gms | German Medical Science

Hereditary lipid metabolism disorders can cause severe cardiac (arteriosclerosis) and abdominal (pancreatitis) complications. Eyelid lesions and (in severe cases) lipemia retinalis have been described as early ocular manifestations.

A 4 week old boy with abdominal complaints was admitted to the pediatric department. The ophthalmologic examination showed milky white vessels of the iris and retina (lipemia retinalis grade III). The blood sample was milky colored and revealed markedly elevated serum triglycerides (31240mg/dL, 356,1mmol/L) and serum cholesterol (1520mg/dL, 39,2mmol/L).

A lipoprotein lipase defect could be confirmed (missing activity of the enzyme after release from the endothelium by herparin administration). Diabetes mellitus and apoprotein C-II deficiency could be ruled out. Similar findings in a cousin suggest a hereditary genetic defect. Dietary fat restriction and a dietary supplement containing medium-chain-triglycerides (MCT) resulted in a decline of the serum lipids and a resolution of the ocular abnormailties.

The various types of primary hyperlipoproteinemia are rare in childhood. An early diagnosis and treatment is advised to avoid severe systemic complications. Knowledge of the ocular abnormalities in disorders of lipid metabolism should help the ophthalmologist correlate his findings with systemic pathology and give precise recommendations for further diagnostic procedures and therapy. Up to now, there are only few reports about iris manifestations in the literature in contrast to the well-established association of lipemia retinalis, retinal vascular occlusion, corneal arcus lipoides and eyelid changes with hyperlipoproteinemia.