Elevated serum bile acids in a child with liver disease
 
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Ira Shah
Medical Sciences Department, Pediatric Oncall, Mumbai, India

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


Clinical Problem :
A 2½ years old girl presented with generalized itching since 8 months of age. There was no history of jaundice. Her milestones were appropriate for age. On examination, weight was 9.4 kg, height was 81 cms, and she had dry excoriated skin with 9 cms hepatomegaly. Other systems were normal. Investigations showed bilirubin 1.6 mg, dl, SGOT - 41 IU, L, SGPT – 62 IU, L, GGTP – 20, total proteins 6.7 gm, dl, albumin 3.2 gm, dl, alkaline phosphatase 894 IU, L, prothrombin time 11.1 sec., partial thromboplastin time 31.7 sec, cholesterol = 190 mg, dl and serum bile acids of 152.4 µmol, L {Normal = 0 - 10 µmol, L}. Ultrasound abdomen showed mild hepatosplenomegaly with gall bladder sludge. Liver biopsy showed piecemeal necrosis with early cirrhosis and no bile stasis or bile duct proliferation. She was started on cholestyramine, diphenhydaramine, ursodeoxycholic acid to which she had mild relief.


Question :
How to interpret serum bile acids_?

Expert Opinion :
Bile acids are the main by-product of cholesterol metabolism in the liver and play a major role in maintaining bile flow. Many enzymes are involved in the conversion of cholesterol into bile acids. {1} Diseases associated with inborn error of bile acid metabolism lead to formation of atypical bile acids that may be toxic and cause decrease in bile flow or cholestasis whereas those with defects in bile acid transporters such as the progressive familial intrahepatic cholestasis {PFIC} may interfere with the transport processes of bile components. {1} Thus in patients with bile acid synthesis defect, the serum or urine primary bile acids will be normal whereas in patients with PFIC and other causes of neonatal cholestasis, it will be elevated. However, in these patients, there should be conjugated hyperbilirubinemia. In familial hypercholanemia, there is elevated serum bile acid concentrations, itching, and fat malabsorption and biochemical markers of liver injury are normal. {2} Thus in this child, with minimally elevated serum bilirubin, normal GGTP, itching, liver disease on histology, the elevated serum bile acids would suggest transport defect such as PFIC and not a bile acid synthetic defect.

References

1. Yousef IM, Perwaiz S, Lamireau T, Tuchweber B. Urinary bile acid profile in children with inborn errors of bile acid metabolism and chronic cholestasis` screening technique using electrospray tandem mass-spectrometry {ES, MS, MS}. Med Sci Monit. 2003` 9: MT21-31
2. Hypercholanemia, Familial` FHCA. Available at website: ww.omim.org, entry, 607748. Accessed on 25th May 2015


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