Familial Lipoprotein Lipase Deficiency

Familial lipoprotein lipase deficiency is a rare inherited disorder in which the body lacks an enzyme needed to process certain fats in the blood, causing them to build up at very high levels.

Common causes: it originates from genetic changes that affect the enzyme responsible for breaking down the triglycerides carried in the blood.

Common symptoms: episodes of abdominal pain, fatty deposits visible under the skin and, in some cases, enlargement of the liver or spleen; it is usually detected from an early age.

Which specialist treats it? The endocrinologist addresses disorders of fat metabolism, while the gastroenterologist takes part when there is abdominal involvement. If there is a family history of very high blood fats, it's a good idea to discuss it with a professional for a proper evaluation.