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 bodyÕs 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.

 

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.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 410 free, full-text research articles on human participants. First 3 results:

Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria.
 

Author(s): Maşallah Baran, Kayı Eliaçık, Ismail Kurt, Ali Kanık, Neslihan Zengin, Ali Rahmi Bakiler

Journal: Turk. J. Pediatr.. ;55(2):218-21.

 

Congenital erythropoietic porphyria is a rare autosomal recessive disorder of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all ...

Last Updated: 6 Nov 2013

Go To URL
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.
 

Author(s): Jean-Marc Blouin, Yann Duchartre, Pierre Costet, Magalie Lalanne, Cécile Ged, Ana Lain, Oscar Millet, Hubert de Verneuil, Emmanuel Richard

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Nov;110(45):18238-43.

 

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in massive porphyrin accumulation in blood cells, which is responsible for hemolytic anemia and skin photosensitivity. Among ...

Last Updated: 6 Nov 2013

Go To URL
Variegate porphyria complicated by systemic AA amyloidosis: a case report.
 

Author(s): Yoshiki Tsuchiya, Junichi Hoshino, Tatsuya Suwabe, Keiichi Sumida, Rikako Hiramatsu, Koki Mise, Eiko Hasegawa, Masayuki Yamanouchi, Noriko Hayami, Naoki Sawa, Kenji Arizono, Shigeko Hara, Kenmei Takaichi, Takeshi Fujii, Yoshifumi Ubara

Journal: Amyloid. 2013 Dec;20(4):272-4.

 

We report a Japanese woman with variegate porphyria accompanied by amyloid A (AA) amyloidosis. Arthropathy involving multiple joints occurred at 35 years old and persisted. C-reactive protein was 4.0 mg/dL, but rheumatoid factor was negative. Radiographs did not reveal any loss or ...

Last Updated: 19 Nov 2013

Go To URL

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 23 free, full-text review articles on human participants. First 3 results:

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

Go To URL
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

Go To URL
[Porphyria cutanea tarda, hemosiderosis and hepatocellular carcinoma: report of one case].
 

Author(s): Carolina Whittle, Juan Hepp, Rodolfo Armas, Marcela Schultz

Journal: Rev Med Chil. 2010 May;138(5):581-5.

 

Porphyria cutanea tarda (PCT) is a hereditary or acquired disease. It can be unleashed by iron overload, alcohol, estrogens and other conditions. In these patients, hepatic involvement can be associated to cirrhosis, iron overload or C and B viral infections, that are predisposing ...

Last Updated: 29 Jul 2010

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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: 25 Feb 2014

Go to URL
Clinical Diagnosis of Acute Porphyria
 

Status: Recruiting

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

 

Last Updated: 23 Sep 2013

Go to URL
Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria
 

Status: Recruiting

Condition Summary: Acute Porphyrias

 

Last Updated: 30 Jun 2014

Go to URL