Familial Hypercholesterolaemia
Also written as FH.
| Examples | Huntington disease, Marfan syndrome, familial hypercholesterolaemia, neurofibromatosis | Cystic fibrosis, phenylketonuria, sickle cell disease, most inborn errors of metabolism |
What our notes say
- | Examples | Huntington disease, Marfan syndrome, familial hypercholesterolaemia, neurofibromatosis | Cystic fibrosis, phenylketonuria, sickle cell disease, most inborn errors of metabolism | (General & Systemic Pathology SAQ Paper II — 15 July 2025 (MBPA 3500, MKU Year 3,)
- Non-modifiable: increasing age, male sex (or post-menopausal female), and a positive family history/genetic predisposition (e.g. familial hypercholesterolaemia). (General & Systemic Pathology SAQ Paper II — 15 July 2025 (MBPA 3500, MKU Year 3,)
- Familial hypercholesterolaemia — LDL receptor defect, very high LDL, premature atherosclerosis (Renal, Liver, Cardiac & Adrenal Function Tests for Year 3)
- Familial disorders: Familial hypercholesterolaemia (FH) — defective LDL receptor; Familial dysbetalipoproteinaemia — elevated IDL (CRUSH COURSE YEAR 3 SEM 1 WORK (Part 1) )
- Familial hypercholesterolaemia — genetic disorder with high blood cholesterol (EXAM: Spot/Practical Examination)