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 560 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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Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients.
 

Author(s): M S Farrag, I Mikula, E Richard, V Saudek, H De Verneuil, P Martásek

Journal: Folia Biol. (Praha). 2015 ;61(6):219-26.

 

Porphyrias are metabolic disorders resulting from mutations in haem biosynthetic pathway genes. Hepatoerythropoietic porphyria (HEP) is a rare type of porphyria caused by the deficiency of the fifth enzyme (uroporphyrinogen decarboxylase, UROD) in this pathway. The defect in the enzymatic ...

Last Updated: 21 Jan 2016

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Methotrexate and actinomycin D chemotherapy in a patient with porphyria: a case report.
 

Author(s): Yukiko Mikami, Tomonori Nagai, Yousuke Gomi, Yasushi Takai, Masahiro Saito, Kazunori Baba, Hiroyuki Seki

Journal:

 

Despite their broadly recommended use as chemotherapeutic agents, the porphyrogenicity of methotrexate and actinomycin D have not been confirmed. Accordingly, it is not known whether these agents are safe for use in patients with porphyria.

Last Updated: 19 Jan 2016

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

Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
 

Author(s): Vaithamanithi-Mudumbai Sadagopa Ramanujam, Karl Elmo Anderson

Journal:

 

Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemicals builds up depends on the type of porphyria. ...

Last Updated: 3 Jul 2015

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)
 

Status: Recruiting

Condition Summary: Acute Intermittent Porphyria

 

Last Updated: 28 Oct 2016

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Longitudinal Study of the Porphyrias
 

Status: Recruiting

Condition Summary: Acute Porphyrias; Cutaneous Porphyrias

 

Last Updated: 26 Jul 2016

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