Porphyria cutanea tarda and haemochromatosis: a family study

A female patient aged 73 presented with a history of general malaise and hyperpigmentation. Iron studies in the patient and immediate family members indicated that the proband was homozygous for haemochromatosis, but subsequent investigations revealed that porphyria cutanea tarda was responsible for...

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Bibliographic Details
Published in:Gut 1990-06, Vol.31 (6), p.719-721
Main Authors: Seymour, D G, Elder, G H, Fryer, A, Jacobs, A, Williams, G T
Format: Article
Language:English
Subjects:
Aged
Biological and medical sciences
Female
Hemochromatosis - genetics
Humans
Male
Medical sciences
Metabolic diseases
Other metabolic disorders
Pedigree
Pigments (porphyrias, hyperbilirubinemias...)
Porphyrias - genetics
Skin Diseases - genetics
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Summary:A female patient aged 73 presented with a history of general malaise and hyperpigmentation. Iron studies in the patient and immediate family members indicated that the proband was homozygous for haemochromatosis, but subsequent investigations revealed that porphyria cutanea tarda was responsible for her signs and symptoms. Venesection of four units of blood brought her symptoms under control. The interplay between porphyria cutanea tarda and excess iron deposition is discussed as is the role of extending investigations to first and second degree relatives when either haemochromatosis or porphyria cutanea tarda is suspected.
ISSN:0017-5749
1468-3288
1458-3288
DOI:10.1136/gut.31.6.719