Variegate Porphyria

Variegate porphyria is an autosomal-dominant protoporphyrinogen-oxidase (PPOX) deficiency combining acute neurovisceral attacks (like AIP) and cutaneous photosensitivity/skin blistering (like PCT). It is common in South Africa. Attacks are precipitated by drugs/alcohol/fasting. Treatment: hemin/glucose for acute attacks, avoid triggers, sun protection.

Common Symptoms

Acute abdominal pain/neuropsychiatric attacks; photosensitivity; skin blistering/fragility; dark urine

Causes and Pathogenesis

PPOX deficiency causes accumulation of porphyrin precursors (neurotoxic) and protoporphyrins (photosensitizing skin).

Treatment

Hemin/glucose for acute attacks; avoid triggers; sun protection; manage skin lesions

Preventive Measures

Avoid precipitant drugs/alcohol/fasting; sun protection; genetic counseling (South African).

Department to Visit

It is recommended to visit the Internal Medicine department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.