Source: International Congress 2016 – Pulmonary hypertension and pulmonary embolism: from the bench to the bedside
Disease area: Pulmonary vascular diseases

Abstract

Hereditary haemorrhagic telangiectasia (HHT), or Rendu-Weber-Osler syndrome, is an autosomal dominant disorder characterized by epistaxis, telangiectases, and vascular dysplasia such as artetiovenous malformation (AVM) in multiple organs. The two major types of disease, HHT1 and HHT2, are caused by mutations in the ENG (endoglin) and ACVRL1 genes, respectively. Another type of disease is a combined syndrome of juvenile polyposis and HHT (JPHT) caused by mutated MADH4 gene. We analyzed clinical manifestations and genetic background of 18 Japanese individuals with HHT who were either genetically verified or clinically definite HHT according to the Curaçao criteria. Among 18 patients (4 men and 14 women; age 18-74, mean 49.4 years old), 16 had family histories, and all presented epistaxis. Four individuals had a mutation of the endoglin gene, three had that of the ACVRL1 gene, and one JPHT patient had a MADH4 gene mutation, respectively. Radiological examinations, which included at least brain magnetic resonance imaging and lung computed tomography, identified pulmonary AVMs in 13 individuals (5 were solitary, and 8 were multiple), hepatic AVMs or vascular dysplasia in 8, and cerebral vascular dysplasia in 2, respectively. For pulmonary AVMs, interventional transcatheter embolization using metallic coils was applied in 6 patients, and surgical resection was performed in 3. Pulmonary AVMs tended to be present in HHT1, while hepatic AVMs were predominantly detected in HHT2. In summary, clinical manifestations of Japanese patients with HHT are likely related to the genotype, and therefore the final typing of the disease is dependent on genetic analysis.


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Citations should be made in the following way:
Kunihiko Yoshimura (Tokyo, Japan), Kunihiko Yoshimura, Takafumi Ito, Hiromi Aono. Clinical manifestations and genetic background in Japanese patients with hereditary haemorrhagic telangiectasia. Eur Respir J 2016; 48: Suppl. 60, 2484

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