Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, 00168 Rome, Italy.
Università Cattolica del Sacro Cuore, Sede di Roma, Largo A. Gemelli 8, 00168 Roma, Italy.
Genes (Basel). 2021 May 28;12(6):829. doi: 10.3390/genes12060829.
Hereditary transthyretin amyloidosis (ATTRv, v for variant) prevalence in Italy, a non-endemic region, has been established by ATTRv amyloidosis Italian Registry. However, values of prevalence were extremely heterogeneous, considering different regions. To properly establish the prevalence of the disease in the Lazio region, a survey was sent to university regional hospitals and to main regional hospitals, in order to collect all affected patients regularly followed. We identified 100 ATTRv patients and, considering a Lazio population of 5.8/million, we estimated a ATTRv prevalence of 17.2/million. The ATTRv amyloidosis Italian Registry reported a prevalence of 8.0/million in Lazio, while our survey showed a value of double this. Our survey documented a high-prevalence for a non-endemic country. The increased awareness of the disease among general practitioners and medical specialists is a fundamental step to reduce the diagnostic delay and start an effective treatment of this disease.
意大利遗传性转甲状腺素淀粉样变性（ATTRv，v 代表变体）的患病率已通过 ATTRv 淀粉样变性意大利登记处确定。然而，考虑到不同地区，患病率存在极大的异质性。为了正确确定拉齐奥地区该病的患病率，我们向大学区域医院和主要区域医院发送了一项调查，以收集所有定期随访的受影响患者。我们确定了 100 名 ATTRv 患者，根据拉齐奥 580 万人口计算，我们估计 ATTRv 的患病率为 172 万。ATTRv 淀粉样变性意大利登记处报告拉齐奥的患病率为 800 万，而我们的调查显示这一数字翻了一番。我们的调查记录了一个非流行国家的高患病率。提高全科医生和医学专家对该病的认识是减少诊断延迟和开始有效治疗该病的重要步骤。
