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Fatty liver in Familial Hyperlipidemia

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Clinical Problem:

Ira Shah
Consultant in Pediatric Infectious Diseases and Pediatric Hepatology, Nanavati Hospital and Incharge Pediatric HIV, TB and Liver Clinics, B J Wadia Hospital for Children, Mumbai, India.

Address for Correspondence: Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {W}, Mumbai 400056.

A 2 years old girl presented with fever for 3 days. Father had hypercholesterolemia with multiple xanthomas, mother was on thyroid supplements. Child was detected to have atrial septal defect {ASD} in her infancy but was not any medications for same. Her diet was predominantly vegetarian. On examination, weight was 10 kg, height was 8.8 cms. She had hepatosplenomegaly. Other systems were normal. Her investigations are depicted in Table 1. Ultrasound of abdomen showed hepatomegaly with bright echotexture. In view of liver dysfunction and father having hypercholesterolemia, a lipid profile was done that showed increased cholesterol. She was treated with dietary modification and after one month her serum cholesterol normalized to 138 mg, dL, HDL cholesterol increased to 34 mg, dL and LDL cholesterol normalized to 73 mg, dL. Her liver enzymes also started decreasing {SGOT = 62 IU, L, SGPT = 82 IU, L} and hepatomegaly regressed.

Is this non-alcoholic fatty liver disease {NAFLD} or NASH_? What is its treatment_?

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