In medicine, familial hypercholesterolemia is a rare disease characterised by very high LDL cholesterol and early cardiovascular disease running in families. It is a genetic disorder.

Signs and symptoms

---

• Elevated serum cholesterol, most notably the LDL fraction (VLDL and triglycerides are typically normal)
  • on lipoprotein electrophoresis (rarely done), a hyperlipoproteinemia type II pattern is recognised
• Premature cardiovascular disease, such as:
  • Angina pectoris, leading to PTCA or CABG
  • Myocardial infarction
  • Transient ischemic attacks (TIA's)
  • Cerebrovascular accidents/Strokes
  • Peripheral artery disease (PAOD)
• A family history of premature atherosclerosis
• Physical signs (not always present):
  • Tendon xanthomas (thickening of tendons due to accumulation of macrophages filled with cholesterol).
  • Xanthelasma palpabrum (yellowish patches above the eyelids)
  • Arcus senilis corneae, whitish discoloration of the iris

Types

---

There are two forms:

• Heterozygous FH (incidence 1:500-1:1,000, dependent on the population)
• Homozygous FH (incidence 1:1,000,000)

More on [ Familial hypercholesterolemia ]

Familial Hypercholesterolemia - Twitter Search

@kimatudm What about Dyslipidemia? Hereditary types like Familial Hypercholesterolemia? You've started preparing for USMLE? @manofmedicine
dfewgoodmen (Ovie Albert) Fri, 03 Feb 2012 18:46:37 -0000
@kimatudm What about Dyslipidemia? Hereditary types like Familial Hypercholesterolemia? You've started preparing for USMLE? @manofmedicine
Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia... http://t.co/N89Dzbrx
Life_Sciences_ (Life Sciences) Thu, 02 Feb 2012 21:03:14 -0000
Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia... http://t.co/N89Dzbrx
Familial_Hypercholesterolemia RSS feed