Porphyria

Common Name(s)

Porphyria

The porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the bodyƕs organs. Major types include ALAD deficiency porphyria , acute intermittent porphyria, congenital erythropoietic porphyria , erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. The most common type of porphyria is porphyria cutanea tarda. Some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. Other symptoms may also include pain, numbness or tingling, vomiting, constipation and intellectual disability. There is no known cure for porphyria, but the multiple forms have different courses of treatment.

Most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. Porphyria can also be caused by environmental factors such as infections or exposures to certain prescription drugs. This type of porphyria is called sporadic or acquired porphyria.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Porphyria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Porphyria" returned 405 free, full-text research articles on human participants. First 3 results:

Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.
 

Author(s): Urszula Szlendak, Agnieszka Lipniacka, Jolanta Bianketti, Maria Podolak-Dawidziak, Ksenia Bykowska

Journal: Adv Clin Exp Med. ;24(1):63-8.

 

Acute intermittent porphyria (AIP) is an metabolic disorder characterized by a partial deficiency of the porphobilinogen deaminase, the enzyme of heme biosynthesis. The metabolic defect in AIP involves an approximately half-normal activity of porphobilinogen deaminase (PBGD, EC 4.3.1.8), ...

Last Updated: 30 Apr 2015

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Porphyria cutanea tarda and Sjogren's syndrome.
 

Author(s): Su Fang, XiaoJie Sun, ZanFeng Wang, DanYang Song, TieNan Li

Journal: An Bras Dermatol. ;89(4):689-91.

 

Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges. We report a case of porphyria cutanea ...

Last Updated: 24 Jul 2014

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Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study.
 

Author(s): Oscar J Pozo, Josep Marcos, Andreu Fabregat, Rosa Ventura, Gregori Casals, Paula Aguilera, Jordi Segura, Jordi To-Figueras

Journal:

 

Acute Intermittent Porphyria (AIP) is a rare disease that results from a deficiency of hydroxymethylbilane synthase, the third enzyme of the heme biosynthetic pathway. AIP carriers are at risk of presenting acute life-threatening neurovisceral attacks. The disease induces overproduction ...

Last Updated: 30 Apr 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Porphyria" returned 24 free, full-text review articles on human participants. First 3 results:

Liver transplantation in the management of porphyria.
 

Author(s): Ashwani K Singal, Charles Parker, Christine Bowden, Manish Thapar, Lawrence Liu, Brendan M McGuire

Journal: Hepatology. 2014 Sep;60(3):1082-9.

 

Porphyrias are a group of eight metabolic disorders, each resulting from a mutation that affects an enzyme of the heme biosynthetic pathway. Porphyrias are classified as hepatic or erythropoietic, depending upon the site where the gene defect is predominantly expressed. Clinical phenotypes ...

Last Updated: 26 Aug 2014

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Increased photosensitivity? Case report of porphyria cutanea tarda associated with systemic lupus erythematosus.
 

Author(s): Scheila Fritsch, Adma Silva de Lima Wojcik, Lilian Schade, Milton Marcio Machota Junior, Fabiane Mulinari Brenner, Eduardo dos Santos Paiva

Journal: Rev Bras Reumatol. 2012 Dec;52(6):968-70.

 

The association of porphyria cutanea tarda (PCT) and systemic lupus erythematosus (SLE) is rare. Systemic lupus erythematosus, of complex pathophysiology and pleomorphic clinical manifestations, is similar to PCT regarding photosensitivity. One finding that can differentiate both ...

Last Updated: 11 Dec 2012

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Hepatitis C, porphyria cutanea tarda and liver iron: an update.
 

Author(s): F Ryan Caballes, Hossein Sendi, Herbert L Bonkovsky

Journal: Liver Int.. 2012 Jul;32(6):880-93.

 

Porphyria cutanea tarda (PCT) is the most common form of porphyria across the world. Unlike other forms of porphyria, which are inborn errors of metabolism, PCT is usually an acquired liver disease caused by exogenous factors, chief among which are excess alcohol intake, iron overload, ...

Last Updated: 7 Jun 2012

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Longitudinal Study of the Porphyrias
 

Status: Recruiting

Condition Summary: Acute Porphyrias; Cutaneous Porphyrias

 

Last Updated: 6 May 2015

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Clinical Diagnosis of Acute Porphyria
 

Status: Recruiting

Condition Summary: Hereditary Coproporphyria (HCP); Acute Intermittent Porphyria (AIP); Variegate Porphyria (VP)

 

Last Updated: 23 Sep 2013

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Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria
 

Status: Recruiting

Condition Summary: Acute Porphyrias

 

Last Updated: 15 Jan 2015

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