renal disease
52
What is C1q/r/s and C4 deficieny associated SLE associated with?
severe recalcitrant renal disease
53
What is anti-c1q autoantibodies (acquired) associated with?
lupus nephritis and hypocomplementemic urticarial vasculitis
54
what is the screening test for complement?
CH50
55
where does lupus affect on the hands?
dorsal hands sparing the knuckes
56
What is Rowell's syndrome? What antibodies is it associated with?
EM arising in ACLE, SCLE, DLE typically Ro/SSA (+)
57
What are environmental triggers for SLE?
sunlight, cigarettes, vitamin D deficiency
58
What does nail dermoscopy for SLE look like?
wandering dilated glomeruloid loops
59
What are some cutaneous signs of antiphopholipis syndrome?
Degos like lesions, arophie blache, livedo reticularis
60
What is (Livedo reticularis+ ischemic stroke)
Sneddon Syndrome
61
What is multiple eruptive dermatofibromas suggestive of?
SLE
62
How do you manage lupus in pregnancy?
Continue hydroxychloroquine, low dose steroids, and maybe anticoagulation for APLS and azathioprine (preg cat D)
63
How do you treat severe active lupus with renal disease?
prednisone and pulsed IV cyclophosphamide
64
what is belimumab?
monoclonal human antibody that inactivates BLyS (B-lymphocyte stimulator) causing apoptosis and inhibition of B cell maturation
65
what is the 10 year survival for lupus? What is the cuase of death? <5 years and >5 years
90% 10 year survival. In the first 5 years, inflammatory lesions of SLE and infection. Beyond 5 years, thromboses of arterial (MI) or venous (DVT/PE)
66
When and how does drug induced lupus typically present?
Typically presents about 1 year after drug initiation. Arthritis and myalgias. Usually lacks skin findings, lacks renal findings and lacks seizures/psychosis.
67
What do the antibodies look like for drug induced lupus?
Positive anti-histone ab. Negative dsDNA antibody.
68
Ab for minocycline-induced SLE?
Minocycline is usually ANCA positive and anti-histone negative.
69
Ab for TNFalpha induced SLE? How id TNFalpha induced SLE different from the normal drug induced SLE?
dsDNA positive. Typically has a lot of skin involvement (malar rash, photosensitivity, SCLE and DLE lesions)
70
What does the typical patient with reticular erythematous mucinosis look like?
middle-aged female with history of tanning bed use
71
What are the most common medications that cause dermatomyositis?
Hydroxyurea and statins
72
Besides proximal muscles, what other muscles do dermatomyositis affect?
Eophageal/oropharyngeal muscles (dysphagia), cardiac disease (mostly subclinic EKG abnormalities), diaphragm weakness,
73
What causes the heliotrope sign?
Inflammation of the udnerlying orbicularis oculi muscle, not the skin
74
What is the Banker variant of dermatomyositis?
juvenile DM with severe systemic vasculitiis, cutaneous ulcerations, widespread calcinosis, GI hemorrhage/ulceration
75
What is vasculitis in adult dermatomyositis a sign of?
malignancy
76
What are cancers associated with dermatomyositis? In asians?
Ovarian, colon cancer. Nasopharyngeal carcinoma (asians). Breast, lung, pancreatic, non hodgkins lymphoma
77
When are most cancers diagnosed in DM? When does the risk return back to normal? What risk doesn?t return to normal
Cancers are diagnosed within 2 years. Risk fo rmost cancers return to normal in 5 years. Colon cancer and pancreatic cancer risk remains elevated
78
What is the most common cause of death in adult Dermatomyositits? Name 3
malignancy, ischemic heart disease and pulmonary complications
79
When and what does hydroxyura-induced DM look like?
occurs about 5 years after starting hydroxyurea. Myositis never seen
80
When and what does NON-hydroxyura-induced DM look like?
usually starts 2 months after drug initiation and 80% have muscle weakness
81
Whats the schirmer test? How is it positive?
It is positive if tear film migrates <5mm in 5 minutes
82
What is vasculitis in Sjogrens Syndrome associated with?
Associated with systemic involvement (arthritis, peripheral neuropathy, raynauds, renal involvement), LYMPHOMA, increased MORTALITY
83
What is the most common skin finding in Sjogrens Syndrome? Most important skin finding?
Most common is xerosis. Most important is vasculitis.
84
What is th emost severe complication of Sjogrens syndrome?
non-hodgkins lymphoma (predominately extranodal marginal zone b cell lymphoma ) MALT (mucosal assocated lymphoid tissue) usually involving major salivary glands
85
What are sialogogue therapy (promotes saliva)
pilocarpine and cevimeline
86
What is the antibody for relapsing polychondritis?
anti-collagen type 2
87
Diagnostic criteria for relapsing polychondritis requires 3/6 of what?
1. recurrent chondritis of both auricles 2. chondritis of nasal cartilages 3. nonerosive polyarthritis 4. inflammation of ocular structures 5. chondritis of respiratory tract 6. Cochelear or vestibular damage
88
What is #1 mortality for relapsing polycondritis?
Pneumonia > systemic vasculitis >artery aneurysm dissection
89
What is MAGIC syndrome?
Behcets disease + relapsing polychondritis
90
Mixed Connective Tissue is a mix of 2 of what what diseases?
SLE, Dermatomyo, Scleroderma, Rheumatoid Arthritis
91
HLA for MCTD?
HLA DR4
92
What is the most servious complication of MCTD?
pulmonary HTN accouts for 40% of MCTD deaths
93
What is the pathogenesis of rheumatoid arthritis?
self-reactive CD4 Tcells produce Th1, IL1, IL6, TNFa calling in neutrophils and complement.
94
What causes bone erosions in RA?
RANKL binds RANK on osteoclasts causing bone erosion
95
What rheumatoid arthritis skin findings are associated with high RF titers?
Rheumatoid nodules, rheumatoid nodulosis, rheumatoid vasculitis, Superficial ulcerating necrobiosis
96
Rope sign
Interstitial granulomatous dermatitis
97
how does PNGD present?
Eroded papules overlying joints (early phase of rheumatoid nodules)
98
RA antibodies. Most sensitive. Most specific.
Most sensitive is RA. Most specific is CCP
99
Do Rheumatoid nodules respond to treatment for arthritis?
NO
100
Felty syndrome? Treatment.
RA with neutropenia, splenomagaly, refractory leg ulcers (PG), increased risk for lymphomas and leukemias. Tx is splenectomy
