The LPLDA Patient Registry is collecting information about lipoprotein lipase deficiency (LPLD), also known as familial lipoprotein lipase deficiency, LPL deficiency, and hyperlipoproteinemia type 1. The LPLDA Patient Registry will include individuals (adults and minors) who have a diagnosis of LPLD, chylomicronemia syndrome, lipemia, lipoproteinemia, and familial fat-induced hypertriglyceridemia. It will also include symptoms of acute pancreatitis, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis, and other related conditions. The diagnosis must be confirmed by a physician, usually with a positive DNA diagnosis or a positive clinical diagnosis.
Data collected will cover the following topics: demographics, diagnosis and treatment, medical history, triglyceride levels, genetics, mood, digestive issues, physician care and clinical trial history. Please contact firstname.lastname@example.org or phone (203) 744-0100 and ask for the LPL Deficiency Association™ if you are interested in using the LPLDA Patient Registry for a research project, or if you have any questions.