A questionnaire-based survey to evaluate and improve the current HHT medical and social condition in Japan

Background: Hereditary hemorrhagic telangiectasia (HHT) is a genetic systemic vascular disease affecting multiple organs and shows recurrent intractable symptoms. This disease has not been widely recognized in Japan until recently. Both diagnosed HHT patients and potential ones have faced difficulties because of the unfamiliarity with the disease in Japan. To evaluate the effect and degree of such a Japanese situation, a questionnaire-based survey was executed in this study. Methods: This survey was carried out among the members of HHT Japan Association. The organization consisted of 102 members (as of 6/2019), mainly HHT patients and their family members. A questionnaire was used to gather demographic data, the effort to reach the diagnosis, and information regarding current patients' and their families' medical managements. Results: Of the 102 questionnaires distributed, we have got 56 responses. The participants were mostly female (30) with an average age of 55.4 ± 14.8 (mean ± standard deviation [SD]) years. The average age of males was 53.5 ± 16.4. Relatively many HHT patients were born in huge cities such as Tokyo, Osaka, and Fukuoka Prefecture (n = 4 to 8 patients). The duration between the initial symptoms and the definite diagnosis was 8.8 ± 10.9 years. The number of hospitals involved in the final diagnosis was 2.38 ± 1.83. More than 70% of patients now have to visit at least two departments and 24% of HHT patients did not want their family to screen for HHT. Conclusion: HHT medical practice in Japan should be further modified, for example, by establishing HHT centers and educating primary care physicians and HHT patients.