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Porphyria in Sweden.

S Thunell1, Y Floderus, A Henrichson

  • 1Porphyria Centre Sweden, CMMS C2 71, Karolinska University Hospital Huddinge, Stockholm, Sweden. stig.thunell@karolinska.se

Physiological Research
|February 15, 2007
PubMed
Summary

Swedish porphyria research has advanced significantly, establishing a national center and registry for early diagnosis and improved patient care. This has drastically reduced mortality and morbidity from porphyria in Sweden.

Area of Science:

  • Biochemistry and Genetics
  • Medical History
  • Public Health

Background:

  • Porphyria research in Sweden traces back to Jakob Berzelius, evolving into modern molecular biology.
  • A national competence center and computerized registry for porphyria gene carriers have been established in Stockholm.

Purpose of the Study:

  • To present the historical development and current status of porphyria research and care in Sweden.
  • To detail the organization, services, and patient advocacy efforts related to porphyria in the country.
  • To highlight the impact of these initiatives on diagnosis, morbidity, and mortality.

Main Methods:

  • Historical review of Swedish porphyrinology.
  • Description of the national porphyria center, registry, and care network.

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  • Analysis of porphyria prevalence, gene mutation spectra, and patient association activities.

    • Main Results:

    • Sweden has achieved early and accurate diagnosis for most porphyria gene carriers.
    • Porphyric morbidity has been significantly reduced through patient education and avoidance of triggers.
    • Mortality from acute porphyria phases is now rare, though hepatoma diagnoses have increased due to heightened awareness.

    Conclusions:

    • The combined efforts of the national porphyria center and patient association have dramatically improved porphyria management in Sweden.
    • Ongoing research focuses on gene therapy and enzyme replacement for acute intermittent porphyria.
    • Development of a drug porphyrinogenicity prediction model is crucial for evidence-based drug counseling.