Summary
Familial hypobetalipoproteinaemia (FHBL) is an autosomal co-dominant hereditary disorder of lipoprotein metabolism characterized by decreased low density lipoprotein (LDL) cholesterol and apolipoprotein B (APOB) plasma levels. The diagnosis can be made based on typical changes of lipids in patient’s plasma and finding similar defect within the first-degree relatives.
A 42-year-old man was admitted to the family doctor, complaining of headache. No other pathological symptoms were observed. The patient denied any recent changes in diet or lifestyle as well as using supplements or drugs. Low levels of total cholesterol, LDL-cholesterol and triglycerides were found in serum along with the hepatic steatosis in the USG. Heterozygotes for familial hypobetalipoproteinaemia are often asymptomatic and hepatic steatosis is the only clinical symptom. In homozygous familial hypobetalipoproteinaemia fat-soluble vitamin deficiency is found and an early treatment with high oral doses of vitamin A and E can reduce the potential severity of neuropathy and retinopathy. Hepatic steatosis is a common occurrence, however the long-term consequences are unknown.