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Porphyria

What are the symptoms?

The neurovisceral manifestations constitute the 'acute' porphyric attack. Characteristically these attacks consist of clinical episodes of abdominal pain, limb pain, vomiting, constipation, seizures or rarely diarrhoea and the intermittent appearance of dark urine which may on occasion go brown, pink, port-wine or burgundy-coloured or occasionally the colour of blackcurrant juice - particularly on standing in the light. The urinary changes are by no means inevitable. Very severe attacks may be accompanied by paralysis of the muscles of breathing and swallowing as well as limb paralysis and severe neuralgic (nerve) pain.

Occasionally psychological manifestations and seizures occur during the course of acute attacks of porphyria which are accompanied by changes in the blood salt composition (low sodium - hyponatraemia) and high blood pressure (hypertension) that can be severe. Life-threatening acute porphyric attacks may occur.

Acute attacks are usually precipitated by starvation, injury (including surgery with or without anaesthetics), intercurrent illnesses and fevers and hormonal changes (particularly sex hormone changes in women). Alcohol and many hundreds of drugs prescribed for good medical reasons often trigger porphyric attacks and all doctors who prescribe for patients with porphyria need to refer carefully to recommended lists of drugs before prescribing safely. Such lists of drugs are present in standard medical reference books and an abbreviated version is available in the British National Formulary.

The consumption of alcohol as well as herbal remedies and simple pain-relieving drugs available across the counter may also precipitate acute porphyric attacks.

Individual Disorders

Cutaneous porphyrias

  1. Porphyria cutanea tarda (PCT)
  2. Congenital porphyria (a severe disorder that usually presents in infancy and associated with extreme light-induced skin and tissue damage)
  3. Erythropoietic protoporphyria (very rarely complicated by liver disease and obstructed bile flow)
  4. Variegate porphyria (also accompanied by acute attacks)
  5. Hereditary coproporphyria (acute attacks also)

Skin (cutaneous porphyrias): sun screens and light avoidance; beta-carotene may benefit erythropoietic protoporphyria. Bone marrow transplantation may be indicated for severe congenital porphyria.

Acute Porphyrias

  1. ALA dehydratase deficiency
  2. Acute intermittent porphyria
  3. Variegate porphyria (skin reactions occur)
  4. Hereditary coproporphyria (skin reactions occur)

View Background Background  |  How is it treated? View How is it treated?

Medical text written February 2001 by Professor T Cox. Last updated December 2005 by Professor T Cox, Professor of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK.

 

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