200人のHHT患者さんの臨床像
2017年のクロアチアである2年毎のHHTの国際学会で発表します．世界のHHTの患者さんの特徴はあまり地域差はありません．また遺伝子検査がなくても臨床的な診断基準がかなり正確であることがわかります．しかし、その診察には少し経験が必要と思われます．大阪市立総合医療センターで診察・加療を行なった200人の患者さんの検討です．
Title
CLINICAL ANALYSIS OF 200 JAPANESE HHT PATIENTS
Authors
Komiyama M1, MD, Terada A1, MD, Ishiguro T1, MD, Morisaki H2, MD, Miyatake S3, MD, Matsumoto N3 ,MD
Affiliations
1Department of Neuro-Intervention, Osaka City General Hospital, Osaka Japan
2Department of Medical Genetics, Sakakibara Heart Institute, Tokyo Japan
3Department of Human Genetics, Yokohama City University Graduate School of
Medicine, Yokohama, Japan
Objectives: To analyze clinical characteristics of Japanese HHT patients and false negative factors of Curaçao criteria (1-2 points) among them.
Methods: 200 Japanese HHT patients who were diagnosis by genetic test and/or Curaçau criteria (>=3) were included. Thus, all patients were definite HHT. There were 102 men and 98 women aged 0-82 years (mean 40.1). 170 patients underwent genetic tests. Essentially all patients underwent MR for bAVM and CT for pAVF. Additionally, dynamic CT for hAVM, enhanced CT or MR for sAVM, and endoscope for GI tract AVM were performed in selected patients. Genetically confirmed HHT patients with Curaçao 1-2 points were further analyzed.
Results: There were 97 HHT1, 57 HHT2, and 16 mutation-undetected patients. Mean ages were 33.2, 46.6, and 50.6 years, respectively. pAVFs ware found in 63 HHT1 and 10 HHT2 patients. bAVM were found in 28 HHT1 and 2 HHT2 patients. hAVMs were found in 24 HHT1 and 43 HHT2 patients. Among 154 genetically confirmed patients, 18 patients (12 children and 6 adults) were either probable or unlikely. Six adult patients (mean age 31.2) lacked either nosebleed or telangiectasia as well as visceral AVMs. Only 1 of nine screened children had bAVM and pAVF. Only one of 6 adult patients had pAVF.
Conclusions: Younger age of HHT1, higher prevalence of pAVF and bAVM among HHT1 and hAVM among HHT2 were confirmed in Japanese HHT patients. Curaçao diagnostic criteria are generally reliable except for children, but false negative must be taken into account in adult patients.
2017.2.3 記載