Hypobetalipoproteinemia

Hypobetalipoproteinemia (HBL) is a condition where the body has very low levels of certain fats and proteins in the blood — specifically a type called apolipoprotein B (apoB) and LDL cholesterol (often called 'bad cholesterol'). While high LDL is usually the concern, having levels that are too low can also cause serious health problems. This condition is sometimes called familial hypobetalipoproteinemia (FHBL) when it runs in families. The disease affects how the body absorbs and moves fats and fat-soluble vitamins (A, D, E, and K) through the bloodstream. Without enough of these vitamins, the body can develop problems in the nervous system, eyes, liver, and muscles over time. The liver may also accumulate fat, leading to a condition called fatty liver disease. Many people with mild forms have no symptoms at all and are only discovered through routine blood tests. However, those with more severe forms — especially a related condition called abetalipoproteinemia — can experience muscle weakness, balance problems, vision loss, and developmental delays. Treatment focuses on high-dose fat-soluble vitamin supplements to prevent complications. With early diagnosis and proper supplementation, many people can live relatively normal lives.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.Which form of hypobetalipoproteinemia do I have, and how severe is it?,Which vitamins do I need to take, and at what doses?,How often should I have blood tests to monitor my vitamin levels and liver health?,Are my family members at risk, and should they be tested?,What dietary changes do I need to make, and can I see a dietitian?,What symptoms should prompt me to seek emergency care?,Are there any clinical trials or new treatments I should know about?

Common questions about Hypobetalipoproteinemia