Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's ability to absorb and transport fats. This condition is characterized by low levels of a fat-like substance called cholesterol in the blood. The severity of signs and symptoms experienced by people with FHBL vary widely. The most mildly affected individuals have few problems with absorbing fats from the diet and no related signs and symptoms. Many individuals with FHBL develop an abnormal buildup of fats in the liver called hepatic steatosis or fatty liver. In more severely affected individuals, fatty liver may progress to chronic liver disease (cirrhosis). Individuals with severe FHBL have greater difficulty absorbing fats as well as fat-soluble vitamins such as vitamin E and vitamin A. This difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In childhood, these digestive problems can result in an inability to grow or gain weight at the expected rate (failure to thrive).
Most cases of FHBL are caused by mutations in the APOB gene. This gene provides instructions for making two versions of the apolipoprotein B protein: a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. Both of these proteins are components of lipoproteins, which transport fats and cholesterol in the blood.
FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals.
This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cause more severe health problems.
John Burnett is in Perth, Australia. Burnett is rated as an Elite expert by MediFind in the treatment of Familial Hypobetalipoproteinemia. He is also highly rated in 18 other conditions, according to our data. His top areas of expertise are Familial Hypobetalipoproteinemia, Hypolipoproteinemia, Protein Deficiency, and Abetalipoproteinemia.
Amanda Hooper is in Perth, Australia. Hooper is rated as an Elite expert by MediFind in the treatment of Familial Hypobetalipoproteinemia. She is also highly rated in 17 other conditions, according to our data. Her top areas of expertise are Hypolipoproteinemia, Familial Hypobetalipoproteinemia, High Cholesterol, and Abetalipoproteinemia.
Patrizia Tarugi is in Modena, Italy. Tarugi is rated as an Elite expert by MediFind in the treatment of Familial Hypobetalipoproteinemia. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are Familial Hypobetalipoproteinemia, Hypolipoproteinemia, Abetalipoproteinemia, and Protein Deficiency.
Published Date:updated Last, August
Published By: National Institutes of Health