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Hypertriglyceridemia thalassemia syndrome.

Jain M1, Ali W2, Singh BB2, Verma N3, Kumar A2.

Abstract

BACKGROUND:

Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link.

CASE PRESENTATION:

We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made.

CONCLUSIONS:

The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.