Porphyria variegata

Classification according to ICD-10
E80	Disorders of the porphyrin and bilirubin metabolism
E80.2	Other porphyria
ICD-10 online (WHO version 2019)

The variegate porphyria (PV) is an acute Porphyrieform with mainly neuro visceral symptoms and occasional intolerance reactions against sunlight . A particularly large number of cases occur in South Africa ( founder mutation ).

PV is a congenital disorder of the formation of the red blood pigment heme , caused by the failure of one of the two genes for the enzyme protoporphyrinogen oxidase (PPO). The accumulation of precursors in the liver leads to sudden attacks, comparable to the symptoms of acute intermittent porphyria (AIP) . The skin symptoms are easily confused with those of hereditary coproporphyria (HCP). The triggering factors for an attack are especially medication, but also stress , alcohol consumption , hormones and hunger.

The treatment is comparable to acute intermittent porphyria . However , patients with porphyria variegata do not respond to phlebotomy and chloroquine administration.

Web links