[Gene diagnosis and treatment of hereditary hemorrhagic telangiectasia with epistaxis as its main symptom].

Objective

The aim of this study is to investigate the gene diagnosis and the treatment of hereditary hemorrhagic telangiectasia (HHT) with epistaxis as the main symptom, and to analyze the mutation of ACVRL1 gene in the family. Method:Detailed pedigree investigation was carried out on the proband.Sixtynine genes related to coagulation disorder were sequenced and analyzed by high throughput sequencing for the father and son of the proband. Result:Four generations of the family consisted of 30 probands, including 11 patients. A pathogenic mutation ACVRL1_ex9 c.1313T > C (p.M438T) was detected in both patient and his father.

Conclusion

Recurrent epistaxis is the main manifestation of hereditary hemorrhagic telangiectasia in this family. The mutation of ACVRL1 gene is the pathogenic gene of this family, which can be treated by surgery and medicine.