has material basis in germline mutation in LPL familial hyperlipidemia familial lipoprotein lipase deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/8259 https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency https://www.malacards.org/card/familial_lipoprotein_lipase_deficiency https://www.malacards.org/card/hyperlipoproteinemia_type_i ICD9:272.3 hyperlipoproteinemia, type I lipase D deficiency MONDO:0009387 hyperlipoproteinemia, type 1 NORD:1129 familial lipoprotein lipase deficiency (disorder) [ambiguous] lipd deficiency OMIM:238600 lipoprotein lipase deficiency, familial familial lipoprotein lipase deficiency with type I phenotype hyperlipemia, idiopathic, Burger-Grutz type NCIT:C84771 hyperlipemia, essential familial MESH:D008072 endogenous hypertriglyceridaemia MEDGEN:7352 high density lipoprotein cholesterol level QTL 11 icd11.foundation:1829539217 LPL deficiency lipoprotein lipase deficiency familial fat-induced hypertriglyceridemia GARD:0012241 Burger-Grutz syndrome hyperlipoproteinemia, type 1A hyperlipoproteinemia type I Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. familial hyperchylomicronemia Orphanet:309015 hyperchylomicronemia familial chylomicronemia syndrome chylomicronemia, familial UMLS:C0023817 type I hyperlipoproteinemia DOID:14118 hyperchylomicronemia, familial SCTID:275598004 syndromic dyslipidemia familial chylomicronemia syndrome hyperlipoproteinemia