Apolipoprotein B deficiency disease, also known as familial hypobetalipoproteinemia (FHBL), is a rare genetic disorder characterized by low levels of apolipoprotein B (apoB) in the blood. ApoB is a protein that plays a vital role in the transportation of fats, including cholesterol and triglycerides, from the liver to various tissues throughout the body. It is an essential component of lipoproteins such as low-density lipoprotein (LDL) and very low-density lipoprotein (VLDL).
Individuals with apolipoprotein B deficiency disease have a reduced ability to produce or secrete apoB-containing lipoproteins, leading to significantly low levels of LDL cholesterol and total cholesterol in the blood. This condition is typically inherited in an autosomal codominant manner, meaning that individuals with one copy of the mutated gene may have lower cholesterol levels, while individuals with two copies of the mutated gene may have extremely low cholesterol levels.
Symptoms of apolipoprotein B deficiency disease may include fatty liver disease, malabsorption of dietary fats, vitamin deficiencies, and, in severe cases, neurological disorders. However, many affected individuals may remain asymptomatic and only discover their condition through routine blood tests.
Treatment options for apolipoprotein B deficiency disease primarily aim to control associated symptoms and prevent complications. This may include dietary modifications, supplementation with fat-soluble vitamins, and regular monitoring of liver function and lipid levels.
In conclusion, apolipoprotein B deficiency disease is a rare genetic disorder characterized by low levels of apoB and a consequent reduction in cholesterol-carrying lipoproteins.
