Bone Disorders Flashcards

1
Q

What is DiGeorge Syndrome? What do you see?

A

Disorder of pharyngeal pouch dysgenesis, see aplasia of parathyroid gland = decreased PTH secretion

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2
Q

What is the action of estrogen?

A

Increases OB activity, decreases OC activity, increases OPG secretion = decreased bone turnover

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3
Q

What are osteoblasts stimulated by? What are osteoclasts stimulated by? What are osteoclasts inhibited by?

A
OB = Estrogen, calcitriol, calcitonin, GH, TTGF
OC+ = RANK-L, PTH, glucocorticoids
OC- = OPG, IL-10, TGF-beta
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4
Q

What does anorexia nervosa cause?

A

hypogonadism, excessive exercise, hypopituitarism = decreased estrogen = osteoporosis

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5
Q

What is the action of glucocorticoids, anticonvulsants, and antidepressants?

A
gluco = stimulate OC
anti- = decrease serum Ca2+ levels
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6
Q

What drugs can cause osteoporosis?

A

Glucocorticoids, anti-convulsants, anti-depressants

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7
Q

What is the most common manifestation of osteoporosis? Is this symptomatic? What does this result in physiologically?

A

Vertebral compression fracture, 66% asymptomatic and just presents as height loss though can be symptomatic in acute presentations. Decreases TLC

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8
Q

What is the DEXA score? How is it used to dx osteoporosis/osteopenia? When should a pt get it?

A

measures bone density, osteoporosis if <2.5 from mean density, osteopenia -1 to -2.5. Should get in all women 65+

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9
Q

What are lab values for osteoporosis? osteopenia?

A

Normal = Ca2+, PO3-, ALP, PTH

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10
Q

What is the 1st line therapy for osteoporosis? What are other options? What is the MOA?

A

Oral bisphosphonates (-onate): prevent OC activity by binding to hydroxyapatite. Calcitonin: inhibits bone resorption. Denosumab: binds RANK-L. Teriparatide: similar to endogenous PTH (give only bolus, chronic would increase OC activity), Selective Estrogen R Modulator (SERM): Raloxifene, stimulates estrogen R –> increases OPG

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11
Q

What are complications of spine fractures?

A

chronic pain dvpmt, functional disability, kyphosis and Dowager’s hump, decreased quality of life, depression

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12
Q

What is pseudohypoparathyroidism? What are the sxs

A

when PTH R (Gs-alpha subunit) does not work - short stature, short 4 & 5th digits, high PTH and low Ca2+

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13
Q

What is osteogenesis imperfecta? What is another name for it? What is seen w/ it? What is it often confused with?

A

autosomal dominant pb, also called brittle bone disease, prevent collagen type 1 synthesis (makes up bones) –> multiple bone fractures w/o hx of trauma, blue sclera, can have hearing loss (bones don’t form properly), dental imperfections (can’t synthesize dentin). Often confused w/ child abuse

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14
Q

What happens during osteopetrosis?

A

genetic defect in Carbonic Anhydrase II = abnormal osteoclast activity results in thick dense bones made of immature substance since doesn’t reshape immature new bone made by OB. Bone marrow cavities fuller, less BM

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15
Q

What sxs are seen w/ osteopetrosis? What does this predispose the pt to?

A

anemia, thrombocytopenia, neutropenia = increased extramedullary hematopoiesis + possible CN palsy due to impingement from narrower foramina caused by bone enlargement, predispose to infection

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16
Q

What lab values are seen with osteopetrosis? Xray findings?

A

normal lab values, see erlenmeyer flask bones (bone-in-bone) that flare outwards, narrow foramina caused by bone enlargement

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17
Q

What acquired bone disorders lead to decreased bone formation

A

Osteoporosis, osteopenia, osteomalacia/rickets, hyperparathyroidism

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18
Q

what acquired bone disorders lead to increased bone formation?

A

Paget’s disease, Hypertrophic osteoarthropathy

19
Q

What inherited disorder leads to decrease bone formation?

A

osteoporosis imperfecta

20
Q

What inherited bone disorder leads to increased bone density?

A

Osteopetrosis

21
Q

In what environment do OB secrete collagen? in what environment do OC secrete collagenases?

A
OB = alkalosis
OC = acidosis, break down bone by secreting collagenases
22
Q

What is an example of a collagenase? What is it secreted by? What disorder is it deficient in?

A

carbonic anhydrase II, secreted by OC, deficient in osteopetrosis

23
Q

What causes osteomalacia? What do pts present w/? Labs?

A

vitamin D deficiency –> low VD, low Ca2+ and pO3- (low absorption from gut), high PTH, high Akl Phos –> diffuse bone pain, muscle weakness, fractures, bowing of long bones

24
Q

What is the tx for osteomalacia?

A

VD and Ca2+ supplementation –> sxs often resolve in 6 months

25
Q

What is seen on xray for osteomalacia?

A

osteopenia (low bone density), pseudofractures (loose zones, sclerotic margins)

26
Q

Who is at risk for osteomalacia?

A

Adults in nursing homes
Populations in northern climates w/ little sun exposure
Pts w/ chronic diarrhea or IBD (malabsorption of VD)
Lack of dietary intake of VD
Pts w/ liver or K disease, can’t convert VD to active form
Genetic conditions (organs not sensitive to VD)

27
Q

Which disease are due to inherited or acquired defects in bone architecture (not due to inappropriate hormonal or bone mineral regulation)?

A

Osteoporosis, osteopetrosis, Paget disease

28
Q

Which diseases are due to defects in bone mineral metabolism/inappropriate hormonal regulation?

A

osteomalacia/ricket’s, osteitis fibrosa cystica, hypervitaminosis D

29
Q

What is the cause of osteitis deformans? What is another name for it?

A

unknown underlying cause but due to abnormal OB and OC function, overactive bone remodeling = paget’s disease

30
Q

What is histology associated w/ Paget’s? Lab? Sxs? Imaging? What can it possible lead to?

A

Histology = thickened trabeculae w/ mosaic pattern of woven and trabecullar bone. Lab = increased Alk phos, normal Ca2+ and PO3-. CT = widened bone medullary space w/ areas of sclerosis and irregular cortex. Can lead to osteosarcoma due to disordered bone growth

31
Q

What is Ricket’s? What part of bone is affected? How does this differ from osteomalacia? What is required for ricket’s to occur?

A

children deficient in VD, growth plate affected not bone matrix (OM). Growth plates must be open

32
Q

What are the sxs associated w/ ricket’s? Labs? Xray?

A

reduced height and growth, bow legs (genu varum). Low VD, low Ca2+ and PO3-. X-ray = widening of epiphyseal growth plates + rachitic rosary (bead-like nodularity in anterior ribcage)

33
Q

What pts do we often see ricket’s in? When is the onset?

A

Infants who are breastfed (infant formulas and commercial milk fortified w/ VD) AND dark-skinned (block sunlight absorption and VD production)
Early-onset 6-23 months OR later 12-15 years (child’s nutritional needs increase dramatically)

34
Q

What is the tx for ricket’s? Does it resolve?

A

VD and Ca2+ supplements, may not resolve, extreme cases may need surgery. prognosis good if detected early

35
Q

What bone condition is seen with PHPT?

A

Osteitis Fibrosa Cystica

36
Q

What are the sxs of osteitis fibrosa cystica?

A

bone pain, frequent fractures, cystic bone formation filled w/ hemosiderin brown tissue + sxs of PHPT/hyperC

37
Q

What is the tx for PHPT?

A

parathyroidectomy

38
Q

What are sxs of hypocalcemia?

A

perioral numbness, muscle cramps, tetany, seizures

39
Q

What are sxs of Paget’s disease (osteitis deformans)?

A

Sxs = increased hat size, bone pain, hearing loss (narrowing of auditory foramen w/ compression of CN VIII, long bone chalk-stick fractures, osteoarthritis, possible high output HF due to AV shunt formation through bone.

40
Q

What is the tx for osteitis deforman?

A

Bisphosphonate = (-dronate), inhibits OC activity

41
Q

What is hypertrophic osteoarthropathy caused by?

A

underlying systemic cancer (usually lung) - paraneoplastic syndrome

42
Q

What are the sxs of hypertrophic osteoarthropathy?

A

can be asymptomatic, bony overgrowth in fingers (clubbing and nail elevation), bone pain and swelling, periostitis (inflammation periosteal layer) of long bones: synovial effusions

43
Q

What is the tx for hypertrophic osteoarthropathy?

A

NSAIDs for pain and discomfort, tx for underlying cancer