Finding the gene(s) for severely elevated cholesterol in Filipinos
Familial hypercholesterolemia (FH). It’s a disease that causes severe elevation in total cholesterol among several or most members of a family. Persons with FH have cholesterol levels reaching as high as 700 to 1200 mg/dl, compared to the optimum level of 200 mg/dl in a normal person. So, a person with FH has a very high chance of getting a heart attack and other heart-related diseases at an early age.
The bad news - it’s genetic. It’s inherited or passed on from one generation to the next, from grandparents to grandchildren. If several of your family members have it, there’s a chance you might have it too. Take note: it’s a chance, not a certainty.
The good news - it’s genetic. Understanding this disease is key to developing treatments and drugs against it. More so, knowing that this disease runs in your family empowers you to face the risk of having the disease, with early detection, diagnosis and treatment along with a better lifestyle lowering your risk of developing FH. Also, once specific genes for the disease are identified, scientist and doctors have the ability to use this knowledge for novel therapies specific to countering the effects of this gene’s function. One such gene is identified as LDLR or “low-density lipoprotein receptor”. A mutation in this gene was found to cause FH in some patients.
It’s extremely critical that families who may have this disease are diagnosed early BEFORE the first heart attack happens. So, if you’re a young, middle age and productive Filipino with parents or near relatives who’ve had heart attacks in their 40s to 50s, how will you know if the same MIGHT happen to you?
That’s the exact question that researchers in UP-PGH are trying to answer with their study published in the Journal of Artherosclerosis and Thrombosis.
Dr. Felix Punzalan and his group made the first international genetic study among Filipinos with Familial Hypercholesterolemia. They seek to identify, follow-up and promote treatment of Filipino patients with FH. They studied 60 patients with clinical features of Familial Hypercholeterolemia and found that among these patients, those with extremely high scores of FH have a higher chance of carrying the mutated gene LDLR. Their study is significant because until now there have been no data about FH and mutations in LDLR among Filipinos. As stated by Punzalan and group in their paper:
“This study shows that Familial Hypercholesterolemia exists in our population. Although this is a high risk group, the prognosis for patients and families with FH has improved substantially due to advances in both the recognition and treatment of this disorder. The challenge among clinicians is early recognition of individuals with clinical features of FH and subsequent evaluation of family members to allow early detection of this high risk group.”
Here is the link and abstract to Punzalan et al. 2005 paper.
Here are more information on FH, particularly signs and symptoms, treatments and tests.
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July 2nd, 2006 at 2:11 am
[…] Research on human diseases is very much alive in the Philippines and Grace of Filipina Soul, who also writes b5media’s Flu Patrol blog, contributes two very readable pieces on Filipinos in genetics research: familial hypercholesterolemia and maple syrup urine disease. […]
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July 18th, 2006 at 10:46 am
[…] Filipino Soul wrote two posts about genetics research by Filipinos on maple syrup urine disease and familial hypercholesterolemia as a blog carnival for fellow B5′er Genetics and Health under the ”protein” section (practical genetics applications). Research on human diseases is very much alive in the Philippines. […]
November 29th, 2006 at 9:49 am
Try eating more health food may be a natural alternative to lower cholesterol levels like: Salad dressings, fat-free margarine, low-fat meats and sugar-free products. These are good substitutes and they sometimes taste good enough.