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Type I Hyperlipoproteinaemia and Recurrent Scrotal Pain
Author(s) -
Simons L. A.,
Grigor W.,
Martin H. C. O.,
Gibson J. C.,
Gunn A. P.
Publication year - 1980
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1980.tb04082.x
Subject(s) - hepatosplenomegaly , medicine , plasma lipoprotein , lipoprotein lipase , endocrinology , triglyceride , heparin , lipoprotein , cholesterol , disease , adipose tissue
Summary: A three‐year‐old boy is described with type I hyperlipoproteinaemia in association with recurrent scrotal pain and hepatosplenomegaly. His parents are consanguinous and it is likely that he is homozygous for an autosomal recessive trait, characterised by the absence of plasma lipoprotein lipase following intravenous injection of heparin. Studies have been performed in a number of first degree relatives, but the findings are inconclusive. He has responded well to a low fat diet with dramatic reductions in elevated plasma triglyceride concentrations.