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1.

Hyperlipoproteinemia, type I

Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. Clearance of chylomicrons from the plasma is impaired, causing triglycerides to accumulate in plasma and the plasma to have a milky (lactescent or lipemic) appearance. Symptoms usually resolve with restriction of total dietary fat to =20 g/day. [from GeneReviews]

MedGen UID:
7352
Concept ID:
C0023817
Disease or Syndrome
2.

Lactescent serum

Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. [from HPO]

MedGen UID:
1377499
Concept ID:
C1096710
Finding

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