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

Brain perfusion defects by SPET/CT and neurostat semi-quantitative analysis in two patients with congenital erythropoietic porphyria.
 

Author(s): Vincenzo Frusciante, Cristina Ferrari, Manuela Totaro, Guido Valle, Claudio Carmine Guida, Filippo Aucella, Paola Caputo, Giuseppe Rubini

Journal: Hell J Nucl Med. ;21(1):43-47.

 

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessively inherited disorder with chronic and relatively stable presentation. Till now brain blood flow derangements have been described only in acute hepatic porphyrias. We describe the first findings of brain perfusion ...

Last Updated: 31 Dec 1969

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Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil).
 

Author(s): Isabella Brasil Succi, Luís Cristóvão Pôrto, Patricia Mariana Gonçalves da Rocha Porto Domingues, João Carlos Macedo Fonseca

Journal: An Bras Dermatol. ;93(1):148-150.

 

Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria ...

Last Updated: 31 Dec 1969

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Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda.
 

Author(s): Ashwani K Singal, Krishna V R Venkata, Sarat Jampana, Fakhar-Ul Islam, Karl E Anderson

Journal: Am. J. Med. Sci.. 2017 06;353(6):523-528.

 

Hepatitis C virus (HCV) infection is a common susceptibility factor for porphyria cutanea tarda (PCT). Experience on HCV treatment in patients with PCT is limited. Recently, HCV treatment has improved with direct-acting antivirals (DAA). We review our experience on HCV treatment in ...

Last Updated: 31 Dec 1969

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

Acute Intermittent Porphyria in children: A case report and review of the literature.
 

Author(s): Manisha Balwani, Preeti Singh, Anju Seth, Ekta Malik Debnath, Hetanshi Naik, Dana Doheny, Brenden Chen, Makiko Yasuda, Robert J Desnick

Journal: Mol. Genet. Metab.. 2016 12;119(4):295-299.

 

Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme metabolism, typically presents in adulthood, most often in women in the reproductive age group. There are limited reports on the clinical presentation in children, and in contrast to the adults, most of ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 25 Jul 2018

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Longitudinal Study of the Porphyrias
 

Status: Recruiting

Condition Summary: Acute Porphyrias; Cutaneous Porphyrias

 

Last Updated: 14 Feb 2018

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Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda
 

Status: Recruiting

Condition Summary: Porphyria Cutanea Tarda

 

Last Updated: 24 Jul 2018

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