Bone disorders Flashcards

1
Q

What are common bone disorders?

A

Osteoporosis

Osteogenesis imperfecta

Fibrodisplasia ossificans progressiva

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2
Q

What is the epidimeology of osteoporosis?

A

Aging population

Predominantly female patients

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3
Q

What are possible reasons for increased prevalence of ostoporosis in females?

A

Oestrogen deficiency - menopause

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4
Q

Is osteoporosis an acquired disease?

A

Yes

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5
Q

What type of bone is more affected by osteoporosis?

A

Spongy, trabecular bone is more affected that cortical bone

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6
Q

What are the two types of osteoporosis that exists?

A

Primary osteoporosis - not caused by underlying disease

Secondary osteoporosis - caused by medication/ immobilisation or impaired dietary calcium uptake

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7
Q

What are characteristics of osteoarthritis?

A

Articular cartilage loss

Subchondral bone thickening

Osteophyte formation

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8
Q

What are osteophytes?

A

Bony projection associated with degeneration of cartilage joints

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9
Q

What is abnormal in osteoarthritic articular cartilage?

A

Decreased concentration in collagen type-II

Decreased aggrecan integrity

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10
Q

In OA, there is increased formation of hydroxyapatite

TRUE or FALSE

A

TRUE

Consistent with hypertrophic chondrocyte changes

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11
Q

What is a key marker of chondrocyte hypertrophy?

A

MMP13

Critical target for OA research

WNT signalling pathway are important regulators of MMP13

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12
Q

What are treatments of OA?

A

Blocking bone resorption

Hormone replacement therapy - target decreased oestrogen

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13
Q

What is a way to block bone resorption?

A

Biphosphonates

Bind to hydroxyapatite and reduce activity and formation of osteoclasts

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14
Q

What is osteogenesis imperfecta?

A

Genetic disorder

Autosomal recessive and dominant forms (1:20 000)

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15
Q

What is OI caused by?

A

Mutations affecting Collagen type I biosynthesis

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16
Q

What are the symptoms of OI?

A

Brittle bones

Prone to fractures

17
Q

What are the treatments for OI?

A

Biphosphonates

Surgery

Physical therapy

No curative treatments available

18
Q

What is Fibrodisplasia ossificans progressiva?

A

Very rare genetic condition

Autosomal dominant

Median age of survival = 40 years

19
Q

What causes FOP?

A

Consistently active BMP-receptor type I

Transformation of connective and muscle tissue into bone - ectopic ossification

20
Q

What are the treatment options available for FOP?

A

Surgical removal attempts

Clinical testing - small-molecule kinase inhibitors designed to selectively block ACVR1

21
Q

Why do surgical removal of bone in FOP lead to worsening of condition?

A

Any insult to tissue results in ectopic bone formation