ScreenPro FH
Screening Project for Familial Hypercholesterolemia
in Central, Southern and Eastern Europe

LPL deficiency

Familial Chylomicronemia

Familial Chylomicronemia (or Type I HLP) occurs either as a lipoprotein lipase deficiency, or an apoC-II deficiency, which is the coenzyme needed to activate the lipoprotein lipase enzyme. It is quite a rare disease (1:1,000,000) characterized by hyperchylomicronemia and extremely high TG levels. CH is increased as well, but only slightly. The clinical picture is dominated by abdominal findings; a high percentage of patients may present with pancreatitis, which could be fatal. Treatment is arduous – for many years, the only possible course of action was a very strict diet. However, case studies now indicate the use of lomitapide as a new option. Recently the gene therpay (glybera – Chiesi) is approved for the treatment.