Department of Medical Biochemistry, Oslo University Hospital, Oslo, 0424, Norway.
Department of Clinical Medicine (K1), University of Bergen, Bergen, 5020, Norway.
Ann Clin Transl Neurol. 2024 Jul;11(7):1819-1830. doi: 10.1002/acn3.52088. Epub 2024 Jun 7.
To investigate the prevalence and natural history of POLG disease in the Norwegian population.
A national, population-based, retrospective study using demographic, clinical, and genetic data of patients with genetically confirmed POLG disease. The patients were diagnosed between 2002 and 2022, and were included into the Norwegian POLG Patient Registry. Patients were stratified according to age at disease onset (early <12 years, juvenile to adult 12-40 years, late ≥40 years) and resident region.
Ninety-one patients were included. The point prevalence of POLG disease was 1:149,253. Birth prevalence was 1:48,780. Median age at clinical onset was 16 years (range: 2 months to 70 years). Onset occurred early in 35% (32 out of 91), juvenile-adult in 55% (50 out of 91) and late in 10% (9 out of 91). A distinct seasonal pattern in disease onset was observed, with 57% (52 out of 91) presenting between May and August. Forty-five patients (49%) had acute exacerbations that required intensive care, and this affected 72% of those in the early-onset group. The mortality rate was 54% (49 out of 91), with a median time from disease onset to death of 3 years (range: 1 month to 36 years).
We provide the point prevalence and birth prevalence of POLG disease in the first nationwide study in which epidemiological and clinical data were integrated. Seasonal variations in clinical onset may offer valuable insights into disease mechanisms and modifying factors. The findings from this study are crucial for quantifying the disease burden, and contribute to evidence-based healthcare planning.
调查挪威人群中 POLG 病的患病率和自然史。
一项全国性、基于人群的回顾性研究，使用具有遗传确认的 POLG 病患者的人口统计学、临床和遗传数据。这些患者的诊断时间在 2002 年至 2022 年之间，并被纳入挪威 POLG 患者登记处。患者根据发病年龄（早发性<12 岁、青少年至成年 12-40 岁、晚发性≥40 岁）和居住地区进行分层。
共纳入 91 名患者。POLG 病的时点患病率为 1:149,253。出生患病率为 1:48,780。临床发病中位年龄为 16 岁（范围：2 个月至 70 岁）。35%（32/91）的患者发病早，55%（50/91）的患者发病青少年至成年，10%（9/91）的患者发病晚。发病存在明显的季节性模式，57%（52/91）的患者在 5 月至 8 月之间发病。45 名（49%）患者出现需要重症监护的急性恶化，这一比例在早发性组中为 72%。死亡率为 54%（49/91），从发病到死亡的中位时间为 3 年（范围：1 个月至 36 年）。
这是第一项整合了流行病学和临床数据的全国性研究，我们提供了 POLG 病的时点患病率和出生患病率。临床发病的季节性变化可能为疾病机制和修饰因素提供有价值的见解。本研究的发现对于量化疾病负担至关重要，并有助于基于证据的医疗保健规划。
