Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation.

Symptoms possibly attributable to porphyria have since been recognised in 2 of these family members. Shortly after starting the oral contraceptive pill (a known precipitant of porphyria), a 23 years old female developed abdominal pain, without associated neuropsychiatric symptoms. This episode resolved following discontinuation of the likely offending medication and she has been well since. A second female, aged 16 years, required hospital admission with abdominal pain, without associated neurological or psychiatric symptoms. This episode resolved after instituting a course of haem arginate. Urinary ALA and PBG subsequently confirmed acute porphyria in both. Including the index case, 5 patients in the paediatric age range have been diagnosed with porphyria, 2 have had episodes of acute porphyria. Due to the falling age of menarche 3 (menarche is a recognised precipitant of porphyria) we suggest that more patients with acute porphyria can be expected to present to paediatricians. Family screening and diagnosis allowed timely medical treatment of 2 episodes of acute porphyria in these kindred. Thus unnecessary, expensive, prolonged investigations and hospital admission were prevented, and treatment was started before the patients‚Ao developed any neurological effects. Family screening should be part of the routine management of any individual diagnosed with porphyria.