Congenital hepatic fibrosis with negative endoscopic evaluation of esophageal and gastric varices: A case report

Abstract

Rational: Congenital hepatic fibrosis (CHF) is a rare autosomal recessive genetic disease, which is often diagnosed in children and young adults. The clinical manifestations of CHF were lack of specificity, mainly including portal hypertension related symptoms and signs, and normal or mildly abnormal liver function. When no obvious varices are indicated under endoscope, it can easily lead to misdiagnosis or missed diagnosis. We report this case in the hope of raising awareness of this disease. Patient concerns: A 31 years old male patient with major clinical manifestations of unexplained thrombocytopenia for 5 years. Diagnoses: Results of ultrasound, magnetic resonance imaging (MRI) and computed tomography portal venography (CTV) showed that patient had liver cirrhosis with portal hypertension and liver biopsy revealed CHF. Intervention: Patient received ursodeoxycholic acid tablets, fuzheng huayu capsule, ganshuang granule, etc for liver protection treatment. Outcomes: The condition of patient stabilized after symptomatic treatment. Spleen resection will be considered during follow-up. Lessons: This case reminds us that in case of patients with negative endoscopic evaluation, ultrasonic, computed tomography (CT) and MRI examination should be performed at the same time to determine whether patients have portal hypertension. When patients with normal or mildly abnormal liver function had unexplained liver cirrhosis complicated with portal hypertension, the possibility of CHF should be considered.