Ghulam Mustafa, Pervez Akber Khan, Muhammad Azam, Waqar Rabbani, Qamar Ali.
Hypertriglyceridemia in pediatrics.
J Coll Physicians Surg Pak Jan ;13(1):57-8.

A 12-year-old boy was referred for evaluation of pallor since infancy. When 2 years, he was diagnosed as thalassemia major because of pallor, hemolytic red blood cell morphology and markedly raised fetal hemoglobin (58% as assessed with Betke`s method of hemoglobin estimation). He was transfused twice per year till he was 4 years of age and then only recently at 12 years. The boy also had recurrent diarrhea with malabsorptive stools and episodic itching for the last 6 years. He frequently had nocturnal enuresis and was slow to learn. He never had periorbital swelling, dysuria or burning micturation. He was born prematurely (28 weeks) to consanguine parents and there was mild delay in the development. On examination the boy was pale with anthropometric measurement (height, weight, and occipito-frontal circumference) below 3rd centile but frontal bossing, maxillary prominence or depressed bridge of the nose were not very significant. The liver and spleen were only 1 cm palpable below costal margins. Being in doubt, about the diagnosis of the thalassemia major, the hemoglobin electrophoresis was asked from Aga Khan Laboratories, Karachi and it was normal (Hemoglobin A1 – 98.1% and Hemoglobin A2 – 1.9%). Incidentally we noticed that blood turned diffusely milky on standing. Suspecting hyperlipidemia, we re-examined the boy. The xanthomas, corneal arcus and tonsillar hypertrophy were absent. The parents were non-diabetic, normotensive and non-smoker. Laboratory investigations showed reticulocytosis with decreased hemoglobin. The urine report, renal parameters and liver function tests showed nothing abnormal. The total lipids were 3015 mg/dl (N=500-1000mg/dl) and triglycerides were 2227 mg/dl (N=46-236mg/dl). The cholesterol and low-density lipoproteins (LDL) were 132 mg/dl (N=160-200mg/dl) and 80 mg/dl (N=100-130mg/dl), respectively. The high-density lipoproteins (HDL) were 12 mg/dl (N=35). The low HDL to this extent has only been reported with LCAT deficiency and Tangier`s disease. The absence of large yellowish tonsils in this child ruled out the Tangier`s disease. Keeping in view the clinical picture, red blood cell morphology of hemolytic anemia with markedly increased serum triglycerides and markedly decreased high-density lipoproteins, we made the diagnosis of lecithin cholesterol acyltransferase deficiency in this boy. Since the enzyme level are not possible in our circumstances so it is more of a diagnosis of exclusion. The child was advised low fat diet and unsaturated oils.

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