Familial hypobetalipoproteinemia (FHBL) affects levels of cholesterol. Cholesterol is a type of fat. Fats play an important role in helping our body work properly. Similar to how oil and water do not mix, fats do not mix well with our blood. Proteins called lipoproteins help cholesterol travel through our blood. One type of lipoprotein is LDL, or low-density lipoprotein. Individuals with FHBL have low levels of LDL cholesterol.
FHBL is a rare genetic disorder caused by a change in a certain gene. Our genes are what control the growth, development, and function of our bodies. If a mistake or error occurs in a gene, this is called a mutation. A mutation causes the gene to not work properly. Each person has two copies of every gene, one from each parent. FHBL is passed down from parent to child in an autosomal dominant manner, meaning one mutation from one parent is inherited by a child in order to cause symptoms.
The severity of symptoms of FHBL varies. Some individuals will experience no symptoms. For others, the most common symptom is the buildup of fat in the liver, called a fatty liver. The liver is very important in keeping our blood free of harmful chemicals. If there is too much fat in the liver, it cannot do its job properly. In some cases of FHBL, a fatty liver may develop into permanent damage. This is called cirrhosis of the liver.
FHBL can affect individuals at all ages. FHBL is commonly diagnosed with a blood test. A doctor may also use family history to help make a diagnosis.
Frequently, a doctor will recommend management options to reduce symptoms and slow down development of the condition. This is typically reducing fat in the diet and taking vitamin E supplements. If changing diet does not work, there are medications that are available. If you or a family member has been diagnosed with familial hypobetalipoproteinemia, talk to your doctor about the most current treatment options.
Description Last Updated: Feb 26, 2018