Various types, all accumulate toxic levels of porphyrins in body but variable presentations.

Variegate Porphyria

The one associated with Dutch or Afrikaner (white South African) genetics. PPOX mutations

Specific symptoms can vary greatly; autosomal dominant so variable penetrance (can even be asymptomatic). Typically:

• Photosensitivity
• GI symptoms including abdominal pain, nausea, vomiting, constipation
• Neurological: extremity pain, weakness, anxiety, restlessness and convulsions
• Acute attacks, usually severe abdominal pain (can be chest), vomiting first. Then confusion, convulsions, and muscular weakness. Lasts days or weeks. Recovery from severe paralysis can be slow.

Triggers for acute attacks include drugs, hormones (especially progesterone), lack of carbohydrate intake, alcohol, and stress.

Diagnosis is by porphyrins in plasma, urine and stool.

Treatment now available – Panhematin is used to halt acute attacks and prevent attacks, Givlaari just for prevention.