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Inborn errors of metabolism

Homozygous familial hypercholesterolemia (HoFH)

An inherited cholesterol disease. Bad cholesterol in the blood is very high from childhood. Disease of the blood vessels and heart can begin at a young age.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Inborn errors of metabolism” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The liver collects the bad cholesterol, called LDL, from the blood using special receptors. In this disease, the person inherits a faulty gene from both the mother and the father. The receptors work very little or not at all. Bad cholesterol builds up in the blood and sticks to the walls of the blood vessels.

Which symptoms can occur?

Signs usually begin in childhood.

  • Very high LDL cholesterol in the blood
  • Yellow bumps on the skin and tendons, called xanthomas
  • A gray-white ring around the colored part of the eye
  • Early narrowing of the heart's blood vessels
  • Chest pain and a risk of early heart attack
  • Narrowing of the aortic valve (common)

How is it diagnosed?

Cholesterol is measured in the blood; LDL is found to be very high. Xanthomas on a child's skin point toward the diagnosis. A genetic test confirms the change. The heart and blood vessels are examined with imaging.

Treatment and care

Treatment starts early and is led by a lipid specialist. Cholesterol-lowering treatments are often used together. There are approved treatments specific to the disease. Many people need LDL apheresis, in which the blood is cleaned by a machine. Very rarely, a liver transplant is considered. Healthy eating and a smoke-free life are important. The heart and blood vessels are checked regularly. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

Usually both the mother and the father have familial hypercholesterolemia. In this case, the chance of this severe form is 1 in 4 in each pregnancy. The mother and father should also be diagnosed and treated. It is recommended that the cholesterol of all family members be checked. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Familial hypercholesterolemia · NORD: Homozygous Familial Hypercholesterolemia · Orphanet: Homozygous familial hypercholesterolemia (ORPHA:391665)

Key facts

How common is it?
Prevalence: 1-9 per 1 000 000 (Worldwide)
When does it usually start?
Newborn period
Gene(s) involved
APOB, LDLR, LDLRAP1, PCSK9

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about HoFH

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 10 active interventional studies for this disease. 7 are recruiting now; 3 have sites in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Inborn errors of metabolism: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:391665

No separate ICD-11 code; WHO classifies this disease under: 5C80.00

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.