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Integrated systems > Bone pathology > Flashcards

Bone pathology Flashcards

1
Q

Achondroplasia is caused by a defect in _ gene on chromosome _

A

Achondroplasia is caused by a defect in FGFR3 gene on chromosome 4

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2
Q

Achondroplasia is caused by a [type] mutation in the fibroblast growth factor receptor, which results in _ chondrocyte proliferation and endochondral ossification

A

Achondroplasia is caused by a gain of function mutation in the fibroblast growth factor receptor, which results in decreased chondrocyte proliferation and endochondral ossification
* Due to the constituative activation of the FGF receptor the chondrocyte proliferation is inhibited and we see decreased longitudinal bone growth

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3
Q

Achondroplasia is normally [genetic pattern]

A

Achondroplasia is normally sporatic mutation
* Can be autosomal dominant, homozygosity is potentially fatal
* It usually occurs as a sporatic mutation but once a person has it then they pass it down in autosomal dominant fashion

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4
Q

_ is a known risk factor of achondroplasia

A

Increased paternal age is a known risk factor of achondroplasia

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5
Q

Achondroplasia will present with _ stature/size and [craniofacial abnormalities]

A

Achondroplasia will present with disproportionately short stature/size and macrocephaly, frontal bossing, flattened nose, prominent brow

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6
Q

Achondroplasia can cause [HEENT pathology]

A

Achondroplasia can cause recurrent otitis media
* Due to middle ear deformity

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7
Q

Achondroplasia may be associated with significant msk deformities which require surgery such as _

A

Achondroplasia may be associated with significant msk deformities which require surgery such as scoliosis, spinal stenosis, genu varum
* Mostly offer supportive care (physical therapy)
* Surgery as needed
* Sometimes early growth hormone therapy used

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8
Q

Degradation of the bone due to primary or secondary hyperparathyroidism is called _

A

Degradation of the bone due to primary or secondary hyperparathyroidism is called osteitis fibrosa cystica

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9
Q

Adenoma is a cause of [primary/secondary] hyperparathyroidism

A

Adenoma is a cause of primary hyperparathyroidism
* We see high calcium rather than low

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10
Q

Increased PTH –> _ –> activation of osteoclasts –> formation of cystic bone spaces

A

Increased PTH –> RANKL activation –> activation of osteoclasts –> formation of cystic bone spaces

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11
Q

“Brown tumors” are cystic bone spaces with _ deposition; they are caused by _

A

“Brown tumors” are cystic bone spaces with hemosiderin deposition; they are caused by hyperparathyroidism
* Aka osteitis fibrosa cystica

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12
Q

Secondary hyperparathyroidism is caused by _

A

Secondary hyperparathyroidism is caused by CKD

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13
Q

Primary hyperparathyroidism is either idiopathic, or caused by _ or _

A

Primary hyperparathyroidism is either idiopathic, or caused by parathyroid adenoma or malignancy
* May be paraneoplastic syndrome from carcinoma of the lung, breast, kidney, etc which secrete PTHrp

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14
Q

Brown tumors will present with [clinical manifestations]

A

Brown tumors will present with bone pain
* Additionally primary hyperparathyroidism will present with hypercalcemia- bones, stones, groans, and psychiatric overtones

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15
Q

The bone mineral density in osteitis fibrosa cystica will be _ ; x-ray will also reveal subperiosteal thinning, cystic lesions and a [classic skull finding]

A

The bone mineral density in osteitis fibrosa cystica will be decreased ; x-ray will also reveal subperiosteal thinning, cystic lesions and a salt-and-pepper skull

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16
Q

Serum labs in primary hyperparathyroidism:
Ca2+
PO4-
ALP
PTH

A

Serum labs in primary hyperparathyroidism:
Ca2+ high
PO4- low
ALP high
PTH high

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17
Q

Serum labs in secondary hyperparathyroidism:
Ca2+
PO4-
ALP
PTH

A

Serum labs in secondary hyperparathyroidism:
Ca2+ Low
PO4- High
ALP High
PTH High

Recall that in CKD there is decreased 1-a-hydroxylase (made by the kidneys) so less calcium can be absorbed in the gut; phos is high because kidneys are not excreting it appropriately

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18
Q

Brown tumors are treated with _ and _

A

Brown tumors are treated with vitamin D and addressing the underlying cause

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19
Q

Paget disease of bone is also called _ and it is caused by _

A

Paget disease of bone is also called osteitis deformans and it is caused by increased activity between RANK + RANKL –>
Increased activity of NF-kB –>
Disorganized osteoclast and osteoblast activity
Woven bone formation

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20
Q

Paget disease of the bone involves [bone pattern]

A

Paget disease of the bone involves woven bone formation

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21
Q

Name the (4) bone remodeling phases of paget disease

A

Name the (4) bone remodeling phases of paget disease
1. Lytic phase
2. Mixed lytic & blastic phase
3. Sclerotic phase
4. Quiescent stage

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22
Q

During the _ phase of paget disease the activity of osteoclasts and osteoblasts is down

A

During the quiescent phase of paget disease the activity of osteoclasts and osteoblasts is down

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23
Q

During the _ phase of paget disease the osteoclast activity > osteoblast leading to bone resorption

A

During the lytic phase of paget disease the osteoclast activity > osteoblast leading to bone resorption

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24
Q

During the _ phase of paget disease there is increased activity of both osteoclasts and osteoblasts such that they are working equally

A

During the mixed lytic and blastic phase of paget disease there is increased activity of both osteoclasts and osteoblasts such that they are working equally
* The rate of bone formation is increased compared to the lytic phase 1

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25
Q

During the _ phase of paget disease the activity of the osteoclasts < osteoblasts leading to increased bone formation

A

During the sclerotic phase of paget disease the activity of the osteoclasts < osteoblasts leading to increased bone formation

26
Q

Paget disease is often an asymptomatic condition that affects [population]

A

Paget disease is often an asymptomatic condition that affects adults > 55 years old
* May present as bone pain, enlarging skull size, hearing impairments (compression of the nerve), or pathologic fractures
* Complications include high-output cardiac failure and osteosarcoma

27
Q

Paget disease most commonly affects [bones]

A

Paget disease most commonly affects skull, vertebral column, pelvis, long bones

28
Q

Paget disease will show the following…
X-ray:
Labs:

A

Paget disease will show the following…
X-ray: areas of osteolytic lesions and sclerosis
Labs: normal Ca2+, phosphorus, PTH
BUT ALP will be elevated

29
Q

The only elevated lab expected in paget disease is _

A

The only elevated lab expected in paget disease is ALP

30
Q

First line treatment of paget disease is _

A

First line treatment of paget disease is bisphosphonate (alendronate, risedronate, zoledronic acid)
* Alternatively can use calcitonin, vitamin D/calcium

31
Q

Osteomalacia and rickets are both caused by _

A

Osteomalacia and rickets are both caused by vitamin D deficiency
* Without vitamin D we cannot absorb calcium in the gut
* Without calcium we can not achieve healthy osteoid mineralization

32
Q

Rickets will cause [manifestations] in children

A

Rickets will cause impaired growth plate mineralization in children
* Leads to bony deformity like genu varum and kyphosis
* Can also have bone pain, pathologic fractures, myopathy

33
Q

Children with risk factors such as _ are at increased risk of rickets

A

Children with risk factors such as breastfeeding, malabsorption of fat soluble vitamins, reduced UV exposure are at increased risk of rickets

34
Q

X-ray of osteomalacia may reveal [findings]

A

X-ray of osteomalacia may reveal pseudofractures (looser zones) or osteopenia

35
Q

X-ray of rickets may reveal [findings]

A

X-ray of rickets may reveal metaphyseal cupping/fraying, widened epiphysis, rachitic rosary, craniotabes

36
Q

What serum labs are expected with osteomalacia/rickets?
Ca2+
PO3-
ALP
PTH

A

What serum labs are expected with osteomalacia/rickets?
Ca2+ low
PO3- low
ALP high
PTH high

37
Q

Diagnosis?

A

Rickets- rachitic rosary (increased cartilage in kids)

38
Q

Treatment of osteomalacia/rickets should include _

A

Treatment of osteomalacia/rickets should include vitamin D supplementation, increased Ca2+ intake

39
Q

Diagnosis in this child?

A

Rickets- showing cupping and fraying of the metaphyses

40
Q

_ is a genetic mutation of osteoclasts that results in decreased bone resorption and increased thick, poorly formed bone

A

Osteopetrosis is a genetic mutation of osteoclasts that results in decreased bone resorption and increased thick, poorly formed bone

41
Q

Osteopetrosis is caused by a mutation in _ which impairs the osteoclasts ability to create an acidic environment (needed for bone resorption)

A

Osteopetrosis is caused by a mutation in carbonic anhydrase II which impairs the osteoclasts ability to create an acidic environment (needed for bone resorption)

42
Q

Osteopetrosis is also called marble bone disease because of the increased risk of fracture due to _

A

Osteopetrosis is also called marble bone disease because of the increased risk of fracture due to thick, poorly formed bone

43
Q

In addition to recurrent pathologic fractures, osteopetrosis may present with [neuro finding] or [hematologic finding]

A

In addition to recurrent pathologic fractures, osteopetrosis may present with cranial nerve palsies or pancytopenia
* Cranial nerve palsies due to hyperostosis of foramina
* Pancytopenia because of overgrowth of cortical bone crowding the bone marrow space- can lead to extramedullary hematopoiesis

44
Q

Bone-in-bone appearance (stone bone) or symmetric dense osteosclerosis are common findings on x-ray of _

A

Bone-in-bone appearance (stone bone) or symmetric dense osteosclerosis are common findings on x-ray of osteopetrosis

45
Q

Serum labs of osteopetrosis will show:
Ca2+
PO4-
ALP
PTH

A

Serum labs of osteopetrosis will show:
Ca2+ normal or low
PO4- normal
ALP normal
PTH normal

46
Q

Sometimes osteopetrosis may require _ for treatment; other times _ may be sufficient

A

Sometimes osteopetrosis may require bone marrow transplant for treatment; other times high dose calcitriol may be sufficient
* Calcitriol is activated vitamin D which may stimulate dormant osteoclasts

47
Q

Osteoporosis occurs when the activity of osteoclasts > osteoblasts leading to bone resorption and a loss of _ mass

A

Osteoporosis occurs when the activity of osteoclasts > osteoblasts leading to bone resorption and a loss of cortical and trabecular bone mass

48
Q

Type I osteoporosis is caused by _

A

Type I osteoporosis is caused by low estrogen (postmenopausal osteoporosis)

49
Q

Type II osteoporosis is caused by _

A

Type II osteoporosis is caused by age-related osteoblast decline (senile osteoporosis)
* Our osteoblasts decline as we age

50
Q

Name some risk factors for osteoporosis

A

Name some risk factors for osteoporosis:
* Old age
* Female sex
* Smoking
* Alcohol
* Inactivity
* Poor nutrition or malabsorption (vitamin D, calcium)

51
Q

Secondary causes of osteoporosis include:

A

Secondary causes of osteoporosis include:
* Corticosteroids
* Hyperparathyroidism
* Renal disease
* Proton pump inhibitors (decrease Ca2+ and Mg2+)

52
Q

The most common fragility fractures that result from osteoporosis include _ , _ , _

A

The most common fragility fractures that result from osteoporosis include vertebral fractures , femoral neck , distal radius

53
Q

DEXA scan with T-score _ is diagnostic for osteoporosis

A

DEXA scan with T-score < or equal -2.5 is diagnostic for osteoporosis

54
Q

T-score -1 to 2.4 SDs on DEXA is diagnostic for _

A

T-score -1 to 2.4 SDs on DEXA is diagnostic for osteopenia

55
Q

Pseudofractures or looser zones are commonly associated with _

A

Pseudofractures or looser zones are commonly associated with osteomalacia

56
Q

First line pharmacologic therapy for osteoporosis is _

A

First line pharmacologic therapy for osteoporosis is bisphosphonates

57
Q

_ is a monoclonal antibody against RANKL that can be used for osteoporosis

A

Denosumab is a monoclonal antibody against RANKL that can be used for osteoporosis

58
Q

_ is a SERM drug that can be used for osteoporosis treatment

A

Raloxifene is a SERM drug that can be used for osteoporosis treatment

59
Q

Adverse effects of bisphosphonates include _ , _ , and _

A

Adverse effects of bisphosphonates include jaw osteonecrosis , esophagitis , and hypocalcemia

60
Q

Diagnosis?

A

Erlenmyer flask- osteopetrosis

Integrated systems (8 decks)

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