Byler’s disease – a case report

Summary of article contents:

Byler's disease or Progressive familial intrahepatic cholestasis is a rare genetic liver disorder of childhood that disrupt bile formation and presents with cholestasis of hepatocellular origin. It is characterized by a mutation in genes encoding proteins involved in the hepatocellular transport system. Main clinical manifestations include cholestasis, pruritus and jaundice. The exact prevalence remains unknown, but the estimated incidence varies between 1/50000 and 1/100000 births. In Ayurveda , this disease has similar features to Shakhashrita or Ruddhapatha Kamala. A 2-yearold female child diagnosed with Progressive familial intrahepatic cholestasis approached Sri Dharmasthala Manjunatheshwara College of Ayurveda and Hospital, Kuthpady, Udupi, Karnataka, India with the complaints of yellowish discolouration of skin and sclera, dark coloured urine, palecoloured faeces, severe itching with rashes all over the body, distension of abdomen etc. A detailed history was taken, and clinical findings were recorded. The patient was assessed based on liver function tests and also by the symptoms of the disease. The treatment history of the patient was recorded and the progress of the disease, as well as the effect of treatment, was assessed. Medicines given were Pippali Rasayana , Syrup Nirocil, and Kumaryasava. Considering that the disease PFIC has a poor prognosis with a chance of liver failure and with rapid progression, the treatment given is proved to be effective in improving the parameters thereby reversing the pathology of the disease. Hence it can be concluded that the treatment protocol was effective in the management of Byler's disease. Keywords: Byler