What Is Homozygous Familial Hypercholesterolemia?

Homozygous Familial Hypercholesterolemia (HoFH) is a rare but serious genetic condition that leads to aggressive and premature heart disease, heart attacks, and strokes in patients as young as teenagers.

What Does HoFH Do To the Body?

HoFH compromises the liver’s ability to remove low density lipoproteins, commonly known as LDL or “bad” cholesterol. Because their livers do not function properly, people with HoFH have dangerously high levels of LDL. These high LDL levels, if untreated, can cause aggressive narrowing and blocking of the blood vessels even before birth, which progresses rapidly, triggering serious cardiac issues for patients much earlier in life than the general population. According to the National Institutes of Health, patients with Homozygous Familial Hypercholesterolemia have LDL cholesterol levels three to six times higher than normal.

How is Having HoFH Different Than Having High Cholesterol?

Individuals with HoFH face a much more intensive challenge to managing their condition than the average person with high cholesterol.  For many people without HoFH, high cholesterol is the result of smoking, being overweight, poor nutrition, and/or a lack of exercise. Basic lifestyle changes such as quitting smoking, losing weight, eating a heart healthy diet and increasing physical activity are often enough to bring their cholesterol readings down to the acceptable range. For HoFH patients, these steps are important but are not enough. HoFH is in their genes and requires medication, and sometimes other interventions, to reduce their risk of a serious or fatal cardiac incident.

How Is Homozygous Familial Hypercholesterolemia Inherited?

HoFH is the more serious form of Familial Hypercholesterolemia (FH). FH is an autosomal dominant genetic disorder, meaning that only one parent needs to have the condition for his or her children to inherit it. Those with one parent with FH have a 50 percent chance of obtaining FH. This case is referred to as heterozygous FH (HeFH). If both parents have FH, their children have a 25 percent chance of having FH, also called Homozygous Familial Hypercholesterolemia, in which the child receives an abnormal gene from each parent.

What Are the Symptoms of HoFH?

Homozygous Familial Hypercholesterolemia is often overlooked or undiagnosed, so it is important to be aware of any family history of high cholesterol and early heart disease or heart attacks at a young age. If a family has a pattern of heart attacks or heart disease in men before age 55 or in women before age 65, the American Academy of Pediatrics (AAP) recommends that children in that family should undergo cholesterol testing as early as age two, and before age 10. Moreover, the National Heart, Lung, and Blood Institute (NHLBI) and the AAP recommend universal cholesterol testing for all children between the ages of 9 and 11 (and again between the ages of 17 and 21).

A small percentage of HoFH patients may exhibit visible signs of FH. These include signs include bumps or lumps in the skin (usually around the knuckles, elbows, and knees) which are deposits of excess fat, a swollen Achilles tendon, or a white arc or ring near the colored part of the eye.

If you have family history or display any of these symptoms, it is important to speak with an FH Specialist as soon as possible in order to receive adequate medical treatment. Early treatment is essential to combating a disorder as aggressive as HoFH.

The FH Foundation is a patient-centered non-profit organization dedicated to education, advocacy, raising awareness, and research of Familial Hypercholesterolemia. Contact the FH Foundation at https://thefhfoundation.org/contact-us to learn more about homozygous familial hypercholesterolemiaand ways to help spread awareness about the disorder.

2 Responses to “What Is Homozygous Familial Hypercholesterolemia?”

  1. Homozy whaaatttttt? | the dance we do

    […] Source: http://thefhfoundation.org/homozygous-familial-hypercholesterolemia/ […]

  2. Beth D. Lucas

    I did not know my official diagnosis until my current internist enlightened me. Thankfully I somehow got approved for monetary help with Repatha which my internist had gotten for me for free from the company when they were seeking FDA approval. However, I could never get approved through the company for help. The way it happened is I saw a post from the Patient Advocate Foundation that they were accepting applications for persons with this diagnosis. I showed it to my internist to be certain that is my diagnosis and he confirmed it is. I called the PAF and got the nicest lady on the phone who said she could mail me an application….and THEN asked if I would like to apply on the phone. So I answered her questions, she told me I qualified and I was approved right then. I was shocked, delighted, was praising the Lord and my internist and cardiologist were so happy as well. There’s lots more I could tell you but this is already so long that I will end it here.


Leave a Reply