Variegate Porphyria (VP)

Download VP Overview

VP is caused by changes in the PPOX gene, which controls the PPOX enzyme in the heme pathway. Without enough of this enzyme, there is a buildup of compounds called ALA and PBG, as well as other porphyrins. Most people (>90%) with changes in the PPOX gene never develop acute attacks or skin symptoms.

The acute attack symptoms of VP are the same as AIP, including the triggers for acute attacks. However, people with VP can also have blistering on their skin in areas that are exposed to sunlight. Other skin symptoms include fragile skin and milia (tiny, white bumps or cysts).

Someone with VP can have acute attacks alone, with blistering skin symptoms, or have skin symptoms alone.

Description

The long-term complications of VP are the same as AIP. The skin symptoms may result in scarring.

Treatments

The treatments for acute attacks in VP are the same with AIP. People with blistering from sun exposure need to protect themselves from sunlight by using sun protective clothing and avoiding prolonged sun exposure.

Management

• Pain Management
  Acute attacks can be very severe requiring strong pain medications to help relieve the pain. These are generally given during hospitalization.
• Things to monitor long-term
  People with VP, even those who do not have acute attacks, should see a porphyria specialist at least once a year for regular follow-up to monitor for the long-term complications. People who have frequent attacks or skin symptoms may need to see a specialist more regularly.
• Medications
  Avoiding known triggers of acute attacks is important. There is an online drug database to check which medications may be unsafe for people with VP.
• Nutrition
  People with VP should avoid dieting or fasting, and maintain a healthy, balanced diet.

Inheritance

VP is an autosomal dominant condition. Autosomal means that the defect is not on the chromosomes that determine sex, and dominant means that you only need to inherit one changed gene to have the disease.

Most VP patients have one changed copy of the PPOX gene and one normal copy. It is random which of these two copies are inherited. Each child of someone with VP will have a 50% chance of inheriting the changed copy and 50% chance of inheriting the normal copy.