Severe hypertriglyceridemia in an infant with red cell pyruvate kinase deficiency.
Severe hypertriglyceridemia has been observed in infants with beta-thalassemia major, an association termed hypertriglyceridemia-thalassemia syndrome. The pathophysiological basis for this association has remained unclear. We describe 6-month-old American girl with red cell pyruvate kinase (PK) deficiency, failure to thrive, and marked hypertriglyceridemia (=1500 mg/dL). The hyperlipidemia resolved with hypertransfusion therapy. At age 18 months she underwent a splenectomy and has remained transfusion-independent with normal serum triglyceride levels. We suggest that severe hemolysis and chronic wasting are probably responsible for the hypertriglyceridemia seen in infants with thalassemia or PK deficiency.
Rao
Aarati
A
Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.
Hulbert
Monica
M
Wilson
David B
DB
D000745:Anemia, Hemolytic, Congenital / Q000150:complications*; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D015228:Hypertriglyceridemia / Q000209:etiology / Q000503:physiopathology*; D007223:Infant; D009154:Mutation; D011770:Pyruvate Kinase / Q000172:deficiency*; D012307:Risk Factors; D013577:Syndrome; D017086:beta-Thalassemia / Q000150:complications*
D011770:Pyruvate Kinase