Welcome to the NORD Physician Guide to Lipoprotein Lipase Deficiency (LPLD). The NORD Online Physician Guides are written for physicians by physicians with expertise on specific rare disorders. This guide was reviewed by John JP Kastelein, MD, PhD, Department of Vascular Medicine, Academic Medical Center, University of Amsterdam (see acknowledgements for additional information).
NORD is a nonprofit organization representing all patients and families affected by rare diseases. The information NORD provides to medical professionals is intended to facilitate timely diagnosis and treatment for patients.
LPLD is an inherited disorder of triglyceride metabolism characterized by pronounced accumulation of chylomicrons and triglycerides in the plasma, severe abdominal pain, hepatosplenomegaly, and eruptive xanthomas.
LPLD is usually diagnosed by 10 years of age but some patients do not present until adulthood.
Diagnosis of LPLD is determined by an enzyme-linked immunosorbent assay that shows reduced activity of lipoprotein lipase in the plasma.
The mainstay of treatment for LPLD is restriction of dietary fat intake to reduce chylomicronemia and hypertriglyceridemia. Gene therapy with Glybera has been approved by the European Commission but has not yet been approved by the FDA.
There is a report on the following related topic in NORD’s online Rare Disease Database for patients, families and the public at: