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First Aid 2014 > MSK: 419 - 421 > Flashcards

MSK: 419 - 421 Flashcards

1
Q

What process is inhibited in achondroplasia?

A

Impaired endochondral ossification because of impaired cartilage proliferation in the growth plate

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2
Q

What is the inheritance of hereditary achondroplasia?

A

Autosomal dominant

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3
Q

What is the mutation in achondroplasia?

A

Activating mutation of fibroblast growth factor receptor (FGFR3)

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4
Q

Is membranous ossification affected in achondroplasia?

A

No

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5
Q

What does a patient with achondroplasia look like?

A

Head that appears relatively large (actually normal sized because membranous ossification is unaffected) with short limbs (from impaired endonchondral ossification)

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6
Q

Are most achondroplasia mutations hereditary or sporadic?

A

Sporadic

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7
Q

What other condition can achondroplasia cause?

A

Dwarfism

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8
Q

How does achondroplasia affect life span, fertility, and mental function?

A

They are all normal

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9
Q

How is osteoporosis diagnosed?

A

Bone mineral density test (DEXA) with a T score of < -2.5

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10
Q

Long term use of what medication can lead to osteoporosis?

A

Steroids

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11
Q

What happens in osteoporosis?

A

Trabecular (spongy) bone loses mass and interconnections despite normal bone mineralization

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12
Q

What is a major complication of osteoporosis?

A

Vertebral crush fractures - acute back pain, loss of heigh, kyphosis

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13
Q

What are the 2 types of osteoporosis?

A

Type 1 - postmenopausal

Type 2 - senile

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14
Q

Senile osteoporosis typically affects men and women greater than what age?

A

70

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15
Q

Why are postmenopausal women at increased risk of osteoporosis?

A

Decreased estrogen levels

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16
Q

What 2 fractures are common in postmenopausal women with osteoporosis?

A
  1. Femoral neck

2. Distal radius (Colles)

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17
Q

Describe different prophylaxis treatments for senile osteoporosis.

A
  1. Regular weight-bearing exercise

2. Adequate calcium and vitamin D intake throughout adulthood

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18
Q

How can we treat senile osteoporosis?

A

Bisphosphonates, PTH, SERMs, rarely calcitonin, denosumab (monoclonal antibody against RANKL)

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19
Q

What is another name for osteopetrosis?

A

Marble bone disease

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20
Q

Which cells are defective in osteopetrosis?

A

Osteoclasts

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21
Q

Describe the bones in osteopetrosis.

A

Thickened and dense but prone to fracture

22
Q

Why do we see pancytopenia and extramedullary hematopoiesis in osteopetrosis?

A

Bone fills the marrow space

23
Q

What is the cure for osteopetrosis?

A

Bone marrow transplant - osteoclasts are derived from monocytes so allows the patient to make normal monocytes/osteoclasts

24
Q

What is the classic mutation in osteopetrosis and how does that lead to the disease?

A

Mutation in carbonic anhydrase II impairs the formation of an acidic environment which is necessary for bone resorption so the osteoclast is inhibited in its activity

25
Q

Why does osteopetrosis sometimes present with vision and hearing impairment?

A

Cranial nerve impingement and palsies as a result of narrowed foramina

26
Q

How does the mutation in osteopetrosis affect the kidney?

A

Can lead to renal tubular acidosis (impairment of carbonic anhydrase II)

27
Q

What is the major deficiency in osteomalacia/rickets?

A

Vitamin D

28
Q

Does osteomalacia/rickets occur in kids/adults?

A

Rickets - children

Osteomalacia - adults

29
Q

Describe the pathogenesis of osteomalacia/rickets.

A

Vitamin D deficiency –> defective mineralization/calcification of osteoid –> soft bones that bow out (rickets) or weak bones that fracture (osteomalacia)

30
Q

Describe the lab values of vitamin D, calcium, PTH, serum phosphate, and ALP in osteomalacia/rickets.

A

Decreased: vitamin D, calcium, phosphate
Increased: PTH, ALP

31
Q

How does ALP affect osteoblastic/osteoclastic activity?

A

Promotes osteoblastic activity by forming an alkaline environment

32
Q

What bone disease has an increase in both osteoblastic and osteoclastic activity?

A

Paget disease of bone

33
Q

What is another name for Paget disease of bone?

A

Osteitis deformans

34
Q

Describe the serum levels of Ca, phosphorus, and PTH in Paget disease of bone.

A

Normal

35
Q

What are the 4 stages in Paget disease?

A
  1. Lytic - osteoclasts
  2. Mixed - osteoclasts + osteoblasts
  3. Sclerotic - osteoblasts
  4. Quiescent - minimal osteoclast/osteoblast activity
36
Q

What are 2 complications of Paget disease of bone?

A
  1. High-output heart failure

2. Progression to osteogenic sarcoma

37
Q

What does Paget disease of bone look like on H&E stain?

A

Mosaic pattern of woven and lamellar bone

38
Q

Is Paget disease of bone localized or more systemic?

A

Localized

39
Q

What are some common symptoms of Paget disease of bone?

A

Bone pain, increased hat size, lion-like face, hearing loss (from auditory foramen narrowing)

40
Q

What is avascular necrosis?

A

Ischemic damage leading to infarction of bone and marrow

41
Q

What is another name for avascular necrosis?

A

Osteonecrosis

42
Q

What are 5 causes of osteonecrosis?

A

Trauma, Caisson disease, high-dose corticosteroids, alcoholism, sickle cell

43
Q

What is the most common site of osteonecrosis?

A

Femoral head (due to insufficiency of medial circumflex femoral artery)

44
Q

What are the abnormal lab values in osteoporosis?

A

None - serum Ca, PO4, ALP, PTH are all normal

45
Q

What serum lab value might be abnormal in osteopetrosis?

A

Decreased calcium in severe, malignant disease

46
Q

What serum lab value is abnormal in Paget disease?

A

Increased ALP

47
Q

What are the lab values for serum Ca, PO4, ALP, and PTH in hypervitaminosis D?

A

Decreased: PTH
Increased: Ca, PO4
Unchanged: ALP

48
Q

What are two causes of hypervitaminosis D?

A
  1. Over-supplementation

2. Granulomatous disease (e.g. sarcoidosis)

49
Q

What is the major endocrine problem in osteitis fibrosa cystica?

A

Hyperparathyroidism

50
Q

What causes “brown tumors” in osteitis fibrosa cystica?

A

Fibrous replacement of bone, subperiosteal thinning

51
Q

When do we typically see osteitis fibrosa cystica?

A

Compensation for end stage renal disease

First Aid 2014 (24 decks)

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