While FH has been diagnosed in patients from several ancestral lines, the highest prevalence is in Afrikaans people, according to Prof David Marais, head of the division of lipidology in Groote Schuur's Department of Medicine. However, the Indian and Jewish communities are also at risk.

Advertisement

It is estimated that 1 in 75 individuals in these three communities may be affected. This condition is so prevalent among the Afrikaans community because the disease arrived in South Africa with a Huguenot couple and spread from them - a phenomenon known as "the founder effect".

A consequence of FH is often the early development of problems such as atherosclerosis, or narrowing of the arteries, which translates directly into heart problems.

Children also at risk
Research shows that the average age of the first heart attack for people with FH is 45 years, despite the ethnic group. But researchers are worried about the fact that Afrikaans children are also affected. According to Marais, children as young as six and seven have had to undergo heart bypass surgery as a result of the condition.

FH is inherited in a dominant fashion, which means that the presence of only a single FH gene from one affected parent can produce the condition in the child who inherits it. This translates into an average of 50% of the offspring.

In a person with the gene for FH, cholesterol levels (mainly LDL cholesterol) are raised from birth, making early diagnosis possible. However, clinical disease usually shows itself in adulthood.

Increased cholesterol synthesis
The genetic defect prevents LDL cholesterol from being effectively removed from the bloodstream by the LDL receptor. This also stimulates increased cholesterol synthesis in the body.

Diagnosis can often be made clinically and from routine laboratory measurements. However, molecular techniques now permit definite identification of affected individuals and, even more importantly, prenatal testing.

- (The Heart and Stroke Foundation, October 2007)
 

Print this article

Rate this article Poor 1 2 3 4 5 Excellent

JOBS

Operations Manager R20,000-25,000 Per Month Cost To Company Incl Benefits Gauteng - East Rand Financial Accountant: CA(SA) R400,000-500,000 Per Annum Cost To Company Gauteng - Johannesburg Key Account Manager Gauteng Java Developer-CT Western Cape - Cape Town Java Developer-Jozi Gauteng Account Manager R460,000-540,000 Per Annum Cost To Company Plus Benefits Gauteng Account Manager R460,000-540,000 Per Annum Market Related Plus Benefits South Africa Case Manager R210,000-220,000 Per Annum Negotiable Gauteng - Pretoria Find more jobs Register your CV Post a job