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CT.MS > Osteogenesis Imperfecta > Flashcards

Osteogenesis Imperfecta Flashcards

1
Q

Ehler Danlos is a defect in

A

Collagens

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2
Q

Supraventricular aortic stenosis (autosomal dominant) is a defect in

A

elastin

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3
Q

marfan’s has a defect in…

A

Fibrillin

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4
Q

What are the cardinal features of osteogenesis imperfecta?

A
  1. low bone bass
  2. reduced bone mineral strength
  3. increased bone fragility
  4. Increased bone deformity
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5
Q

Describe type I OI’s presenting features

A 
MILD FORM
Normal stature, little deformity
blue sclera
50% hearing loss
joint hypermobility and easy bruising
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6
Q

How is type I osteogenesis imperfecta inherited?

A

autosomal dominant

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7
Q

Type IA vs Type IB?

A

IA: Normal teeth
IB: dentinogenesis

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8
Q

What are the heart problems in type I?

A

aortic root dilatation and mitral valve prolapse

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9
Q

When do you typically see fractures in Type I?

A

When kids can walk. Usually long bone fractures. Decreased fracture risk after puberty, but another increase after menopause

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10
Q

What are the features of type II OI?

A 
PERINATAL LETHAL
Platyspondyly (fusion of vertebrae)
Beaded ribs
Compressed femurs
Long bone deformity
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11
Q

What are the features of type III OI?

A

Some deformity at birth which progresses

  • hearing loss common
  • Dentinogenesis common
  • SHORT STATURE
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12
Q

How is type III inherited?

A

Autosomal dominant

Rarely autosomal recessive

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13
Q

Describe how Type IV presents

A

More fractures/deformity, and shorter than type I. Sometimes presents in adult women as osteoporosis.

  • Curving of femur/tibia/fibula
  • Osteoporosis
  • Wide range of phenotypes
  • Scoliosis
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14
Q

Where is type I collagen found?

A

Skin, tendon, bone, arteries

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15
Q

Describe the structure of type I collagen

A

2 pieces of alpha-1 collagen

1 piece of alpha-2 collagen

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16
Q

Describe the pathogenesis of osteobenesis

A

Bone is less thick with thin trabeculae

  • -Overal bone formation rate is higher
  • -But overall bone resorption is much greater.
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17
Q

What is different about OI types V, VI, and VII?

A

NOT caused by Collagen I A1 and A2

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18
Q

What are your treatment options?

A

Physical therapy/orthoses
Surgical rod placement
Experimenting with bisphosphonates, growth hormone, BMT

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19
Q

What are the clues that you are looking at OI?

A

recurrent fractures after minor trauma

  • Radiographs
  • hearing loss/short stature, dentinogenesis
  • childhood or unexplained osteoporosis
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20
Q

What are the different types of localized scleroderma?

A

morphea

linear scleroderma

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21
Q

What are the different types of systemic scleroderma?

A

limited
diffuse
sine scleroderma

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22
Q

Which parts of the skin on the body are involved in limited systemic scleroderma?

A

Everything but the bathing suit region.

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23
Q

What does the skin look like in scleroderma?

A

Swollen, red, itchy

  • ->turns shiny, tight, and thick
  • ->sclerodactyly
  • ->digital ulcers
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24
Q

Which parts of the body are affected first in scleroderma (skin manifestations)

A

fingers, hands, face

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25
Q

What percent of people have scleroderma without the skin findings/sclerosis?

A

5%

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26
Q

What is limited systemic sclerosis?

A 
Calcinosis cutis
Raynaud's
Esophageal dysmotility
Sclerodactyly
Telangiectasias
27
Q

What are the three phases/colors of raynaud’s

A
  1. Blanching
  2. Cyanosis
  3. Reactive hyperemia
    - ->Can be accompanied by structural changes in small blood vessels (vasculopathy)
    - -tapering of fingers
    - fingertip ischemia/necrosis
    - -Abnormal nail fold capillaries
28
Q

You are seeing a new onset raynaud’s pt in her forties. What is the most important PE finding?

A

dilated nailfold capillaries. Seen only in CT dzs, not in idiopathic or primary raynauds.

29
Q

Where might you see telangiectasias?

A

fingers/hands/face

-Can grow and in GI tract can cause blood loss

30
Q

What are the components of diffuse disease of scleroderma?

A
  1. early organ involvement
  2. Renal crisis
  3. Pulm fibrosis
31
Q

What are the components of limited disease in scleroderma?

A

CREST

Pulmonary hypertension

32
Q

What does the pathophysiology of scleroderma not include?

A

Vasculitis

33
Q

Which cells are activated in scleroderma?

A

fibroblasts
endothelial cells
B and T cells

34
Q

What is a vasculopathy?

A

Widespread obliterative vasculopathy and failure to replace ddamaged blood vessels. Leads to Raynaud’s, pulmonary artery hypertension and scleroderma

35
Q

What are the histological findings of vasculopathy?

A
  1. Thickening of intima
  2. Fibrosis of the adventitia
  3. No inflammation
36
Q

How do you diagnose pulmonary artery hypertension in scleroderma?

A

PFTs show DLco high
Echo with doppler
Right heart cath is gold std
–>important because PAH is often asymptomatic

37
Q

What is scleroderma renal crisis?

A

Sudden increase in HTN with renal failure and micro hematuria

38
Q

What can put a pt with scleroderma at risk of renal crisis?

A

moderate/high dose steroids

39
Q

Which autoantibodies are present in diffuse scleroderma?

A

Anti-topoisomerase 1

40
Q

Which autoantibodies are present in limited scleroderma?

A

anti-centromere antibody

41
Q

What is the pathology behind scleroderma?

A

macrophages activated by endothelial damage
T cells activated producing profibrotic cytokines
B cells activated and produce autoantibodies

42
Q

What are the downstream effects of fibroblasts?

A

Sclerodactyly
GI dysmotility
Pulmonary fibrosis

43
Q

When does ILD occur in scleroderma?

A

Occurs in the first 3 years. Greatest loss in first 2 years. Diffuse dz at higher risk

44
Q

What are the components of the GI features of scleroderma?

A
  1. esophageal hypomotility
  2. incompetent LES
  3. Gastroparesis
  4. bacterial overgrowth/malabsorption
  5. constipation
45
Q

What is gastric antral vascular ectasia?

A

Thinning of the gastric mucosa: like a watermelon This happens in scleroderma

46
Q

What are the musculoskeletal findings of scleroderma?

A
  1. Arthraligas and stiffness
  2. Synovitis (non-erosive)
  3. Tendon friction rubs (deposits on tendon sheaths)
  4. Joint contractures
  5. Myopathy (weakness) with no CK elevation. Not responsive to steroids
  6. Myositis
47
Q

What is your typical scleroderma patient look like?

A

30-50 yo females. Worse in african-americans

48
Q

What is the strongest risk factor for systemic scleroderma?

A

Positive family history. However, genetics are complex.

49
Q

How do you treat scleroderma?

A 
Skin: methotrexate/cyclophosphamide
Raynaud's: avoid triggers and long-acting calcium channel blockers, angiotensin-receptor blockers
MSK: prednisone/nsaids
GI: PPI/prokinetics
Renal: ACE inhibitors
ILD: cyclophosphamide
PAH: CCBs, oxygen, etc.
50
Q

The most common scleroderma-related cause of death in pts with scleroderma:

A

lung disease. In diffuse disease, the mortality rate is 5-8x higher

51
Q

What is sjogren’s syndrome? Know the difference btw primary vs secondary

A

Dry eyes and mouth caused by autoimmune dysfunction of exocrine glands.

Secondary sjogren’s: Caused by another autoimmune CT dz, usually rheumatoid arthritis

52
Q

Describe the pathophysiology of Sjogren’s Syndrome

A

Trigger like a virus

  • -deregulated epithelium
  • -Activated T cells (More CD4+)
  • -Activated dendritic cells
  • -Type I IFN (lymphocyte retention)
  • -BAFF : produces surviving self reactive B cells=IgA

Cytotoxic T cells and autoantibodies produced

53
Q

What are the antibodies you would see in Sjogren’s?

A

Ro and La nuclear antigens

54
Q

What are the ocular symptoms of SS?

A

dry eyes, photophobia/redness/crusty eyes

55
Q

What stain would you use to diagnose SS in the eyes?

A

Lissamine green stain

OR rose bengal stain (painful)

56
Q

Filamentary keratitis

A

Corneal epithelium sloughs off in Sjogrens

57
Q

What other non-staining diagnostic tests are there for Sjogren’s in the eye?

A

Schirmer’s test: Use filter paper to evaluate tear production
Slit lamp exam

58
Q

What are the oral symptoms of sjogren’s?

A

No saliva, tooth decay and dental caries

  • -Parotid enlargement
  • -Ulcers
59
Q

How do you diagnose dry mouth in Sjogren’s?

A

Physical exam and then biopsy shows periductal lymphocytic infiltrates

60
Q

What other parts become dry in Sjogren’s?

A

Nose
Trachea
Skin: itchy
Vagina

61
Q

What cancer are Sjogren patients at risk for?

A

Lymphoma

62
Q

What is the excess mortality from Sjogren’s?

A

If no lymphoma, no difference in mortality, unlike scleroderma

63
Q

What is the three pronged approach to sjogren’s?

A
  1. Moisture replacement
  2. Stimulation of secretions (pilocarpine/cevimeline muscarinic receptors)
  3. Immunosuppression for systemic dz
64
Q

What does candidiasis look like in a sjogren’s pt?

A

Erythema, not white plaques

CT.MS (13 decks)

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