A Multifaceted Disease of Problematic Diagnosis in Childhood; Hereditary Hemorrhagic Telangiectasia: A Case Report

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited in an autosomal dominant manner and may involve skin, mucosa, and internal organs. HHT may cause arteriovenous, arterioportal, and portovenous shunts in the liver, resulting in cirrhosis and portal hypertension. An eight-year-old male patient with a diagnosis of myelodysplastic syndrome for two years was admitted with melena. Portal doppler ultrasonography showed a heterogeneous appearance of the liver parenchyma and splenomegaly (spleen size of 14 cm) with no portal hypertension. An extended etiological investigation for chronic liver disease was conducted. Afterliver biopsy, the patient’s general condition deteriorated, with abdominal distension and reduced hematocrit. The Doppler and hepatic angiography results together with a history of recurrent episodes of epistaxis led to the diagnosis of HHT. The patient was referred to the transplant center for liver transplantation due to the irreversible bleeding from the liver. Hepatic telangiectasias may be present in patients without hematologic disorders who have uncontrollable bleeding after liver biopsy.