Friday, June 26, 2009

Familial hypercholesterolemia: life saving cascade testing

Familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an inherited condition characterized by very high blood bad cholesterol (LDL or low density lipoprotein) levels. It is estimated that 1 in 500 UK residents suffers from FH and will have dangerously high levels of bad cholesterol from an early age.

Most FH patients have a mutated LDLR gene. Victims with only one abnormal gene will likely suffers premature cardiovascular disease at the young age of 30 to 40. Those with 2 abnormal gene will likely suffer severe cardiovascular disease while at tender childhood.

It is estimated that 50% of men and 33% of women with familial hypercholesterolaemia will suffers a heart attack before reaching 60 years of age.

Treatment of familial hypercholesterolaemia

Patients with familial hypercholesterolemia can be treated with statin drug which can prolong the lifespan to almost normal. It is thus important to screen families if any member of the familial is tested positive for familial hypercholesterolaemia and anyone testing positive for FH should be put on statin drug.

Cascade testing (CT)

Lab medicine The sequencing of tests to diagnose a disease or process–eg, familial hypercholesterolaemia; Cascade Testing is appropriate when a 'gold standard' method is technically demanding and/or costly and the diagnosis can usually be established by simpler or more cost-effective strategies.

Dr Dermot Neely, consultant in clinical biochemistry and metabolic medicine at Newcastle upon Tyne Hospitals NHS Trust, said cascade testing with DNA diagnosis was very effective in practice.



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