Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study

Saku Pelttari, Suvi Väärämäki, Olivier Vanakker, Shana Verschuere, Hannu Uusitalo, Heini Huhtala, Tero Hinkka, Ilkka Pörsti, Pasi I Nevalainen

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BACKGROUND: 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.

RESULTS: 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.

CONCLUSIONS: 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.

Original languageEnglish
Article number185
JournalOrphanet Journal of Rare Diseases
Publication statusPublished - 7 May 2022
Publication typeA1 Journal article-refereed


  • Finland/epidemiology
  • Genotype
  • Humans
  • Pseudoxanthoma Elasticum/epidemiology
  • Registries
  • Vascular Malformations/epidemiology

Publication forum classification

  • Publication forum level 1


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