Hereditary coproporphyria

What causes hereditary coproporphyria?

Hereditary coproporphyria (HCP) is caused by a genetic change (mutation in the CPOX _gene. However, having a _CPOX gene mutation alone does not cause symptoms. Additional factors (such as hormonal changes, specific drugs, excess alcohol, fasting) are needed to trigger an attack and the appearance of symptoms. Some people with CPOX gene mutations never have symptoms of HCP.

The American Porphyria Foundation offers a drug database with safety information about the interaction of specific drugs in patients with porphyria.

Last updated on 05-01-20

How is hereditary coproporphyria diagnosed?

The diagnosis of hereditary coproporphyria (HCP) is suspected first based on the clinical signs and symptoms, usually during an acute attack. Once a person is suspected of having HCP, examination of urine, blood, and stool (fecal) samples is typically done. These lab tests are usually done at the time of the acute attack and look for elevated levels of compounds found to be associated with several different types of porphyria.

To identify the specific type of porphyria an individual has, genetic testing can be performed to look for mutations in the CPOX gene.

At least one study suggesting diagnostic criteria for the acute dominantly inherited forms of porphyria has been published.

Last updated on 05-01-20

How is hereditary coproporphyria inherited?

Hereditary coproporphyria (HCP) is inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene. In autosomal dominant conditions, having a mutation in just one copy of the CPOX gene causes the person to have HCP. The mutation can be inherited from either parent. Some people are born with hereditary coproporphyria due to a new genetic mutation (de novo) and do not have a history of this condition in their family. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the mutation and the condition. Offspring who inherit the mutation may develop HCP, although they could be more or less severely affected than their parent. Sometimes a person may have a CPOX gene mutation for HCP and show no signs or symptoms of it.

Last updated on 05-01-20

What is the long-term outlook for people with hereditary coproporphyria?

The long term outlook for people with hereditary coproporphyria (HCP) varies with the severity of the symptoms. With early diagnosis and treatment, hereditary coproporphyria is rarely life-threatening. Some people with HCP may have long-term pain and may be at increased risk for liver and kidney disease.

Last updated on 05-01-20

How many people have hereditary coproporphyria?

Hereditary coproporphyria (HCP) is rare. The exact incidence is unknown. One study suggested that about 1/5,000,000 people have HCP in Europe. Females are more commonly affected than males. Because this condition is often misdiagnosed and many people who have CPOX mutations do not have symptoms, the incidence of this condition may be higher.

Last updated on 05-01-20

How might hereditary coproporphyria be treated?

There is no specific treatment for hereditary coproporphyria (HCP). Treatment is aimed at managing the symptoms of HCP that occur during an acute attack. Hospitalization is often necessary for acute attacks, and medications for pain, nausea and vomiting, and close observation are generally required. Some attacks may be managed by giving the person a large amount of glucose or other carbohydrates. More severe attacks are treated with heme therapy, given through a vein (intravenously). Panhematin® is currently 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 therapy.

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. If the person with HCP has skin symptoms, avoiding excess sun exposure can reduce the blisters and skin lesions.

Last updated on 05-01-20

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: porphyrus@porphyriafoundation.com Url: https://porphyriafoundation.org/
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: aasld@aasld.org Url: http://www.aasld.org/
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: https://liverfoundation.org/for-patients/contact-us/ Url: https://liverfoundation.org/
Name: European Porphyria Network Email: contact@porphyria.eu Url: http://porphyria.eu/en/content/home
Tishler, Peter. Hereditary Coproporphyria National Organization for Rare Disorders (NORD). Updated 2014; Reference Link Wang B, Bissell, DM. Hereditary Coproporphyria GeneReviews. Updated Nov. 8, 2018; Reference Link Wang B, Rudnick S, Cengia B, Bonkovsky HL. Acute hepatic porphyrias: Review and recent progress Hepato Comm. Dec 20, 2018; 3(2). 193-206. Reference Link Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ, et al.. Acute hepatic porphyrias: recommendations for evaluation and long-term management Hepatology. 2017; 66. 1314-1322. Reference Link Stein PE, Badminton MN, Rees DC.. Update review of the acute porphyrias Br Jl Hemot. 2017; 176(4). 527-538. Reference Link Whatley SD, Mason NG, Woolf JR, Newcombe RG, Elder GH, Badminton MN. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene Clin Chem. 2009; 55. 1406-1414. Reference Link Elder G1, Harper P, Badminton M, Sandberg S, Deybach JC. The incidence of inherited porphyrias in Europe J Inherit Metab Dis. Sep 2013; 36(5). 849-57. Reference Link

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