290人のHHT患者さんの臨床像
2020年3月にソウルである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290人の患者さんの検討です．
CLINICAL ANALYSIS OF 290 JAPANESE HHT PATIENTS
Masaki Komiyama, Ryoko Umaba, Aiko Terada, and Tomoya Ishiguro
Department of Neuro-Intervention, Osaka City General Hospital, Osaka Japan
Objectives: To analyze clinical characteristics of Japanese hereditary hemorrhagic telangiectasia (HHT) patients.
Methods: 290 Japanese HHT patients who were diagnosis by Curaçau criteria (>=3) and/or genetic test were included and retrospectively reviewed. Thus, all patients were definite HHT. There were 138 men and 152 women aged 0-86 years (mean 41.9). 50 patients were children (<= 18 years old, mean 8.4). 227 patients underwent genetic tests. Principally, all adult patients underwent enhanced MR for brain AVM (bAVM) and plain CT for pulmonary AVM (pAVM). In selected patients, dynamic CT for hepatic AVM (hAVM), enhanced CT or MR for spinal AVM (sAVM), and endoscope for GI tract AVM were performed.
Results: There were 128 HHT1 (56.4%), 78 HHT2 (34.4%), and 20 mutation-undetected (8.8%) patients. Mean ages were 35.1, 47.7, and 47.5 years, respectively. 4 patients (1.4%) had de novo mutations. bAVMs were found in 65 patients (23.5%); 37 HHT1 (28.9%) and 2 HHT2 (2.6%) patients. Among 65 patients with bAVM, there were 33 patients with nidus AVM, 14 with pial AVF, 25 with capillary vascular malformation, and 12 micro-AVMs (<= 10 mm). pAVMs ware found in 143 patients; 82 HHT1 (64.1%) and 12 HHT2 (15.4%) patients. hAVMs were found in 144 patients; 34 HHT1 (26.6%) and 59 HHT2 (75.6%) patients. 3 patients (1.0%) had sAVF. 6 patients died; 4 of them were due to HHT-related causes. Among 50 children, their Curaçau diagnoses were 35 definite, 9 probable, and 6 unlikely.
Conclusions: Younger age of HHT1, higher prevalence of pAVF and bAVM among HHT1 and hAVM among HHT2 are confirmed in Japanese HHT patients. Individualized treatment for bAVM and aggressive treatment for pAVM are recommended.
2019.12.21 記載