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Variegate porphyria – causes, side effects and treatments at

Friday, July 27, 2018 by

A subtype of porphyria, variegate porphyria is an uncommon genetic disorder. Patients with the condition develop skin photosensitivity (sensitivity to light), systemic symptoms due to neurological problems, or both.

The disorder is caused by a gene mutation of the protoporphyrinogen oxidase enzyme protein (PPOX). PPOX is an enzyme that is crucial to the chemical process that leads to heme production.

Heme is the red pigment in blood cells. It is a critical component of hemoglobin, the molecule that carries oxygen in the blood.

Patients with variegate porphyria have PPOX enzyme activity that is reduced by half and they suffer from a build-up of toxic porphyrins, like uroporphyrin and coproporphyrin. This build-up causes blistering.

Variegate porphyria is also called mixed hepatic porphyria, mixed porphyria, and South African genetic porphyria.

Known symptoms of variegate porphyria

In most patients with variegate porphyria, the symptoms often manifest following exposure to non-genetic factors like certain hormones, dieting/fasting, specific drugs, and stress. These factors increase the demand for heme and the enzymes that produce the pigment.

The symptoms of variegate porphyria usually include:

  • Diarrhea or constipation
  • Jaundice/eyes and skin turning yellow
  • Neurovisceral crises (Occurs when the nervous system of the internal organs is involved)
  • Stomach pain and cramping abdominal pain
  • Urine may turn reddish when exposed to sunlight (This is resolved after treatment, or when the symptoms go away)
  • Urine retention

Patients may also have light-sensitive skin, which can cause the following symptoms after exposure to direct sunlight:

  • Blister formation and skin rashes
  • Chronic skin conditions such as abnormal pigmentation/change in color, excessive hair growth, and thickened skin
  • Skin inflammation with burning sensation
  • Skin may erode and peel
  • Skin may turn fragile and weak

Neurological symptoms can include:

  • Muscular pain and weak muscles/lethargy
  • Peripheral neuropathy
  • Seizures (in some cases)
  • When the respiratory muscles are affected, a patient may have difficulty breathing

Psychiatric symptoms can include:

  • Change in sensation
  • Confusion
  • Hallucinating

Risk factors for variegate porphyria may include:

  • Being of Caucasian descent in South Africa or being of Finnish descent
  • Having a family history of variegate porphyria

Body systems harmed by variegate porphyria

Variegate porphyria may cause the following complications:

  • Coma
  • Gallstones
  • Liver disease and failure
  • Paralysis
  • Respiratory failure
  • Skin scarring

Food items or nutrients that may prevent variegate porphyria

If you have variegate porphyria, consume a variety of different foods that contain either simple or complex carbohydrates. The simple carbohydrates will immediately enter the bloodstream and this can help reduce porphyrin production in the body. Sources include fruit, honey, syrup, and other sugary foods.

Meanwhile, complex carbohydrates will supply your body with a time-released stable supply of glucose. Sources include beans, oats, and whole-grain breads and pasta.

Follow a diet that contains at least 60 percent of carbohydrate-rich foods. You must also consume at least 40 grams (g) to 50 g of fiber every day. Limit your intake of protein because excessive protein can trigger the symptoms of the condition.

Treatments, management plans for variegate porphyria

There is no cure for variegate porphyria and treatment aims to control the symptoms of the condition.

Treatments for hepatic disease include:

  • Beta-blockers to manage blood pressure.
  • Following a high-carbohydrate diet to aid recovery.
  • Hematin to shorten attacks.

Treatments for erythropoietic disease include:

  • Bone marrow transplant.
  • Blood transfusions.
  • Iron supplements for anemia.

Where to learn more


A subtype of porphyria, variegate porphyria is an uncommon genetic disorder. Patients with the condition develop skin photosensitivity/reaction to light, systemic symptoms due to neurological problems, or both.

The symptoms of variegate porphyria usually include diarrhea or constipation, jaundice, and neurovisceral crises.

Variegate porphyria may cause complications like coma, gallstones, liver disease and failure, and paralysis.

There is no cure for variegate porphyria. Treatment aims to control the symptoms of the condition. This may include beta-blockers, a high-carbohydrate diet, and hematin.

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