Document Detail


Variegate porphyria. Twelve years' experience in Finland.
MedLine Citation:
PMID:  7433635     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Fifty-seven patients with variegate porphyria belonging to nine families are described. The prevalence of variegate porphyria in Finland is 1.3 per 100 000. Eighteen patients had had acute attacks. During on average 5.7 years' follow-up only two of 48 patients had symptoms, which were temporary and acute. The length of life of 13 genealogically traced gene carriers who lived mostly during the 19th century did not differ from that of the general population. Skin fragility occurred in 45 per cent of the patients and was usually mild. No patients were sensitive to sunlight but seven of 14 tested reacted abnormally to artificial light. The characteristic increase in the excretion of faecal proto- and coproporphyrin was usually apparent even in the latent stage of porphyria, but increased excretion of urinary porphyrin precursors occurred only during an acute attack. However, in seven of 48 patients studied during the latent stage, faecal prophyrins were only slightly elevated or even normal, causing problems in diagnosis. Determination of faecal X-porphyrin was of no help in diagnosis. Red cell free protoporphyrin was significantly higher and serum haemopexin lower than in controls. Red cell uroporphyrinogen I synthase activity was normal in 17 of 18 patients studied. We conclude that variegate porphyria may be commoner than hiherto suspected; only half the patients in temperaure and cold climates have skin symptoms, the risk of developing an acute attack is low, and some adult patients excrete normal or only slightly abnormal amounts of porphyrin.
Authors:
P Mustajoki
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Quarterly journal of medicine     Volume:  49     ISSN:  0033-5622     ISO Abbreviation:  Q. J. Med.     Publication Date:  1980  
Date Detail:
Created Date:  1981-01-16     Completed Date:  1981-01-16     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401027     Medline TA:  Q J Med     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  191-203     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Acute Disease
Adolescent
Adult
Aged
Feces / analysis
Female
Finland
Follow-Up Studies
Humans
Male
Middle Aged
Pedigree
Porphyrias / epidemiology*,  genetics,  metabolism
Porphyrins / metabolism
Prognosis
Recurrence
Skin Diseases / etiology
Chemical
Reg. No./Substance:
0/Porphyrins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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