Variegate porphyria

Title

Other Names:

Porphyria variegate; VP; Porphyria, South African type; Porphyria variegate; VP; Porphyria, South African type; Protoporphyrinogen oxidase deficiency; PPOX deficiency See More

Categories:

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Metabolic disorders; Congenital and Genetic Diseases; Kidney and Urinary Diseases; Metabolic disorders; Nervous System Diseases; RDCRN; Skin Diseases See More

This disease is grouped under:

Porphyria

Summary Summary

Variegate porphyria is a form of hepatic porphyria most common in the white South African population. This autosomal dominant disorder may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity.^[1]^[2] The condition is caused by mutations in the PPOX gene which lead to deficiency of the enzyme protoporphyrinogen oxidase.^[3] Acute attacks are managed and may be prevented as in acute intermittent porphyria.^[1]

Last updated: 7/19/2010

Symptoms Symptoms

Episodes of acute variegate porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. Individuals with variegate porphyria may also develop cutaneous symptoms, including skin photosensitivity.^[3]

Last updated: 7/19/2010

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Hypopigmented skin patches	Patchy loss of skin color	0001053
Scarring		0100699
Thin skin		0000963
30%-79% of people have these symptoms
Abnormal blistering of the skin	Blistering, generalized Blisters [ more ]	0008066
Cutaneous photosensitivity	Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ]	0000992
5%-29% of people have these symptoms
Abdominal pain	Pain in stomach Stomach pain [ more ]	0002027
Anxiety	Excessive, persistent worry and fear	0000739
Confusion	Disorientation Easily confused Mental disorientation [ more ]	0001289
Constipation		0002019
Depressivity	Depression	0000716
Motor polyneuropathy		0007178
Muscle weakness	Muscular weakness	0001324
Nausea and vomiting		0002017
Seizures	Seizure	0001250
Visual hallucinations		0002367
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Paralysis	Inability to move	0003470
Peripheral neuropathy		0009830
Porphyrinuria		0010473
Psychosis		0000709
Tachycardia	Fast heart rate Heart racing Racing heart [ more ]	0001649
Vomiting	Throwing up	0002013

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Variegate porphyria is caused by mutations in the PPOX gene.^[3] Mutations in the PPOX gene reduce the activity of protoporphyrinogen oxidase, allowing 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. More than 130 mutations in the PPOX gene have been identified in people with variegate porphyria. A particular PPOX gene mutation is found in about 95 percent of South African families with the disorder.^[4]

Nongenetic factors such as certain drugs, alcohol, dieting, as well as other genetic factors that have not been identified, also contribute to the characteristic features of variegate porphyria.^[4]

Last updated: 7/19/2010

Inheritance Inheritance

Variegate porphyria is inherited in an autosomal dominant manner, which means one copy of the gene in each cell is mutated. This single mutation reduces the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria.^[1]^[3]

Last updated: 12/12/2017

Diagnosis Diagnosis

The diagnosis of variegate porphyria is made by finding excess coproporphyrin in urine and both coproporphyrin and protoporphyrin in feces.^[1]^[2] The most sensitive screening test is probably a plasma porphyrin assay.^[1]

Last updated: 7/19/2010

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Acute attacks are managed and may be prevented as in acute intermittent porphyria.^[1]^[2] Hospitalization is often necessary for acute attacks. Medications for pain, nausea and vomiting, and close observation are generally required. A high intake of glucose or other carbohydrates can help suppress disease activity and can be given by vein or by mouth. Intravenous heme therapy is more potent in suppressing disease activity. It can be started after a trial of glucose therapy. However, the response to heme therapy is best if started early in an attack. Heme must be administered by vein. Panhematin is the only commercially available heme therapy for treatment and prevention of acute porphyric attacks in the United States. Heme arginate, which is marketed in some other countries, is another preparation of heme for intravenous administration.^[5]

Last updated: 7/19/2010

Management Guidelines

Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include acute intermittent porphyria and, particularly, porphyria cutanea tarda (see these terms). The presence of a fluorometric peak (626-628 nm) in plasma is pathognomonic and allows a definitive diagnosis of variegate porphyria rather than porphyria cutanea tarda. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

The Porphyrias Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Porphyrias Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

European Porphyria Network
Website: http://porphyria.eu/en/content/home
The American Porphyria Foundation
4900 Woodway
Suite 780
Houston, TX 77056-1837
Toll-free: 866-273-3635
Telephone: 713-266-9617
E-mail: porphyrus@aol.com
Website: http://www.porphyriafoundation.com

Social Networking Websites

RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Organizations Providing General Support

American Association for the Study of Liver Diseases
1001 North Fairfax, Suite 400
Alexandria, VA 22314
Telephone: 703–299–9766
Fax: 703–299–9622
E-mail: aasld@aasld.org
Website: http://www.aasld.org/
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
Toll-free: +1-800-465-4837 (Helpline)
Telephone: +1-212-668-1000
E-mail: https://liverfoundation.org/for-patients/contact-us/
Website: https://liverfoundation.org/

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The HealthWell Foundation provides financial assistance for underinsured patients living with chronic and life-altering conditions. They offer help with drug copayments, deductibles, and health insurance premiums for patients with specific diseases. The disease fund status can change over time, so you may need to check back if funds are not currently available.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Variegate porphyria. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Variegate porphyria. Click on the link to view a sample search on this topic.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I have just had my DNA report returned to find that I am a carrier of variegate porphyia as is my daughter. We both are asymptomatic. I am not South African Dutch. How many second generation and now third generation Americans are diagnosed yearly? If I have never had symptoms (age 65), will I have symptoms? See answer

Have a question? Contact a GARD Information Specialist.