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

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia which is inherited in an autosomal dominant manner and may involve skin, mucosa and internal organs. HHT can cause arteriovenous, arterioportal, and portovenous shunts in the liver, resulting in cirrhosis and portal hypertension. An 8-year-old male patient with a diagnosis of myelodysplastic syndrome for 2 years was admitted with melena.Portal doppler ultrasonography showed a heterogeneous appearance of the liver parenchyma and 14 cm splenomegaly 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 findings together with the history of recurrent episodes of epistaxis led us to the diagnosis of HHT. He was referred to the transplant center for liver transplantation due to the irreversible bleeding from the liver. Hepatic telangiectasias may be present in patients with uncontrollable bleeding after liver biopsy who do not have any hematologic disorders.