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

Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center.
 

Author(s): Jing Yang, Qianlong Chen, Hang Yang, Baolai Hua, Tienan Zhu, Yongqiang Zhao, Huadong Zhu, Xuezhong Yu, Li Zhang, Zhou Zhou

Journal: Biomed Res Int. 2016 ;2016():3927635.

 

Porphyria is a group of eight metabolic disorders characterized by defects in heme biosynthesis. The presentation of porphyria is highly variable, and the symptoms are nonspecific, which accounts in part for delays in establishing a diagnosis. In this study, we report the characteristics ...

Last Updated: 27 Dec 2016

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Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient.
 

Author(s): Shinji Susa, Fumiko Sato-Monma, Kouta Ishii, Yurika Hada, Kaoru Takase, Kyoko Tada, Kiriko Wada, Wataru Kameda, Kentaro Watanabe, Toshihide Oizumi, Tamio Suzuki, Makoto Daimon, Takeo Kato

Journal: Intern. Med.. ;55(20):2965-2969.

 

Variegate porphyria (VP) is an autosomal dominant disease caused by mutations of the protoporphyrinogen oxidase (PPOX) gene. This porphyria has unique characteristics which can induce acute neurovisceral attacks and cutaneous lesions that may occur separately or together. We herin ...

Last Updated: 17 Oct 2016

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Acute intermittent porphyria exacerbation following in vitro fertilization treatment.
 

Author(s): Geok Huey New, Pei-Yang Hsu, Meng-Hsing Wu

Journal: Taiwan J Obstet Gynecol. 2016 Apr;55(2):281-4.

 

Assisted reproductive technology is commonly used for women with infertility. We report a case of acute intermittent porphyria associated with in vitro fertilization treatment.

Last Updated: 29 Apr 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 27 free, full-text review articles on human participants. First 3 results:

Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria.
 

Author(s): Urszula Szlendak, Ksenia Bykowska, Agnieszka Lipniacka

Journal: Adv Clin Exp Med. ;25(2):361-8.

 

Porphyrias are diverse disorders that arise from various inherited enzyme defects in the heme biosynthesis pathway, except for porphyria cutanea tarda (PCT), in which the enzyme deficiency in most cases is acquired. The biosynthetic blocks resulting from the defective enzymes are ...

Last Updated: 15 Sep 2016

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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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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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