Black population
- heterozygote protective from malaria
- AD
Abnormal peptide substitution in ß chain of Hb
- HbS
Homozygous 1%
- HbSS
- sickling occurs with relative hypoxia
- trapped in blood vessels
- necrosis & pain
Heterozygous 8%
- sickle cell trait
- Hb SA
Hereditary bleeding disorder due to defective and/or deficient factor VIII molecule
Inherited X-linked recessive disorder
- occurs almost solely in males
- female carriers usually asymptomatic
- 30% have no family history
FVIII deficiency
X-linked disorder
- 1:10 000
- all ethnic groups
Palmar Fibromatosis
AD with variable penetration
Murrell's Theory of Pathogenesis
1. Microvascular ischaemia
Pigmented Villo-Nodular Synovitis
- benign inflammatory process that arises in synovial tissues
- contains significant amounts of hemosiderin
Age: 20 - 50
Sex: M > F
A. Diffuse
- throughout joint synovium
- more difficult to treat / excise fully
Non-traumatic or traumatic condition of femoral head with bone death
20 - 50 yo (average 38)
- M: F 4:1
70-80% with AVN will progress within 1 year
Osteochondritis Dissecans
- separation of avascular fragment of bone & cartilage
M : F = 2:1
Mean age 18 years
- can present as young as 9
4:1000
A chronic systemic, autoimmune inflammatory disease of unknown cause
1% of population
M:F = 1:3
Peak onset 40 years
Most common inflammatory arthropathy
Autoimmune
- trigger not identified
- cell mediated immune response
Spondylolithesis caused by
- facet joint degeneration
- no pars or dysplastic pathology
- disc space usually preserved
Most common at L4/5 level
More common in elderly females
- F: M = 5:1
Diabetics