Disease that can be fatal for 48,000

NST: It is an inherited disease but many people are not aware of it.
Inherited Cholesterol Disorder (ICD) is a disease that can prove fatal if left untreated and an estimated 48,000 Malaysians are believed to be affected.
"The disease is uncommon and most people don’t know they have it. The good news is that it is highly treatable," said consultant cardiologist Datuk Dr Khoo Kah Lin.
The more common form of ICD or Familial Hypercholesterolemia (FH) is Heterozygous FH, caused by an abnormal gene in one or both parents which is then passed down to their child.
The cholesterol level of those affected is double that of a healthy person. It affects one in 400 people and leads to coronary artery disease.
Men will experience their first heart attack sometime between the age of 40 and 45 while women, between 50 and 55.
It’s a one in a million chance for someone to have the rare Homozygous FH but two children in Malaysia died from the disease about seven years ago.
"If left untreated, all will die. Children with the Homozygous gene will have their first heart attack around the age of 10 and will die before they are 20 or 30," Dr Khoo said.
When two heterozygous gene carriers get married and one of their children inherits the FH gene, the child will have the Homozygous FH form, where the cholesterol level is four times that of a normal person.
As most people are not aware they carry the gene, the only warning is when fat deposits develop on certain parts of the body including at the elbows, knees, ankles and buttocks.
"In Homozygous carriers, the lumps develop by the time the child is one or two. In Heterozygous, the lumps normally develop after puberty," said Dr Khoo.
He advised people to feel their archilles tendon to see whether it has thickened as this is where cholesterol is deposited.
Consultant cardiologist Dr Suren Thuraisingham said there was also a large number of people who had high cholesterol but did not have Homozygous FH or Heterozegous FH.
"What is important for the public to know is that if they see no difference in their condition after diet and lifestyle changes then they have to go on drugs for the rest of their lives," he said.