BACKGROUND In Romania, 23 patients have been diagnosed with hereditary transthyretin amyloidosis (ATTRh), 18 of whom have the Glu54Gln mutation. This retrospective cohort included all patients with Glu54Gln-mutated ATTRh who were diagnosed in Romania from 2005 to 2018. RESULTS Of 18 patients, 10 were symptomatic, five were asymptomatic carriers and three died during the study. All originated from North-East Romania. Median age at symptom onset was 45 years; median age at death was 51 years. All patients had cardiac involvement, including changes in biomarkers (mean N-terminal-pro B-type natriuretic peptide: 2815.6 pg/ml), electrocardiography (15% atrial fibrillation, 38% atrioventricular block, 31% right bundle block), and echocardiography (mean interventricular septum: 16 mm, mean left ventricular ejection fraction: 49%). Scintigraphy showed myocardial radiotracer uptake in all patients. In addition, 92% of patients had polyneuropathy at diagnosis and 53% had carpal tunnel syndrome; 69% exhibited orthostatic hypotension and 31% suffered from diarrhea. No renal or liver involvement was observed. CONCLUSIONS This is the largest Glu54Gln-mutated ATTRh cohort diagnosed to date, and to our knowledge the first describing this variant worldwide. Clinical features of this variant are early onset, neurological and cardiac involvement, aggressive disease progression and short survival. Early diagnosis and therapeutic intervention have potential to improve prognosis in ATTRh.

中文翻译：

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在罗马尼亚人群中发现患有Glu54Gln转甲状腺素蛋白的遗传性淀粉样变性患者的临床特征。

背景技术在罗马尼亚，已经诊断出23名遗传性甲状腺素蛋白遗传病（ATTRh），其中18名患者患有Glu54Gln突变。这项回顾性研究纳入了2005年至2018年在罗马尼亚诊断出的所有Glu54Gln突变的ATTRh患者。结果在研究期间，有18例有症状，5例无症状携带者和3例死亡。全部起源于东北罗马尼亚。症状发作的中位年龄为45岁。中位死亡年龄为51岁。所有患者都有心脏受累，包括生物标志物的变化（平均N端前B型钠尿肽：2815.6 pg / ml），心电图（15％的房颤，38％的房室传导阻滞，31％的右束传导阻滞）和超声心动图（平均室间隔：16 mm，平均左室射血分数：49％）。闪烁扫描显示所有患者均吸收了心肌放射性示踪剂。另外，有92％的患者在诊断时患有多发性神经病，而53％的患者患有腕管综合征。69％表现为体位性低血压，31％表现为腹泻。没有观察到肾脏或肝脏受累。结论这是迄今为止被诊断出的最大的Glu54Gln突变ATTRh队列，据我们所知，它是世界范围内第一个描述此变异的人。该变体的临床特征是早期发作，神经和心脏受累，侵袭性疾病进展和生存期短。早期诊断和治疗干预可能会改善ATTRh的预后。69％表现为体位性低血压，31％表现为腹泻。没有观察到肾脏或肝脏受累。结论这是迄今为止被诊断出的最大的Glu54Gln突变ATTRh队列，据我们所知，它是世界范围内第一个描述此变异的人。该变体的临床特征是早期发作，神经和心脏受累，侵袭性疾病进展和生存期短。早期诊断和治疗干预可能会改善ATTRh的预后。69％表现为体位性低血压，31％表现为腹泻。没有观察到肾脏或肝脏受累。结论这是迄今为止被诊断出的最大的Glu54Gln突变ATTRh队列，据我们所知，它是世界范围内第一个描述此变异的人。该变体的临床特征是早期发作，神经和心脏受累，侵袭性疾病进展和生存期短。早期诊断和治疗干预可能会改善ATTRh的预后。