Faculty of Medicine and Life Sciences, Tampere University, Tampere, Finland.
Centre for Vascular Surgery and Interventional Radiology, Tampere University Hospital and Tampere University, Tampere, Finland.
Orphanet J Rare Dis. 2022 May 7;17(1):185. doi: 10.1186/s13023-022-02341-6.
Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE in Finland and to characterize the Finnish PXE population. A nationwide registry search was performed to identify patients with ICD-10 code Q82.84. Information was gathered from available medical records which were requisitioned from hospitals and health centers. Misdiagnosed patients and patients with insufficient records were excluded.
The prevalence of PXE in Finland was 1:260,000 with equal sex distribution. Patients with high conventional cardiovascular risk had more visual and vascular complications than patients with low risk. Four patients (19%) had at least one vascular malformation. A high proportion (33%) of ABCC6 genotypes were of the common homozygous c.3421C > T, p.Arg1141Ter variant. Nine other homozygous or compound heterozygous allelic variants were found.
The prevalence of diagnosed PXE appears to be lower in Finland than in estimates from other countries. Decreased visual acuity is the most prevalent complication. We suggest that various vascular malformations may be an unrecognized feature of PXE.
弹性假黄瘤（PXE，OMIM# 264800）是一种先天性代谢紊乱，由于血浆焦磷酸盐浓度降低，导致异位软组织钙化。我们旨在评估芬兰 PXE 的患病率，并对芬兰 PXE 人群进行特征描述。通过全国性的注册表搜索，确定了 ICD-10 编码为 Q82.84 的患者。从医院和健康中心获取了可利用的病历信息。排除了误诊患者和记录不充分的患者。
芬兰 PXE 的患病率为 1:260,000，男女患病率相等。具有高传统心血管风险的患者比低风险患者有更多的视觉和血管并发症。四名患者（19%）至少有一种血管畸形。ABCC6 基因型中，常见的纯合子 c.3421C>T，p.Arg1141Ter 变异占相当大的比例（33%）。还发现了其他 9 种纯合子或复合杂合子等位基因突变。
芬兰诊断出的 PXE 患病率似乎低于其他国家的估计。视力下降是最常见的并发症。我们建议，各种血管畸形可能是 PXE 的一个未被认识到的特征。
