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Microsampling in Targeted Mass Spectrometry-Based Protein Analysis of Low-Abundance Proteins

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Published on: January 13, 2023

Porphyrias in Norway.

Mira Mykletun¹, Aasne Karine Aarsand¹, Egil Støle¹

¹Nasjonalt kompetansesenter for porfyrisykdommer (NAPOS) Laboratorium for klinisk biokjemi Haukeland universitetssykehus.

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke

|May 1, 2014

Summary

Porphyria prevalence in Norway is higher than previously reported, particularly for porphyria cutanea tarda and acute intermittent porphyria. This study highlights diagnostic delays and variations in patient follow-up for these rare hereditary blood disorders.

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Area of Science:

Medical Genetics
Hematology
Epidemiology

Background:

Porphyria encompasses hereditary disorders of heme synthesis with diverse symptoms.
Common types include porphyria cutanea tarda, acute intermittent porphyria, and erythropoietic protoporphyria.

Purpose of the Study:

To determine the prevalence and incidence of porphyrias in Norway.
To describe the pathological manifestations, diagnostic delays, and follow-up routines for porphyria patients in Norway.

Main Methods:

Utilized data from the Norwegian Porphyria Centre (NAPOS) up to 2012.
Analyzed patient information from the Norwegian Porphyria Registry, covering 70% of NAPOS-registered individuals.

Main Results:

Prevalence: Porphyria cutanea tarda (approx. 10:100,000), Acute intermittent porphyria (approx. 4:100,000).
Total incidence of all porphyrias: approx. 0.5-1:100,000 annually.
Diagnostic delay ranged from 1-17 years; follow-up frequency varied significantly among patients.

Conclusions:

Porphyria cutanea tarda and acute intermittent porphyria prevalence in Norway exceeds that in most other countries.
The Norwegian Porphyria Registry data reveals disparities in treatment and follow-up, indicating areas for improvement.