Familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an inherited condition that affects cholesterol levels in the blood causing them to rise. People with FH have elevated levels of low-density lipoprotein (LDL) also known as bad cholesterol. Higher levels of cholesterol result in an increased risk of heart diseases. Studies indicate that 1 in 200 adults may be affected by FH globally. FH affects 1 in 500 Canadians.

What is FH?

FH is a condition manifested by high levels of LDL in the blood. Being an inherited condition, it is passed on through generations in a family. There are two types of FH. Heterozygous FH and homozygous FH. In Heterozygous FH, you may inherit the faulty gene from one of the parents; however, in homozygous FH you inherit the faulty genes from both the parents, thereby putting you at an increased risk of having a heart attack at an age as early as twenty. While heterozygous FH is common in occurrence, homozygous FH is rare. 

What causes FH?

The mutations in the genes for LDL receptor, PCSK9 genes, or genes for apolipoprotein B are responsible for faulty processing of the bad cholesterol in the body. Having the mutation in any one of these genes may be responsible for FH. You may inherit the faulty genes either from one of your parents or rarely from both.

What are the symptoms of FH?

People who inherit FH face a problem in lipid metabolism due to genetic defects. As a result, their body is unable to process the cholesterol in a normal way. The cholesterol deposits in the arteries thereby narrowing and hardening them. This plaque increases the risk of heart disease. Myocardial infarction and angina are the common manifestations of FH and the occurrence is at an early age. Although there may be no symptoms at an early age, some physical symptoms may be seen in people with FH. The physical symptoms are as follows:

•    Fatty deposits that appear as yellow patches known as xanthomas. These deposits appear on elbows, knees, hands, and ankles.
•    Fatty deposits around the cornea of the eye appear as white, grey, and blue rings.
•    Build of fat deposits on the eyelids
•    Cramps in the calf muscles
•    Sores on the toes that are difficult to heal
•    Drooping on one side of the face, sudden difficulty in speaking, and weakness in the arms or legs
•    Chest pain that suggests angina like symptoms.

Diagnosis of FH

Doctors will diagnose the condition by thoroughly studying your family history. If there is a strong family history of FH, the following tests will help in the accurate diagnosis.

•    Physical examination: Doctors will examine the presence of fatty deposit on the body 
•    Genetic tests: This test will detect the faulty genes responsible for FH 
•    Blood tests: Blood tests will indicate abnormal lipid levels in blood

What is the treatment for FH?

A combination of healthy food choices and medication can successfully treat FH and reduce the risk of heart disease. The following treatment options are available: 
•    Lifestyle modifications:  
•     Go for lean proteins
•     Have low-fat dairy products than full fat-containing dairy
•     Eat fresh fruits and vegetables
•     Prefer olive oil or canola oil over butter for cooking
•     Limit the intake of alcohol
•     Maintain a healthy weight by regular exercise and a healthy diet
•     Avoid sweetened and carbonated drinks
•     Avoid smoking
 

   Medications: 
•     Satins that lower the LDL levels in the blood: simvastatin, rosuvastatin, atorvastatin, lovastatin, and fluvastatin
•     Bile acid sequestrants such as cholestyramine 
•     Other drugs such as nicotinic acid, fibrates, and ezetimibe
•     Newer medicines such as injectable antibodies known as PCSK9 inhibitors are effective.
•    Genetic counseling: In case of strong family history, you may talk to a genetic counselor to know more about the importance of genetic testing. [7]
•    Manage other coexisting health problems such as high blood pressure or diabetes.

Are there any complications associated with FH?

If the condition goes undiagnosed and untreated you may face the following complications:
•    Heart attack at an early age
•    Coronary heart disease
•    Long term deposits of cholesterol in the blood vessels
•    Stroke
•    Death at an early age

Genetic testing makes it possible to have early treatment plans if you are at risk of having FH. Regular screening of cholesterol levels is equally important. Children who are at high risk of FH due to strong family history should undergo testing for cholesterol levels at the age of two years.

FH can be serious and cause atherosclerosis (deposition of cholesterol or plaque in the arteries of the heart) which eventually leads to premature heart attack and even death. Early diagnosis, prompt treatment, and lifestyle changes can significantly reduce the risk.