Variegate Porphyria

Variegate Porphyria (VP) is an inherited metabolic disorder caused by defects in the enzymes that make heme, a critical component of hemoglobin and many of the body's enzymes. VP is part of a group of disorders called porphyrias, which affect the production of heme and other compounds from heme metabolism. VP occurs in different parts of the world but is most common in parts of Africa, the Middle East, and Northern Europe. It is estimated that up to one in 26,000 people worldwide are affected by VP.

People with VP experience episodes of abdominal pain, confusion, extreme nerve sensitivity, seizures, and/or psychiatric problems. VP usually affects the skin, causing photosensitivity and scarring, especially on sun-exposed areas. Photosensitivity often causes burning, intense itching, and blistering of the skin.

Diagnosis of VP is based on the results of tests that measure levels of certain porphyrins in the body. Treatment of VP involves avoiding triggers such as sun exposure, stress, certain foods, and medications that can trigger VP attacks or worsen symptoms. Sun avoidance is critical in the management of VP and may include wearing protective clothing, using sunscreen, and staying out of direct sunlight. Additional treatments may include medications, and other therapies such as diet and lifestyle modifications.

Symptoms of Variegate Porphyria

The symptoms of VP vary among individuals and can include the following:

Severe abdominal pain
Confusion or mental issues
Nerve sensitivity
Seizures
Psychiatric problems
Skin changes (inflammation, blistering, and scars)
Photosensitivity
Fatigue

Causes of Variegate Porphyria

Variegate Porphyria is caused by genetic mutations in the HMBS gene, which is responsible for making the enzyme delta-aminolevulinate synthase (ALAS). Mutations in the gene alter the activity of this enzyme, reducing its ability to make heme. Reduced levels of heme result in a buildup of porphyrins and other compounds that cause symptoms of VP.

Treatment for Variegate Porphyria

The primary goal of treatment of VP is to reduce the frequency of attacks and severity of symptoms. Treatment is tailored to the individual and may include the following:

Avoiding triggers such as sun exposure, stress, certain foods and medications. Sun avoidance is key in the management of VP and may include wearing protective clothing, using sunscreen, and avoiding direct sunlight.
Medications to reduce pain and diarrhea such as antibiotics, anticonvulsants, or antispasmodics.
Dietary and lifestyle modifications to reduce stress and maintain a healthy weight.