HEREDITARY HEPATIC PORPHYRIAS

• Published in: Acta Medica Scandinavica
• Main Author: With, Torben K.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wiley 1969
• Subjects: Northern Sweden
• Online Access: http://dx.doi.org/10.1111/j.0954-6820.1969.tb01449.x; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.0954-6820.1969.tb01449.x; https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.0954-6820.1969.tb01449.x

Abstract On the basis of systematic family investigations of Danish porphyria patients through ten years, with recording in a card index, the gene penetration has been studied in different families. The suggestion of Waldenström that gene penetration might vary was confirmed, as some families had many manifest cases and a high number of latent cases excreting high concentrations of metabolites, while others had only one manifest case and few latent excretors with low metabolite concentration. Further, an intermediate status of different degrees exists as illustrated by Figs. 1–6. It is concluded that the large families with acute porphyria in Northern Sweden and with variegate porphyria in South Africa constitute extremes, the most frequent finding in other countries being families with considerably less pronounced gene penetration. Observations further suggest that the sensitivity to drugs—barbiturates etc.—as provocators of porphyric attacks varies with the gene penetration prevailing in the family; thus the risk of drug‐provoked attacks seems to be much higher in Sweden and South Africa than in Denmark. It is therefore an important point in the prophylaxis of the porphyric attack to study the family of every patient to get an impression of the gene penetration and drug sensitivity prevailing in that particular porphyric family. It is recommended that a “complete porphyrinological investigation” be performed in all porphyric patients as well as their close relatives—parents, siblings, children—i.e., screening tests for porphyrin in urine and faeces, supplemented by quantitative analyses if positive, and—last but not least—ion exchange chomatographic analysis for both porphobilinogen (PBG) and delta‐aminolaevulinic acid (ALA). This should be done not only in acute intermittent porphyria (AIP) and variegate porphyria (VP), but also in hereditary coproporphyria (HCP) and hereditary porphyria cutanea tarda (PCT‐H). Examples from the Danish material are given. The findings indicate that the subdivisions between ...