SNP Shot: Genomic Insights

Familial hypobetalipoproteinemia (FHBL) is a condition that disrupts how the body handles fats, making it difficult to both absorb and move them around. A key feature of FHBL is unusually low levels of cholesterol, a fat-like substance, in the blood. The impact of FHBL varies considerably. Some individuals experience only minor issues with fat absorption and display no noticeable symptoms. Others develop hepatic steatosis, also known as fatty liver, where fats accumulate abnormally in the liver. In more serious cases, fatty liver can worsen into chronic liver disease, specifically cirrhosis. Individuals with severe FHBL struggle significantly with absorbing fats and fat-soluble vitamins, like vitamins E and A. This malabsorption leads to steatorrhea, characterized by excess fat in the stool. In children, these digestive issues can impede normal growth and weight gain, leading to failure to thrive.

Inheritance:

FHBL follows an autosomal codominant inheritance pattern. This means that both copies of the responsible gene, one from each parent, are active and influence the resulting trait. In the case of FHBL, having a change (mutation) in just one copy of the APOB gene in each cell can lead to the condition. However, having mutations in both copies of the gene typically results in more severe health complications.