Familial hypercholesterolemia: The need for awareness in Sri Lanka
Familial Hypercholesterolemia (FH) is a condition in which there is high blood cholesterol. Around the world about 1 in 300 people have FH. In a study in Sri Lanka with lipid profiles in a tertiary-care hospital and a primary-care setting the prevalence was 1:217.
In 1998, the World Health Organization (WHO) recognised familial hypercholesterolemia as a global public health problem. FH is a silent killer as untreated FH carries a higher risk of early heart disease. FH is underdiagnosed due to a lack of awareness among the public and medical community. It is important to identify and treat FH early. If left untreated, FH leads to heart attacks, coronary heart disease, and even death prematurely. It is not unusual for someone to detect FH only once they have had a heart attack or stroke.
Why is it called FH?
Hypercholesterolemia means ‘too high cholesterol in the blood’. ‘Familial’ means it runs in families. Parents can pass the disease to children and therefore it is essential to screen first- and second-degree relatives (i.e. parents, siblings children, aunts/uncles, nieces/nephews, and grandparents) of a person diagnosed with FH, to detect affected family members.
There are two types of FH. If one inherits one mutation it is termed heterozygous familial hypercholesterolemia (HeFH) and if both abnormal mutations are inherited it is called homozygous familial hypercholesterolemia (HoFH).
Why is diagnosing FH important and how is it different from other types of hypercholesterolaemias?
Anyone can develop high cholesterol due to aging, combination of bad diet, high BMI and genetic factors. In FH the high levels of cholesterol are caused by genentics and the accumulation of cholesterol occurs from birth.
In FH the liver cannot clear cholesterol out of the body as in normal individuals and this results in high cholesterol in the blood. High blood cholesterol levels can lead to blocked arteries which can cause a heart attack or a stroke.
How do you diagnose FH?
FH can be diagnosed with a lipid profile. Patients with FH build-up up fat under the surface of the skin which is called xanthomas. These cholesterol deposits can be found around your eyes, heels, or elbows. Figure 1 depics some images of xanthomas of Sri Lankan patients. A medical practitioner may suspect FH in a patient if their lipid profile has high LDL>190mg/dl, other members of their family have a history of premature heart disease or stroke, or other members of their family have been diagnosed with FH. The diagnosis of FH can also be confirmed by a genetic test.
How is FH treated?
The mainstay of treatment is cholesterol-lowering medicine including statins. Lifestyle modification including a healthy diet, and adequate physical exercise also plays a vital role.
Conclusion
FH is an important medical condition to diagnose. It needs to be treated properly to minimize complications.
If you think you have FH and would like further details please contact lipidnetworksrilanka@gmail.com .
Figure 1
(The writer is a Consultant Physician and Senior Lecturer, Department of Medicine, University of Sri Jayewardenepura)
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