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Bone diseases Flashcards

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1
Q

Achondroplasia: what is it?

A

Failure of longitudinal bone growth -> short limbs

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2
Q

Achondroplasia: what kind of ossification is affected, and which is not affected?

A

Endochondral ossification is affected -> short limbs

Membranous ossification intact -> relatively big head

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3
Q

Achondroplasia: which protein is affected? Which cells are affected?

A

Constitutive activation of Fibroblast growth factor receptor 3 (FGFR3) -> inhibits chondrocytes proliferation

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4
Q

Achondroplasia: what percentage of mutations occur sporadically (during spermatogenesis?

A

85%

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5
Q

Achrondroplasia: genetics?

A

Autosomal dominant with full penetrance (homozygoty is lethal)

85% of mutations occur sporadically

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6
Q

Achondroplasia: risk factor?

A

High paternal age

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7
Q

What is the most common cause of short-limbed dwarfism?

A

Achrondroplasia

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8
Q

Osteoporosis: what is it?

A

Loss of bone mass, both cortical and trabecular, despite normal bone mineralization and lab values

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9
Q

Osteoporosis: lab values of calcium and phosphate?

A

Normal

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10
Q

Osteoporosis: most common cause?

A

Low estrogen levels and old age: increased bone resorption

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11
Q

Osteoporosis: can be secondary to which conditions?

A

Hyperparathyreodism
Hyperthyreodism
Multiple myeloma
Malabsorption syndromes
Anorexia

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12
Q

Osteoporosis: can be secondary to which medications?

A

Steroids
Alcohol
Anticonvulsants
Anticoagulants
Thyroid replacement therapy

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13
Q

Osteoporosis: how to diagnose?

A

DEXA-scan (lumbar spine, total hip and femoral neck with a T-score of -2.5)

OR

Fragility fracture (fall from standing height, minimal trauma)

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14
Q

Osteoporosis: when to screen?

A

1x in females >65

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15
Q

Osteoporosis: prophylaxis?

A

Regular weight bearing exercise, adequate calcium and vit D intake throughout adulthood

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16
Q

Osteoporosis: DEXA of what and which values?

A

Lumbar spine, total hip, femoral neck. T-score <2.5

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17
Q

Osteoporosis: treatment?

A

Biphosphonate

Other:
- Teriparatide (synthetic PTH, promotes osteoblast survival)
- SERM (selective estrogen receptor modulators)
- Rarely calcitonin, denosumab (monoclonal antibody against RANKL)

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18
Q

Osteoporosis: complication?

A

Vertebral compression fracture: acute back pain, loss of height, kyphosis

Can also present with fractures of femoral neck and distal radius

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19
Q

What is a fracture of the distal radius?

A

Colles fracture

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20
Q

Colles fracture

A

Fracture of distal radius

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21
Q

What is loss of bone mass with normal mineralization and lab values?

A

Osteoporosis

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22
Q

Osteopetrosis: what is it?

A

Failure of bone resorption -> thickened dense bones that are prone to fracture

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23
Q

Osteopetrosis: which cells are defective?

A

Osteoclasts (failure of bone resorption)

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24
Q

Osteopetrosis: underlying pathophysiology

A

Mutations impair osteoclasts to generate acidic environment

Acidic environment is needed for bone resorption

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25
Osteopetrosis: what happens to the bone marrow?
Overgrowth of bone fills marrow space -> pancytopenia, extremedullary hematopoiesis
26
Osteopetrosis: lab values of blood cells?
Pancytopenia
27
Osteopetrosis: complication?
Cranial nerve impingement and palsies due to narrowed foramina
28
Osteopetrosis: x-ray?
Diffuse symmetric sclerosis
29
Osteopetrosis: treatment?
Bone marrow transplant curative due as osteoclasts are derived from monocytes
30
Thickened, dense bones that are bone to fracture. Which disease?
Osteopetrosis
31
Failure of bone resorption. Which disease?
Osteopetrosis
32
Which disease has defective osteoclasts and failure of bone resorption?
Osteopetrosis
33
Osteomalacia: pathophysiology?
Defective mineralization of osteoid (adults)
34
Rickets: pathophysiology?
Defective mineralization of cartilaginous growth plate (children)
35
Osteomalacia/rickets: most common cause?
Vit D deficiency Leads to defective mineralization
36
Osteomalacia/rickets: pathophysiology?
Defective mineralization (due to Vit D deficiency)
37
Osteomalacia: x-ray?
Osteopenia and pseudofractures (Looser zone/Milkman lines)
38
Rickets: x-ray?
Epiphyseal widening and metaphyseal cupping/fraying
39
Children with rickets: symptoms?
Pathological bow legs (genu varum) Beadlike costochondral junctions (rachitic rosary) Craniotabes (soft skulls)
40
Genu varum, rachitis rosary, craniotabes. Which disease?
Rickets (defective mineralization due to vit D deficiency)
41
Pathological bow legs, beadlike costochondral junctions and a soft skull. Which disease?
Rickets (defective mineralization due to vit D deficiency)
42
What does Vit D deficiency (osteomalacia/rickets) do to calcium, PTH and phosphate?
Vit D low -> serum calcium decreases -> PTH secretion increases -> serum phosphate decreases Vit D helps calcium resorption
43
What happens to osteoblast activity in osteomalacia/rickets?
Osteoblast activity increases ALP also increases
44
Osteotis deformans: other name?
Paget's disease
45
Paget's disease: other name?
Osteitis deformans
46
Osteitis deformans/Paget: pathophysiology
Localized disorder of bone remodeling caused by increased osteoclastic activity followed by increased osteoblastic activity, forms poor quality bone
47
Osteitis deformans/Paget: what is wrong with the bone?
Remodeling is of poor quality
48
Osteitis deformans/Paget: which cells are affected?
Increased activity osteoclasts Followed by increased activity osteoblasts, forms poor quality bone
49
Osteitis deformans/Paget: lab values?
Calcium, phosphate and PTH normal ALP increased
50
Osteitis deformans/Paget: what are the levels of calcium, phosphate and PTH?
normal
51
Osteitis deformans/Paget: what is the lab value of ALP?
Increased
52
Osteitis deformans/Paget: histology?
Mosaic pattern of woven and lamellar bone (osteocytes within lacunae in chaotic juxtapositions)
53
Osteitis deformans/Paget: fracture?
Long bone chalk stick fractures
54
Osteitis deformans/Paget: complications?
Heart failure (due to arteriovenous shunts) Osteosarcoma Hearing loss
55
Osteitis deformans/Paget: increased risk of which malignity?
Osteosarcoma
56
Osteitis deformans/Paget: what can happen to skull?
Hat size increase due to skull thickening
57
Which disease can increase hat size?
Osteitis deformans/Paget, due to thickening of the skull
58
Stages of Paget diseas?
Early destructive (lytic): osteoclasts Intermediate (mixed): osteoclasts and blasts Late (sclerotic/blastic): osteoblasts
59
Can osteitis deformans/Paget enter a quiescent phase?
Yes
60
Osteitis deformans/Paget: treatment?
Biphosphonates (inhibit osteoclasts)
61
What do biphosphonates do?
Inhibit osteoclasts
62
Which bone disease can cause hearing loss?
Osteitis deformans/Paget
63
Avascular necrosis of bone: what is it?
Infarction of bone and marrow, very painful
64
Avascular necrosis: most common site?
Femoral head (watershed zone between medial femoral circumflex and branch of obturator artery)
65
Mnemonic avascular necrosis?
CASTS Bend LEGS
65
Between which arteries the watershed zone of the femoral head?
Medial femoral circumflex Branch of obturator artery
66
Causes of avascular necrosis?
CASTS Bend LEGS C orticosteroids A lcohol (chronic) S ickle cell disease T rauma S LE B 'the Bends' e n d LE ggs-Calve-Perthes G aucher S lipped capital femoral epiphysis
67

Musculoskeletal system (17 decks)

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