Imaging In The Diagnosis Of Hereditary Hemorrhagic Telangiectasia

Objective Summarized the clinical characteristics and imaging findings of some members of the three hereditary hemorrhagic telangiectasia(HHT)families,to evaluate the value of imaging examination for the diagnosis of hereditary hemorrhagic telangiectasia,analyze the quality of life effects of the disease on the patient,improve the understanding of HHT,expound the current treatment of the disease,and explore the meaning and deficiency of the existing clinical diagnostic criteria(Curacao Diagnostic Criteria).Methods Three HHT patients were used as the core,collected the clinical manifestations,signs,some laboratory tests and comprehensive feelings(including physical and the imaging data,including MRI scan of brain,TOP-MRA of intracranial artery,PC-MRV of intracranial vein and enhanced CT scan of chest and abdomen.Questionnaire survey was used to assess patient quality of life.Curacao diagnostic criteria were used for comprehensive clinical diagnosis.Results A total of 42 cases from three families were included in this study,including 20 cases of the first,4 cases of diagnosis and 8 cases of suspicion,6 patients were positive in imaging;17 cases of the second,3 cases of diagnosis and 5 cases of suspicion,7patients were positive in imaging;5 cases of the third and three generations and 2 case of diagnosis,2 patients were positive in imaging.The clinical diagnosis rate before imaging was 11.9%,the clinical diagnosis rate after imaging screening was 21.4%,and the positive rate was 35.7%.Quality of life: 10(23.8%)considered poor,11(26.2%)considered average,and 21(50%)considered good.Conclusion People need pay more attention to the pathogenicity and potential harmfulness of HHT on the population.Imaging examination can be an important means for early identification of HHT.It is necessary to conduct imaging screening and follow-up for family members with confirmed HHT,which can improve the diagnosis rate of HHT.Patients generally have different degrees of decreased quality of life.They need targeted and personalized comprehensive treatment for the disease.The limitations of the existing clinical diagnostic criteria for the early diagnosis of HHT pedigree members.So we need flexible application of imaging methods and clinical manifestations,to intervene in the occurrence and development of the disease as early as possible.