Porphyria

Common Name(s)

Porphyria

Porphyria is a type of disorder in which there is accumulation of normal body chemicals known as porphyrins. The accumulation is caused by the body’s inability to convert porphyrins into another biological molecule known as heme. Heme is mainly produced in the bone marrow and liver, and is required for red blood cells in the body. There are 8 different types of porphyria.

The symptoms of porphyrias are nonspecific, meaning they are not unique to one condition, making the initial diagnosis difficult. Symptoms often include reddish urine that becomes darker upon exposure to light, nervous system effects, and skin disorders such as burning, blistering and scarring in areas exposed to sunlight. Medical assistance should be used if there is severe abdominal pain, skin changes such as burning pain, blisters, and severe swelling, or red or brown urine.

Porphyria is usually inherited in an autosomal recessive manner, which means that inheriting one affected copy of the gene (allele) will not cause symptoms of the disease. In order to experience symptoms, an individual must inherit two affected copies of the gene, one from the mother and one from the father. Environmental triggers may make the symptoms of porphyria more apparent. Common triggers include exposure to drugs or chemicals, poor diet, smoking, stress, liver disease, menstrual hormones, alcohol use, sun exposure, or excess iron intake.

There is currently no cure for porphyrias, but treatments are used to alleviate symptoms. The delivery of nutrients and fluids are important to treat the associated dehydration. Medications can be used to control the disease, such as to absorb porphyrins so they cannot cause symptoms. Beta carotene can decrease sensitivity to sunlight, while vitamin D can be given to individuals with decreased sun exposure. Talk to your doctor about the most current treatment options. Support groups are also available for more information.

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Condition Specific Organizations

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

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

A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations.
 

Author(s): Mishra Debjani, Mukhopadhyay Somnath

Journal: Middle East Afr J Ophthalmol. ;23(1):160-2.

 

A 27-year-old male patient was presented with foreign body sensation in both the eyes for 2 years duration and blisters followed by scarring and pigmentation in the photo-exposed areas of the body over the previous 12 years. His urine was reddish colored for the previous year. On ...

Last Updated: 9 Mar 2016

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A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.
 

Author(s): Huang Jiao, Zhang Xianfeng, Han Hui, , Zhan Yuhong, Zhang Chu

Journal: J Pak Med Assoc. 2015 Aug;65(8):898-900.

 

Porphyria is a group of disorders caused by the accumulation of porphyrin and porphyrin precursors due to the abnormalities in certain enzymes that normally participate in the production of haem. We report a case of a woman with severe menstruation-related abdominal pain, hyponatraemia, ...

Last Updated: 3 Aug 2015

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Anthropometric and Quality-of-Life Parameters in Acute Intermittent Porphyria Patients.
 

Author(s): Antonia M Jiménez-Monreal, M Antonia Murcia, Victoria Gómez-Murcia, Maria Del Mar Bibiloni, Antoni Pons, Josep A Tur, Magdalena Martínez-Tomé

Journal: Medicine (Baltimore). 2015 Jul;94(30):e1023.

 

The porphyrias are a group of rare metabolic disorders. The incidence and prevalence are low because the acute intermittent porphyria (AIP) is rare. Our aim was to assess the use of anthropometric and quality-of-life parameters in porphyric patients in order to identify predictor ...

Last Updated: 30 Jul 2015

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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 25 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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Role of genetic testing in the management of patients with inherited porphyria and their families.
 

Author(s): S D Whatley, M N Badminton

Journal: Ann. Clin. Biochem.. 2013 May;50(Pt 3):204-16.

 

The porphyrias are a group of mainly inherited metabolic conditions that result from partial deficiency of individual enzymes in the haem biosynthesis pathway. Clinical presentation is either with acute neurovisceral attacks, skin photosensitivity or both, and is due to overproduction ...

Last Updated: 13 Jun 2013

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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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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: 26 Jul 2016

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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: 5 Feb 2016

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