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Familial Hypercholesterolemia

Authors:
  • Amy Scholten, MPH
Publication Type:

Condition

Familial Hypercholesterolemia

(FH)

Definition

Familial hypercholesterolemia (FH) is a type of high cholesterol. It leads to higher levels of low-density lipoprotein (LDL) cholesterol in the blood. High levels of LDL cholesterol can cause problems, including a higher risk of heart disease.

Causes

FH is caused by a gene problem that is passed from parents to children. It can come from one or both parents. FH can be severe if both parents pass the gene to their child.

The gene problem makes it hard for the liver to remove LDL cholesterol from the blood.

The Liver and Other Organs.

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Risk Factors

A parent will not always pass the gene problem to their child. If one parent has the gene problem, it raises the child's risk of FH. If both parents have the gene problem, the child's risk of FH is even higher.

Symptoms

FH itself does not cause symptoms. But high levels of LDL can lead to:

  • Thick and painful tendons
  • Xanthomas—fatty deposits under the skin
  • Xanthelasmas—fatty deposits on the eyelids
  • Eye problems—due to fatty deposits on the cornea

FH raises the risk of heart and blood vessel disease at a young age. This can lead to:

Diagnosis

The doctor will ask about symptoms and health history. A physical exam and blood tests will be done. To diagnose FH, the doctor will look for:

  • Fatty deposits in skin, tendons, or eyes
  • High cholesterol, especially in a young person
  • Family history of high cholesterol
  • Genetic testing

More tests may be done to rule out other conditions.

Treatment

The goals of treatment are to:

  • Lower LDL levels
  • Lower the risk of problems such as heart disease or stroke

FH will need lifelong treatment. Treatment options include:

Prevention

FH cannot be prevented.

Lifestyle Changes

To help lower cholesterol levels, the doctor may advise:

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • Familial hypercholesterolemia in adults. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/familial-hypercholesterolemia-in-adults.
  • Familial hypercholesterolemia. National Organization of Rare Disorders website. Available at: https://rarediseases.org/rare-diseases/familial-hypercholesterolemia.
  • Soran, H. and Adam, S. Hypercholesterolaemia – practical information for non-specialists. Arch Med Sci, 2018; 14 (1): 1–21.

Contributors

  • Marcin Chwistek, MD
Last Updated:
2022-09-01

(C) Copyright 2023 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.