Diagnostic Dilemma

Familial Hypercholesterolemia

Author: Pediatric Oncall
A 2-year-old girl born of non-consanguineous marriage presented with abdominal distension and jaundice for 3 days. There was no history of previous jaundice or blood transfusion, and the child had no fever at present. She was diagnosed to have an atrial septal defect but was not on any medications. There was no bleeding, altered sensorium, or rash. She did not suffer from any illness in past. Father had multiple lipomas and was on treatment for high cholesterol. Mother was on thyroxine supplements for hypothyroidism. There was no family history of strokes, cardiac ischemia, hypertension, or sudden deaths. Milestones and immunization were normal. The child was on a full vegetarian diet. On examination, weight was 10 kg and height was 92 cm. She had jaundice, and tender, soft hepatomegaly. There were no lipomas and other systems were normal. Investigations showed hemoglobin of 11.3 gm/dl, white cell count of 10,100/cumm, and platelet count of 4,43,000/cumm. Serum bilirubin was 3.2 gm/dl (direct = 2.2 gm/dl), SGOT was 105 IU/L, SGPT = 165 IU/L, alkaline phosphatase = 631 IU/L (Normal = 80 to 180 IU/L) and GGTP was 38 IU/L (Normal = 9 to 36 IU/L). Total proteins were 7 gm/dl with albumin of 3.4 gm/dl. Prothrombin Time (PT) was 10.1 seconds and Partial thromboplastin time (PTT) was 26.9 seconds. Lipid profile showed elevated cholesterol in both patient and father (Table 1). The child was treated with cholestyramine for 1 month. A repeat bilirubin was normal and SGOT was 62 IU/L and SGPT was 165 IU/L. Lipid profile showed normal cholesterol (Table 1) and a decrease in Cholesterol: HDL ratio.

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