jueves, 12 de diciembre de 2019

Familial hypobetalipoproteinemia - Genetics Home Reference - NIH

Familial hypobetalipoproteinemia - Genetics Home Reference - NIH

Genetics Home Reference, Your Guide to Understanding Genetic Conditions



12/10/2019 11:30 PM EST


Source: National Library of Medicine - From the National Institutes of Health
Related MedlinePlus Pages: Lipid Metabolism Disorders



Familial hypobetalipoproteinemia

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).

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