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

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• 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

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There are two forms:

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

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MESO-Rx Forum: CBC labs: 61yo M Hx: familial hypercholesterolemia PVD Peripherial vascular disease HT hypertension RAS http://bit.ly/4reWAO
anabolicfreedom (MESO-Rx) Tue, 22 Dec 2009 22:55:55 -0000
MESO-Rx Forum: CBC labs: 61yo M Hx: familial hypercholesterolemia PVD Peripherial vascular disease HT hypertension RAS http://bit.ly/4reWAO
open-labl extension stdy 2 assess long-term safety & efficacy of isis 301012 in ppl w/ familial hypercholesterolemia or http://bit.ly/6rhjpi
_clinical_trial (Clinical Trials) Sun, 20 Dec 2009 00:14:43 -0000
open-labl extension stdy 2 assess long-term safety & efficacy of isis 301012 in ppl w/ familial hypercholesterolemia or http://bit.ly/6rhjpi

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