Various Vascular Malformations Are Prevalent in Finnish Pseudoxanthoma Elasticum (PXE) Patients: a National Registry Study

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2022 May 7

PMID 35525997

Authors

Saku Pelttari

Suvi Vaaramaki

Olivier Vanakker

Shana Verschuere

Hannu Uusitalo

Heini Huhtala

Tero Hinkka

Ilkka Porsti

Pasi I Nevalainen

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

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Wada S, Miyake M, Kido A, Kamei T, Hiragi S, Ikeda H Ophthalmol Sci. 2023; 4(2):100370.

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