Safe use of perampanel in a carrier of variegate porphyria.

Safe usage of isotretinoin in a woman with latent acute intermittent porphyria.

Best practice guidelines on clinical management of acute attacks of porphyria and their complications.

The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porphyria may occur in acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Aminolaevulinic acid dehydratase d...

A Case of Variegate Porphyria in Association With Coeliac Disease and Bisphosphonate Associated Dental Osteonecrosis

UNLABELLED This case describes an older patient with a rare diagnosis of variegate porphyria presenting with acute abdominal pains and bloating, intermittent loose stools and jaw pains following surgical repair of an osteoporotic hip fracture. She was noted to have acute hyponatraemia. All the abdominal symptoms and the hyponatraemia were initially attributed to an acute episode of variegate po...

Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.

Variegate porphyria is an autosomal dominant disorder of heme metabolism which results from decreased activity of the enzyme protoporphyrinogen oxidase. Clinically, the disease manifests postpubertally and is characterized by photocutaneous sensitivity and/or acute neurovisceral crises. However, in homozygous variegate porphyria, onset of the disease usually occurs in infancy with severe skin m...

Treatment of seizures in acute intermittent porphyria: safety and efficacy of gabapentin

Treatment of seizures in acute intermittent porphyria represents a therapeutic dilemma. Patients needing chronic therapy often experience acute porphyric attacks due to increased hepatic metabolism induced by the antiepileptic drugs themselves. Gabapentin is a new antiepileptic drug not appreciably metabolized by the liver in humans, and it appears to be safe and effective in the maintenance th...