Variegate porphyria

What causes variegate porphyria?

Variegate porphyria is caused by mutations in the PPOX _gene. The _PPOX gene is responsible for making an enzyme known as protoporphyrinogen oxidase. Mutations in PPOX reduce the activity of that enzyme and this allows compounds called porphyrin precursors to build up in the body. These compounds are formed during the normal process of heme production, but reduced activity of protoporphyrinogen oxidase allows them to accumulate to toxic levels. The acute attacks seen in variegate porphyria can be brought on by a number of different factors, including certain medications, hormonal changes in the body, alcohol, dieting and other factors that have not been identified.

Last updated on 05-01-20

How is variegate porphyria diagnosed?

The diagnosis of variegate porphyria is suspected based on the clinical findings. Once a person is suspected of having variegate porphyria, additional testing including urine, stool and blood tests are done. The diagnosis of variegate porphyria is made by finding an excess of the compounds, coproporphyrin in urine and both coproporphyrin and protoporphyrin in stool. The most sensitive screening test is a plasma porphyrin assay. Genetic testing of PPOX gene can be used to confirm the diagnosis as well, and can be helpful for telling the difference between different types of porphyria.

Last updated on 05-01-20

How is variegate porphyria inherited?

Variegate porphyria is inherited in an autosomal dominant manner, which means one copy of the PPOX gene in each cell is mutated. All individuals inherit two copies of each gene. In autosomal dominant conditions, an individual has a disease-causing mutation in only one copy of the gene that causes the person to have the disease. The mutation can be inherited from either parent. There is nothing either parent can do, before or during a pregnancy, to cause a child to have this.

Each child of an individual with variegate porphyria has a 50% or 1 in 2 chance of inheriting the mutation.Offspring who inherit the PPOX mutation may be more or less severely affected than their parent. This single mutation reduces the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria.Not all people who inherit a PPOX gene mutation will develop the symptoms of variegate porphyria.

Last updated on 05-01-20

What is the long-term outlook for people with variegate porphyria?

The long term outlook for people with variegate porphyria varies with the severity of the symptoms. With early diagnosis and treatment, variegate porphyria is rarely life threatening and it doesn’t usually get worse with time. People with this condition are at increased risk for liver cancer and kidney disease.

Last updated on 05-01-20

How might variegate porphyria be treated?

Hospitalization is often necessary for acute attacks to help manage the pain and other neurological symptoms. Medications for pain, nausea and vomiting, and close observation are generally required. Mild attacks may be managed by giving the person a large amount of glucose or other carbohydrates. More severe attacks are treated with hemin, an injection of the heme protein, to help stop the attack. The response to heme therapy is best if started early in an attack. Heme must be administered by vein (intravenously). Panhematin® is the only commercially available heme therapy for treatment and prevention of acute porphyria attacks in the United States. Heme arginate, which is marketed in some other countries, is another type of heme.

Attacks can also be avoided by avoiding the ‘trigger’ for the attack. The trigger can be different for different people. Triggers include certain medications, alcohol, dieting, and hormonal changes in the body. Sometimes, however, the trigger is unknown. Avoiding excess sun exposure can reduce the blisters and skin lesions.

Last updated on 05-01-20

Management Guidelines

Porphyria Disease Management

The American Porphyria Foundation offers a document that includes information about porphyria, types, testing, and treatment with Panhematin®. Click the "document" link above to view these guidelines.

Last updated on 04-27-20

Name: American Porphyria Foundation 4915 St. Elmo Avenue Suite 105
Bethesda, MD, 20814, United States
Phone: +1-301-347-7166 Toll Free: 1-866-273-3635 Fax : +1-301-312-8719 Email: Url:
Name: American Association for the Study of Liver Diseases 1001 North Fairfax, 4th floor
Alexandria, VA, 22314, United States
Phone: 703–299–9766 Fax : 703–299–9622 Email: Url:
Name: American Liver Foundation 39 Broadway, Suite 2700
New York, NY, 10006, United States
Phone: +1-212-668-1000 Toll Free: +1-800-465-4837 (Helpline) Email: Url:
Name: European Porphyria Network Email: Url:
Name: RDCRN- Porphyria Consortium Contact Registry RDCRN Porphyria Consortium Contact Registry Email: Url:
Variegate Porphyria National Organization for Rare Disorders (NORD). Updated 2017; Reference Link Porphyria Genetics Home Reference (GHR). July, 2009; Reference Link Singal AK, Anderson KR. Variegate Porphyria GeneReviews. Feb 2013; Reference Link Hift RJ, Peters TJ, Meissner PN. A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the “Royal Malady” J Clin Path. Mar 2012; 65(3). 200-205. Reference Link Porphyria Variegata Orphanet. Feb 2009; Reference Link

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