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MSK2 F > Connective Tissue Dx > Flashcards

Connective Tissue Dx Flashcards

1
Q

What’s an ANA?

A

Anti-nuclear antibody test, loosely associated w/ underlying autoimmune dxs

Looks for antibodies that target self-antigens in the nucleus of cells

Labs use different methods to test for ANAs

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2
Q

What does the ANA test homogenous staining pattern imply?

A

Ab directed against chromatin, histones, proteins, and DNA

Drug-induced SLE
Sjogren’s syndrome
SLE

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3
Q

What does the ANA test speckled staining pattern imply?

A

Directed against Sm antigens, not as uniform as centromere

Mixed Connective tissue dx
Diffuse Systemic Sclerosis (Scleroderma)
Sjogren’s syndrome
SLE

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4
Q

What does an ANA test centromere staining pattern imply?

A

Resting cells = dispersed evenly
Mitotic cells = localized to chromosomes

Limited Systemic Sclerosis (CREST)

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5
Q

What does an ANA test nucleolar staining pattern imply?

A

Staining of nucleolus, Ab against RNA

Diffuse Systemic Sclerosis (Scleroderma)
SLE

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6
Q

What criteria is used to support an SLE diagnosis?

A 
Malar rash
Oral ulcers
Photosensitivity
Arthritis
Hematologic disorders
Positive ANA
Kidney dx (nephritis)
Neurologic dx (seizures, psychosis)

Cardiac valve dx
Reydaud’s phenomenon
Atherosclerosis
Pericarditis/pleurisy

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7
Q

What is SLE? Type of hypersensitivity? Progression? Sex? Race? Environmental factors? Pt most likely to die from?

A

Autoimmune Inflammatory disorder, Ab to nuclear antigens

  • T3 hypersensitivity
  • remissions and relapses
  • F > M
  • AA & Hispanics > white, poor socioeconomic status
  • UV light, EBV
  • atherosclerosis or kidney dx
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8
Q

What’s the serology findings for SLE?

A

ANA pos

  • anti-dsDNA = correlates w/ dx activity
  • Sm (Smith)
Dec complement (C3 & C4) d/t consumption
- normalizes in remission
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9
Q

What dx process is often associated w/ SLE? Explain + tx.

A

Antiphospholipid Antibody Syndrome (APS)

  • 3 types of antibodies (one = false positive for syphilis, two = lupus anticoagulant, three = anti-cardiolipin > Beta2GP1)
  • tx: anticoagulation (Warfarin, Heparin/LMWH in pregnancy)
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10
Q

Cotton wool spots on the retina may suggest what?

A

SLE/APS retiopathy

- many things cause cotton wool spots though

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11
Q

What are the serology findings in Lupus-like syndrome/Drug-induced?

A

ANA pos

- anti-histone antibodies (homogenous stain pattern)

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12
Q

What drug class can cause an SLE flare?

A

Sulfa antibiotics

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13
Q

What antibodies convey neonatal lupus? What’s a symptom in the neonate?

A 
Anti Ro (SSA) 
Anti La (SSB)

Permanent/complete heart block

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14
Q

What’s the tx for SLE?

A 
Avoid sun exposure
- wear sunscreen
NSAIDs
Corticosteroids
Hydroxychloroquine
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15
Q

What’s a Type III Hypersensitivity response? What’s it associated w/?

A

Immune complex-mediated > complement activation > recruitment of leukocytes > release of cytokines and enzymes

SLE

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16
Q

What is Discoid Lupus?

A

Chronic skin condition w/ red, inflamed, crusty/scaling patchy lesions

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17
Q

What is Scleroderma (systemic sclerosis) generally? What are the three types?

A

Progressive dx involving the thickening/hardening of the skin w/ fibrosis of skin and organs
- obliterates eccrine glands > dry itchy skin

Diffuse (dcSSc), Limited (lcSSc), Localized

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18
Q

Differentiate between the different variants of Scleroderma:

A

Diffuse: systemic/diffuse, extremities + trunk involved, early & progressive organ involvement, worst prognosis, Raynaud (later), Scleroderma Renal Crisis

Limited: face/neck and distal extremities, pulmonary HTN and Raynaud’s (early), CREST syndrome, indolent course w/ good prognosis

Localized: benign, affects children, no Raynaud’s or systemic sxs, presents as areas of discolored skin (patches = morphea, coalesced patches = generalized morphea)

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19
Q

What does CREST in CREST syndrome stand for?

A

Calcinosis cutis (calcium deposits in the skin)
Raynaud’s (secondary, fingers don’t receive proper blood supply in cold, under stress)
Esophageal dysmotility
Sclerodactyly (thickening and tightness of skin on fingers/toes)
Telangiectasia (blood vessel patterns seen on skin)

20
Q

What’s the serology for Scleroderma?

A

ANA pos

Diffuse: anti-Scl 70/topoisomerase I, anti-RNA polymerase III

Limited: anti-centromere

21
Q

What GI manifestations can arise in Scleroderma?

A

Malnutrition: fat, protein, B12, Vit D def
GERD > Barrett esophagus > inc adenoCA risk
Gastric antral vascular ectasia (GAVE, watermelon stomach)

22
Q

What’s the primary cause of morbidity and mortality in Scleroderma?

A

Pulmonary path

  • interstitial lung dx – diffuse
  • pulmonary artery hypertension (PAH) – limited
23
Q

Regarding Scleroderma, which variant is CKD most likely to occur in? How might it present?

A

Diffuse

Abrupt onset of HTN, hemolytic anemia, renal insufficiency

24
Q

Sjogren syndrome is what? What CA does it have a strong association to?

A

Immune-mediated destruction of the exocrine glands > sicca sxs

  • dry eyes/inadequate tear production
  • xerostomia > dental caries (cavities)
  • vaginal dryness
  • parotid gland enlargement

B-cell non-Hodgkin lymphoma

25
Q

Sjogren Syndrome can be a secondary manifestation in certain dxs, of which are?

A 
RA
SLE
Scleroderma
Polymyositis
Autoimmune thyroiditis
Polyarteritis
Interstitial pulmonary fibrosis
Primary biliary cirrhosis/cholangitis
26
Q

What’s the serology or Sjogren’s Syndrome?

A

ANA and RF pos
Hypergammaglobulinemia
Anti SSA/Ro pos & Anti SSB/La pos (come together always)

27
Q

What is the state of ESR and CRP in inflammatory myopathies?

A

Normal

28
Q

A pt (7-15, 30-60) presents with weakness to mm. They have periorbital edema with a purplish suffusion over the eyelids and a positive Shawl sign (erythema over neck/shoulders, upper chest and back). No sensory sxs noted. What does this pt have? What’s the pt at risk for? What are common associated findings?

A

Dermatomyositis

Occult malignancy (ovarian mc, check CA-125)
- get a transvaginal ultrasound

Perifascicular atrophy
Elevated CK and Aldolase
Anti-Jo1, Anti-Mi2, Anti-MDA5, anti-P155/P140

29
Q

What are Gottron’s patches/papules and what are they associated w/?

A

Raised lesions overlying the dorsa of DIP, PIP, and MCP joints

Inflammatory myopathies

30
Q

Pt (30-50+) presents w/ c/o m weakness. No skin changes noted on PE. Labs show an increased CK. What would labs and a biopsy show? What does this pt have?

A

Anti-Jo1, endomysial inflammation

Polymyositis

31
Q

How do you tx DM/PM?

A

Corticosteroids

32
Q

A > 40-50 yo caucasian male presents w/ finger flexion and/or quad weakness. CK is slightly elevated.. close to normal. What’s the dg? What’s expected on the biopsy? What’s the tx?

A

Inclusion body myositis (IBM)

Rimmed vacuoles w/ anti-cN1A autoantibodies

Supportive only (no tx available)

33
Q

A < 40 yo Asian female presents with odd feeling in chest. Upon PE, her pulses are not found in the UE, but are in the LE. Fundoscopic exam shows “copper wiring” retinal infarctions. What dx is this and how is a diagnosis made? What’s occurring? What are associated sxs? What’s the tx?

A

Takayasu Arteritis (“pulseless dx”), dg made by MRI or CT

Long smooth tapered stenosis of the aorta and its branches

Pulmonary involvement, retinopathy, renal a stenosis, aortic dilations, aortic regurg, aneurysm, aortic rupture

Glucocorticoids

34
Q

What are some attributes of Henoch-Schonlein Purpura (HSP)?

A

Palpable purpura (but no thrombocytopenia)
Common in kids
IgA deposits
Abd pain, arthritis, glomerulonephritis

35
Q

A pt presents w/ Behcet Syndrome. Where is this often seen regionally? What’s the genetic component? What’s the triad of findings for this pt?

A 
Silk route (Turkey, Asia, Mid East)
HLA-B51

Recurrent mouth ulcers, genital ulcers, uveitis (eye inflammation)

36
Q

A male patient w/ HBV comes to your clinic c/o fever, malaise, wt loss, and peripheral neuropathy w/ foot drop. He’s noticed nodules on his skin. Also some abd pain, and his BP is high on PE (which is says is abnormal). What does he have? What organ system has been spared? What’s helpful in diagnostic work-up? What’s the tx?

A

Polyarteritis Nodosa

Lungs

Infiltration and destruction of vasculature by inflammatory cells > necrosis

  • angiogram
  • ANCA negative

Corticosteroids

37
Q

A young Asian child < 5 yo presents w/ redness and swelling of their feet and hands. What other sxs would you see in this pt? What do they have? What’s the tx? What might cause death here?

A

Swollen lymph nodes
Strawberry tongue w/ dry cracked lips
Fever
Medium vessel involvement

Kawasaki dx

IVIG and high-dose ASA (yes, risking Reys syndrome)

Aneurysms or MI (may occur years later)

38
Q

A > 40 yo male presents w/ granulomatous inflammation of the respiratory tract (inside the nares). On x-ray, alveolar hemorrhages and cavitary lesions are seen w/ infiltrate. Kidney labs are abnormal w/ hematuria and proteinuria. He’s also having trouble hearing. He has a SADLE NOSE. What dx is this? Is this pt ANCA pos or neg? What’s happening to the small vessels?

A

Granulomatosis w/ Polyangitis (GPA)

ANCA pos
- C-ANCA/PR3-ANCA

Necrotizing vasculitis

39
Q

What ANCA is associated w/ Eosinophilic Granulomatosis w/ Polyangitis (EGPA)? Associated sxs?What’s another name for this dx?

A

MPO-ANCA

Granulomas w/ eosinphillia
- asthma + eosinophillia -> vasculitis

Churg-Strauss Syndrome

40
Q

A young male < 35 yo presents c/o cool hands and feet. He smokes often. Diagnosis? What’s the diagnostic feature and tx?

A

Thromboangiitis Obliterans (Buerger Dx)

Angiography shows corkscrew appearance of vessels

STOP smoking (only tx)

41
Q

What’s the difference between primary and secondary Raynaud Phenomenon? What’s the progression or what the fingers look like?

A

Primary = benign, symmetric, response to cold or emotion

Secondary = more severe ischemia, unilateral, drug-induced or other

Pallor (vasoconstriction) > cyanosis (ischemia) > erythema (reperfusion)

42
Q

If Giant Cell Arteritis (GCA) isn’t treated, what can occur? What’s tx?

A

Blindness

Corticosteroids immediately!

43
Q

What vessels does GCA involve? What are the sxs? What’s a lab value commonly seen?

A

Large

  • cranial (temporal/facial/ophthalmic)
  • aortic arch

Headache, jaw claudication (cramping d/t vasculature blockage), visual abnormalities)

ESR inc (> 50 mm/h)

44
Q

What is GCA associated w/ usually? Describe it.

A

Polymyalgia Rheumatica (PMR)

  • proximal symmetrical stiffness/soreness/pain in shoulder, neck and pelvic girdles
  • weakness is secondary to pain (pt can’t do much d/t pain, mm fine)
  • no inflammation on m bx
  • Carpal tunnel syndrome associated!!!!!!
  • m enzymes and EMG normal
  • ESR and CRP elevated though!
45
Q

What’s the genetic component of GCA?

A

HLA-DR4

46
Q

Who’s most at risk for GCA?

A

W > 50 yo that have northern european ancestry

47
Q

45 yo WF presents w/ CP. History of positive anti-Sm and Anti-DS DNA. On recent testing she had positive phospholipid antibodies. 2D echo reveals valve thickening and verrucous valvular lesions. What is this condition called?

A

Libman Sacks endocarditis

MSK2 F (12 decks)

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