In a brief survey the work of Swedish porphyrinologists through time is presented, from the organic chemist Jakob Berzelius 1840 to the molecular biologists of today. The building up in Stockholm of a Swedish national competence centre for
porphyria is touched upon and the emergence of a computerized national register on the
porphyria gene carriers in the country described. Figures for the prevalences of the seven different forms of
porphyria diagnosed in Sweden are given. The geographical distribution of gene mutation spectra is shown for the most frequent form,
acute intermittent porphyria. The organisation at
Porphyria Centre Sweden of its diagnostic and consultative services is described, as is the decentralized model for
porphyria care applied in the form of a clinical network covering the long and sparsely populated country. The ideas and activities of the Swedish
Porphyria Patients' Association are presented. Its focus on protection-by-information of the
porphyria gene carrier against maltreatment in health service contacts, and against other exposures to environmental threats to his or her health, is discussed. The combined efforts of the national
porphyria centre and the patients' association have resulted in early and accurate diagnosis of most of the
porphyria gene carriers in the country. The information to the carriers and to the health service regarding the mechanisms of the diseases and the importance of avoiding exposure to disease triggering environmental factors have greatly reduced porphyric morbidity. In the case of the
acute porphyrias, by this programme and after the introduction of
heme arginate in the
therapy, mortality in the acute phase has become extremely rare in Sweden. In contrast, probably due to greater awareness of the high risk for
liver cancer in
acute porphyrias the number of
hepatoma cases diagnosed has increased. The current research activities at the
Porphyria Centre which aim at finding ways to substitute the mutated gene in
acute intermittent porphyria for an undamaged one, or to substitute the
enzyme deficiency by administration of exogenously produced
enzyme, are mentioned, as is the work to establish a reliable
drug porphyrinogenicity prediction model for evidence based
drug counselling.