HYPERTRIGLYCERIDEMIA THALASSEMIA SYNDROME IN AN INFANT PRESENTED WITH ANEMIA

A CASE REPORT

Abstract

INTRODUCTION
Hypertriglyceridemia Thalassemia Syndrome is a rare condition with few reported cases. In here, we reported an interesting case of Hypertriglyceridemia Thalassaemia Syndrome in a young infant presented to our centre.

CASE
A 1-year-old Malay girl presented with poor growth, progressive pallor and lethargy for the past six months. She had no significant family history of blood or lipid disorder. On examination, she is small for her age, pale and icteric. Liver and spleen were palpable 4cm below costal margin respectively. She has no lymphadenopathy or xanthomas. Laboratory investigations showed low haemoglobin level (Hb 7.2 g/dL) but normal platelet count (375 x 109/L), and white cell count (10 x 109/L). She had raised reticulocytes count (11%) and lactate dehydrogenase (LDH 532U/L). Direct coombs test was negative. Peripheral blood smear revealed hypochromic microcytic red blood cells with polychromasia and severe anis poikilocytosis. Her serum was grossly lipidemic after centrifugation. Lipid profile showed raised triglyceride level (TG 9.05 mmol/L) but other lipid parameters are in normal range (total cholesterol 2.85 mmol/L, HDL-c 0.26 mmol/L, LDL -1.25 mmol/L). Her infective status is negative and her thyroid function test is normal. Other acquired causes of hypertriglyceridemia are also excluded. She was transfused with total 40 cc/kg pack cells and her Hb raised to 12 g/dl and no more lipidemic serum sample. Hb analysis revealed HbE- Beta thalassemia. Her mother`s blood showed Hb-E trait with normal lipid profile. She defaulted follow up until 4 months later she presented to our care again with similar presentation.

CONCLUSION
Hypertriglyceridemia thalassemia is rare reported association and regular blood transfusion usually resolved the high TG level. Early recognition is essential to deal with complications such as acute pancreatitis or increased coronary risk.