Familial Hypercholesterolemia - Causes, Symptoms, Diagnosis, Prevention and Treatment

Familial Hypercholesterolemia: Genetic Disorder

Dr.Atul Biniwale profile Authored by Dr.Atul Biniwale on 29 Dec 2014 - 09:31.

Familial hypercholesterolemia (FHC) is a common genetic disorder that may be in the family causing elevated levels of blood cholesterol, especially low density lipoprotein (LDL). High levels of total blood cholesterol dramatically increase the risk of developing heart diseases, especially coronary heart diseases. It is a rare condition affecting almost 0.2 percent population around the globe. 

FHC is caused due to alterations in the gene representing LDL receptor protein. This further causes lack of LDL receptors, leading to reduced consumption of cholesterol from the blood, thereby causing its accumulation in the blood. It may be inherited from either one (causing mild symptoms) or both the parents (causing severe condition like a heart attack at a very young age).

High levels of cholesterol lead to hardening of arteries (atherosclerosis) which may result in various heart diseases, including angina, coronary heart diseases, heart attack, stroke, etc.

It may also lead to:

  • Painful tendons, causing Achilles Tendon
  • Accumulation of fatty material under skin (Xanthomas) especially on elbows, knees, feet, and so on.
  • Accumulation of fatty deposits on eyelids (Xanthelasmas) and cornea (Corneal Arcus)
  • Murmur of aortic stenosis
  • Increased risk of a life threatening eventafter adulthood (beyond 30 years old)

Early diagnosis is essential for better life expectancy and treatment outcomes. Screening is often recommended between the ages of 9 to 11 years and not later than 20 years of age.

Initial diagnosis of homozygous and heterozygous FHC involves detection of significantly elevated LDLc levels (>330 mg/dL in adult and > 250 mg/dL in child) and absence of secondary cause for hypercholesterolemia. Further screening for FHC may include several tests and laboratory examinations. These may include following:

  • Physical examination: To look for visible signs (like Xanthomas and corneal Arcus) and to note symptoms experienced.
  • Assessment of medical history: To look for FHC running through families.
  • Blood tests: To look for elevated levels of cholesterol.
  • Heart function test: To check of abnormality in heart function.
  • Test for altered gene: To detect the altered gene causing FHC.

Further findings in FHC patients may include:

  • Tendon Xanthomas (more than 95th percentile)
  • Abnormal electrophoresis
  • Abnormal stress test

Risk of developing FHC is higher if any one of the parent has altered gene (Homozygous FHC) representing LDL receptor. The risk is doubled if both parents have this mutated gene (Heterozygous FHC).

When to see a doctor?

Keep frequent track on your health if you have a family history of FHC. Visit your doctor immediately in case of intense and progressively increasing chest pain and some other warning signs of heart attack.

The treatment may be required throughout his/ her life once FHC is diagnosed to prevent further severe complications. FHC demands early and effective treatment approaches to prevent hardening of the arteries and reduce the risk of heart diseases.

Treating Homozygous (acquired from one parent) FHC:

Approaches to treat homozygous FHC may include several medicines, lifestyle changes and some more alternative treatments.

Drugs and medicines: Experts often prescribe cholesterol lowering drugs like statinsor any other medications (including Ezetimibe, Fibrates, Nicotinic acid, etc.) which ultimately work to minimize the risk of severe heart diseases and life threatening events. These medicines offer significant result when taken as “add on” to diet and exercise intervention.

Hormone Replacement Therapy: In post menopausal women estrogen replacement therapy may offer benefits.

Treating Heterozygous (acquired from both parents) FHC:

If one acquires FHC from both the parents, he/ she may require some additional treatments with cholesterol lowering drugs. These may include:

Filtering LDL from blood: A procedure called Apheresis using special device may help to reduce the blood cholesterol level.

Liver transplant: Damaged liver can be replaced with some portion of healthy liver from matching donor, especially in severe cases.

Lifestyle intervention: The following recommendations may help one to cope with FHC:

  • Regular exercise (as recommended by your doctor)
  • Avoiding smoking or chewing tobacco
  • Maintaining a healthy weight
  • Keeping track of blood pressure and blood sugar levels
  • Preferring low-fat and low-cholesterol diet
  • Managing stress

Alternative medicines:

Ayurveda for lowering blood cholesterol: The following interventions may help to control and maintain adequate levels of blood cholesterol.

  • Consuming boiled water prepared by adding 2 tbs of coriander seed, two times a day.
  • Having marketed preparation of Guggulu (CommiphoraMukul), as directed
  • Taking cloves and garlic with main meal
  • Consuming marketed preparation of Arjun (Terminalia arjuna), available in capsule form.

Homeopathy: Homeopathic preparations, includingCurcuma,FelTauri, Nux vomica, Chelidonium,  Berberis,  Veratum album,  Cholesterinum, Arsenicum album and Psorinum may be helpful in obtaining optimum levels of blood cholesterol.

Diet recommendations:

Prefer food like:

  • Fiber rich foods (cabbage, berries, green vegetables, squash, beans, mushrooms, and oranges). 
  • Oats
  • Almonds, walnuts and other nuts
  • Fish (Omega-3 fatty acids )
  • Foods rich in antioxidants (vitamin C, E)or supplements
  • Foods rich in beta-carotene like pumpkin, carrots, broccoli and spinach
  • Green tea
  • Drink plenty of water (at least 7-8 glasses daily)
  • Increase the intake of turmeric and curry leaves while cooking.

Avoid or limit eating:

  • Fatty foods (<30% of total calorie intake)
  • Chicken, lamb and pork
  • Coconut and palm oils
  • Egg yolks.

Physical exercise:

  • Work out almost all week days, half hour a day
  • Brisk walk, swimming, gardening, cycling, sports like tennis, walking stairs, jogging and so on.
  • Avoid over-exertion
  • Start slow and then gradually increase the physical activity (duration as well as intensity)

Benefits: Choosing the right form of exercise helps to lower “bad” cholesterol and raises “good” cholesterol levels.

As it is a genetic disorder, preventive measures may not work and assure prevention of FHC. However, early diagnosis and right approach to manage may help. Health lifestyle and medication may help control FHC.


  • Talk to your doctor about the right exercise and duration for you. Never do it on your own.
  • Take all the medication only after consulting your doctor and strictly follow the dosage as directed. 
*Disclaimer This is not medical advice. The content is for educational purposes only. Please contact your doctor for any health care issues.