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Familial Hypercholesterolemia

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Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. It causes severe elevations in total cholesterol and low density lipoprotein cholesterol (LDL), that is, bad cholesterol.

Overview: Familial Hypercholesterolemia

FH is an inherited condition that occurs at birth. The high levels of cholesterol put one at risk of cardiac problems at a young age. Cholesterol is a fat-like substance that is present in the cells of the body. It is needed by the body to make hormones, vitamin D as well as to make certain chemicals that help with food digestion. However, too much cholesterol in the blood can lead to its build up within the walls of the arteries. This leads to the formation of plaque, that causes a reduction or blockage of blood supply. Thus, leading to increase in the risk of heart disease.

FH is inherited in an autosomal dominant fashion. This means, a parent who carries the gene can pass on that gene to his/her children in a 1 in 2 chance (50% chances of the child getting an altered gene).

Symptoms of Familial Hypercholesterolemia

The main symptoms of familial hypercholesterolemia cannot be felt like one experiences cold and flu. These symptoms more or less indicate presence of FH. They include:

  • Presence of xanthomas, that is, fatty deposits around the elbows, buttocks, knees, tendons
  • Xanthelasmas, that is, presence of cholesterol deposits around the eyelids
  • Corneal arcus, that is, observation of cholesterol deposits around the corneas
  • Heart diseases leading to anginas
  • High levels of total cholesterol and LDL cholesterol in blood
  • Family history of familial hypercholesterolemia or high levels of total cholesterol or early heart attacks

Causes of Familial Hypercholesterolemia

FH is a genetic disorder, where chromosome 19 develops certain mutations. As this is an autosomal disorder, one parent carrying the gene can pass on the condition to the child. When both parents are carriers, the condition is more severe and can lead to death before the age of 30 due to heart ailments.

Diagnosis of Familial Hypercolesterolemia

The doctor will conduct a physical examination to check for presence of any fatty deposits or lesions on the body. A personal as well as family medical history will be taken for more information.

The doctor will also order blood tests that help in understanding the level of cholesterol in the blood. Levels of cholesterol in the blood indicate FH:

Level of Total Cholesterol:

In children – More than 250 mg/dL

In adults – More than 300 mg/dL

Level of LDL Cholesterol:

In children – More than 170-200 mg/dL

In adults – More than 220 mg/dL

On the basis of the above test result, the doctor will order a mutation analysis test. This will help in the detection of the condition. Also, those without mutations have very high triglyceride levels, indicating their condition is a result of other conditions.

Treatment for Familial Hypercholesterolemia

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FH is usually managed with medications and a change in diet. The total amount of fat in the diet is reduced to about 30% of the total daily calories. Thus, one needs to avoid beef, pork, mutton, butter, whole milk, cheese, egg yolk, oils like coconut and palm oil, saturated fats like ghee, from their diet.

Medications like statins, bile acid-sequestering resins, nicotinic acid, fibrates, etc. will be prescribed to lower total as well as LDL cholesterol.

Those with weight issues, need to lose weight and exercise to reduce cholesterol levels.

Complications of Familial Hypercholesterolemia

FH increases one’s risk of developing heart attack, heart diseases as well as stroke at a very early age.

Prognosis of Familial Hypercholesterolemia

The prognosis depends on the management and lifestyle modification each individual undertakes. This can help reduce the risk of heart attack greatly. Men with this condition can suffer from heart attacks in their 40s and 50s. Women may suffer a heart attack in their 50s or 60s. however, those with two copies of mutated genes may suffer from a fatal heart attack before the age of 30.

Familial hypercholesterolemia is a genetic condition. Thus, one should undergo genetic counselling before they plan a family. Make sure you follow a strict diet, do not smoke and take medications on time to prevent heart attacks and live a long healthy life with familial hypercholesterolemia.

Written by: Saptakee sengupta
Date last updated: April 01, 2015