A neuropsychiatric and genetical investigation of acute intermittent porphyria / by Lennart Wetterberg.

  • Wetterberg, Lennart.
Date:
1967
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: A neuropsychiatric and genetical investigation of acute intermittent porphyria / by Lennart Wetterberg. Source: Wellcome Collection.

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    INTRODUCTION Acute intermittent porphyria (AIP)^ is characterized by variable clinical symptoms, mainly gastro-intestinal and neuro-psychiatric, and the occa¬ sional appearance of red urine which becomes dark on standing (Wal¬ denstrom 1937). The most conspicuous gastro-intestinal disorders are pain of colic type, vomiting, constipation and diarrhea. The neurological symptoms vary but pareses of irregular types are common. Anxiety, con¬ fusion, hallucinations and sleep disturbances may lead to admission to a psychiatric hospital where the patient, if the true nature of his condi¬ tion is not understood, may be given barbiturates which may cause alarm¬ ing symptoms, such as respiratory paralysis. The first clinical mani¬ festation of this disease occurs usually between 20 and 40 years of age. Females are more often affected than males in a ratio 3: 2. The psychiatric manifestations occur only in some patients with acute intermittent porphyria but not in others. The association between AIP and mental illness might alternatively be explained as ( 1 ) due to random combinations of AIP and mainly non-genetical conditions, (2) combina¬ tions of AIP and independent genetical psychiatric conditions, or (3) the consequence of the occurrence of AIP having somatic as well as psychia¬ tric manifestations. These tentative explanations, which do not cover all possible alterna¬ tives, were taken as working hypotheses. To test these different hypotheses a genetical investigation of a sample of Swedish families with AIP was carried out. ^ Abbreviations used: AIP, acute intermittent porphyria; ALA, á-aminolaevulic acid; PBG, porphobilinogen. 8