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Clinical Review Regular review

Diagnosis and management of porphyria

BMJ 2000; 320 doi: https://doi.org/10.1136/bmj.320.7250.1647 (Published 17 June 2000) Cite this as: BMJ 2000;320:1647

Rapid Response:

Porphyria

Dear Editor - I was interested to read in Thadani et al`s¹ recent
review on the diagnosis and management of porphyria that acute porphyrias
are often misdiagnosed and that they commonly present as atypical
psychiatric symptoms amongst other presentations. I was therefore hoping
that the review would provide some consideration of the nature of the
various psychiatric presentations of the disorder. Unfortunately this was
not forthcoming. I feel that this was a missed opportunity to increase
awareness amongst those who might be called on to suspect or diagnose the
disorder, whether they be physicians, surgeons, GPs or even psychiatrists.
Lishman² describes psychiatric symptoms in up to 75% of cases, sometimes
dominating the clinical picture. Such symptomatology may include
affective instability, histrionic behaviour, acute confusional states and
paranoid psychosis. Perhaps unsurprisingly the condition has often been
mis-diagnosed as personality disorder, hysteria, neurosis, depression and
even schizophrenia. Although relatively uncommon, porphyria is clearly a
condition that psychiatrists should be aware of and in addition other
doctors should be aware that the disorder often has a psychiatric
presentation. The skewed nature of the article reflects, I believe, the
lingering gulf that still exists between medics in general and
psychiatrists. It would seem that there is still much work to be done to
foster a sense of mutual trust and understanding.

Erik C. R. Milner locum consultant psychiatrist
Michael Carlisle Centre, Nether Edge Hospital, 75 Osborne Road, Sheffield,
S11 9BF.

1 Thadani H, Deacon A, Peters T. Regular review: Diagnosis and
management of porphyria. BMJ 2000;320: 1647-51.

2 Lishman W. The psychological consequences of cerebral disorder.
Third edition. Blackwell Science, 1998.

Competing interests: No competing interests

17 July 2000
Erik C R Milner