肝臓ジャーナル: 病気と移植

A Family with Primary Intestinal Lymphangiectasia and Its Association with Liver Fibrosis

Ajay K. Jain1 *, Suchita Jain2 , Rahul Agrawal1 , Suresh Hirani1 , Shohini Sircar1

Primary intestinal lymphangiectasia (PIL) is a rare disorder of unknown etiology usually diagnosed before three years of age. Its characteristic features are chronic diarrhea and bilateral pitting edema of the lower limb. Reports of multiple members of a family affected by PIL are rare, as are reports of a relationship between PIL and liver fibrosis. We diagnosed a family of three adults, who were being managed as chronic liver disease. We found that all three members of a family were suffering from long-term PIL and also had features of liver cirrhosis, which is an extremely rare association