Grand Rounds

Fatty liver in Familial Hyperlipidemia

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.

Clinical Problem :
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.

Table 1. Investigations.
Case 1
Bilirubin (direct) (mg/dL) 0.6
SGOT (IU/L) 105
SGPT (IU/L) 165
Total proteins (gm/dl) 7.0
Albumin (gm/dl) 3.4
Cholesterol [Normal <200 (mg/dL)] 250
HDL Cholesterol [Normal = 35.84 (mg/dL)] 28
VLDL Cholesterol (mg/dL) 18
Triglycerides [Normal = 35 - 160 (mg/dL)] 90
LDL Cholesterol [Normal <130] 204
Father's Cholesterol (mg/dL) 220
        HDL Cholesterol (mg/dL) 38
        VLDL Cholesterol (mg/dL) 40
        Triglycerides (mg/dL) 40
        LDL Cholesterol (mg/dL) 174
Mother's Cholesterol (mg/dL) 170
        HDL Cholesterol (mg/dL) 80
        VLDL Cholesterol (mg/dL) 17
        Triglycerides (mg/dL) 85
        LDL Cholesterol (mg/dL) 123

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

Discussion :
Non Alcoholic Fatty Liver Disease {NAFLD} is a common clinicopathological condition characterized by significant lipid deposition in hepatocytes of the liver parenchyma, in the absence of alcohol induced liver injury. NAFLD comprises a wide spectrum of liver damage, ranging from simple microvesicular steatosis to steatohepatitis, advanced fibrosis and cirrhosis. {1} The term non-alcoholic steatohepatitis {NASH} is used to describe the progressive forms of NAFLD with degenerative changes and fibrosis. {2} Childhood obesity is the commonest cause of NAFLD and NASH. Familial hyperlipidemia can also lead to NAFLD as was seen in our patient. There is no consensus on the treatment of NAFLD. However in cases of hyperlipidemia, it is imperative to control the serum cholesterol and triglycerides through diet, exercise and lipid lowering agents. Rational strategies aim to reduce insulin resistance, oxidative stress and other factors involved in the etiopathogenesis. As it is mostly associated with obesity, first line management is weight loss achieved through diet and exercise. The role of vitamin E is being evaluated, since as an antioxidant it may slow the progression of simple steatosis to NASH. The role of metformin has been evaluated in an open label pilot study of children with proven NASH, and was found to show a significant improvement in the ALT and hepatic steatosis as assessed by MR spectroscopy. {3,4}

References :
  1. Sass DA, Chang P, Chopra KB. Non-alcoholic fatty liver disease: A clinical review. Digestive Diseases and Sciences. 2005; 50: 171 – 180
  2. Feldstein A E, Charatcharoenwitthaya P, Traprasertsuk S, Benson JT, Enders FB, Angulo P. The natural history of non- alcoholic fatty liver disease in children: a follow up study for upto 20 years. Gut 2009; 58: 1538 - 1544
  3. Schwimmer JB, Middleton MS, Deutsch R, Lavine JE. A phase 2 clinical trial of metformin as a treatment for non-diabetic pediatric non-alcoholic steatohepatitis. Aliment Pharmacol Ther 2005; 21: 871 – 879
  4. Vajro P et al. Diagnosis of Nonalcoholic Fatty Liver Disease in Children and Adolescents: Position Paper of the ESPGHAN Hepatology Committee. J Pediatr Gastroenterol Nutr. 2012; 54: 700–713.

Correct Answers :  yes 43%
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