—We followed the clinical course of four patients with type I hyperlipidemia from two kindreds who presented at an early age.
—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.
—Although each sibling pair possesses the same lipoprotein lipase gene defect and resides in a similar environment, significant differences in stature are apparent.
—Specific structural defects in the lipoprotein lipase gene alone do not define phenotypic presentation. However, severity of clinical presentation may influence future growth characteristics.(AJDC. 1993;147:60-62)