Familial hypercholesterolaemia
Description
- Autosomal dominant disorder of LDL receptor-mediated clearance
- Lifelong elevated LDL-C from birth -> cumulative LDL burden is what drives risk
- Isolated hypercholesterolaemia with NORMAL triglycerides - the discriminating biochemistry
- Heterozygous (HeFH) vs homozygous (HoFH) differ in degree and in timing, not in mechanism
| HeFH | HoFH | |
|---|---|---|
| Frequency | ~1:250 | ~1:300,000 |
| Untreated LDL-C | 5-13 mmol/L | >13 mmol/L |
| LDL-receptor activity | Reduced (~50%) | Absent or <15% |
| First event | MI in 30s-40s (M), ~10 yrs later (F) | MI and aortic stenosis before age 20 |
| Xanthomata | Tendon (Achilles, extensor tendons, patellar) | Cutaneous/planar from childhood - finger webs, buttocks, sites of trauma |
- *The single most under-diagnosed treatable cause of premature CAD* - ~100,000 Australians, <10% identified
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