pathogenesis

Sickle Cell Disease

Epidemiology

 

Black population

- heterozygote protective from malaria

- AD

 

Pathogenesis

 

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

Hemophilia

Definition

 

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

 

Haemophilia A

 

FVIII deficiency

 

X-linked disorder

- 1:10 000

- all ethnic groups

PVNS

Definition

 

Pigmented Villo-Nodular Synovitis

- benign inflammatory process that arises in synovial tissues

- contains significant amounts of hemosiderin

 

Epidemiology

 

Age: 20 - 50

Sex: M > F

 

Types

 

A.  Diffuse

- throughout joint synovium

- more difficult to treat / excise fully

 

Background

Bilateral Hip AVN Xray

 

Definition

 

Non-traumatic or traumatic condition of femoral head with bone death

 

Epidemiology

 

20 - 50 yo (average 38)

- M: F 4:1

 

NHx  

 

70-80% with AVN will progress within 1 year

 

Rheumatoid Arthritis

Definition 

 

A chronic systemic, autoimmune inflammatory disease of unknown cause

 

Epidemiology

 

1% of population

 

M:F = 1:3

 

Peak onset 40 years

 

Most common inflammatory arthropathy

 

Aetiology

 

Autoimmune

- trigger not identified

- cell mediated immune response

 

Spondylolisthesis Degenerative

Definition

Spondylolithesis L4/5

Spondylolithesis caused by

- facet joint degeneration

- no pars or dysplastic pathology

- disc space usually preserved

 

Most common at L4/5 level

 

Epidemiology

 

More common in elderly females

- F: M = 5:1

 

Diabetics

 

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