Dietary treatment and growth of hyperchylomicronemic children severely restricted in dietary fat
D. M. Black and D. L. Sprecher
C. S. Mott Children's Hospital, University of Michigan, Ann Arbor 48109.
OBJECTIVE--We followed the clinical course of four patients with type I
hyperlipidemia from two kindreds who presented at an early age.
PATIENTS--Two propositi presented with severe abdominal pain and bloody
diarrhea at 8 and 10 weeks of age. They also exhibited delayed growth. We
compared their course with that of two siblings (one sibling of each
proband) who also have familial hyperchylomicronemia but were diagnosed and
have subsequently shown normal growth. MAIN RESULTS--Although each sibling
pair possesses the same lipoprotein lipase gene defect and resides in a
similar environment, significant differences in stature are apparent.
CONCLUSION--Specific structural defects in the lipoprotein lipase gene
alone do not define phenotypic presentation. However, severity of clinical
presentation may influence future growth characteristics.
