Porphyria

Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a ...1

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Symptoms of Porphyria

Approximately 80-90% of individuals who carry a gene mutation remain asymptomatic, and others may have only one or a few acute attacks throughout life. The most frequent symptom is severe abdominal pain and is often accompanied by nausea, vomiting ...2

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Complications of Porphyria

Does porphyria affect my liver? Should I have liver tests? The liver is affected differently for each type of porphyria. Please refer to the disorder definitions page about your type of porphyria for more information on how the liver is ...3

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Causes of Porphyria

In the porphyrias, these mutations are in the genes involved in a certain chemical pathway, called the heme biosynthetic pathway. Heme is a compound that the body needs to make hemoglobin and there are several steps to make this compound ...4

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Causes List for Porphyria

Some possible causes of Porphyria or similar disorders may include:5

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Types of Porphyria

Porphyrias Consortium (PC)

Source: RDCRN (NCATS ...6

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Diagnosis of Porphyria

Diagnosis of the Porphyrias: There are many laboratory tests available for the porphyrias, and the right tests to order depend on the type of porphyria the doctor suspects. When abdominal and neurological symptoms suggest an acute porphyria, the best screening ...7

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Genetics of Porphyria

The porphyrias are inherited genetic conditions, which means that people with a porphyria have changes to certain genes that affect their body’s ability to regulate itself. When genes are copied, either to make new cells or to make a ...8

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Treatments: Porphyria

Where can I find a porphyria expert? What other type of doctor can diagnose me properly and what type of specialist should I see if I have porphyria? There are several Porphyria experts in the US and outside the US ...9

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Research for Porphyria

The Porphyrias Consortium includes six of the leading porphyria centers in the United States, as well as three Satellite sites, that provide expertise and experience in the diagnosis and treatment of patients with porphyria. The staff in each center includes ...10

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Names and Terminology

Porphyria is derived from the Greek word "porphyra", which means purple. When heme production is faulty, porphyrins are overproduced and lend a reddish-purple color ...11

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References

  1. Source: NIDDK (NIH): niddk.nih.gov/ health-information/ health-topics/ liver-disease/ porphyria/ Pages/ facts.aspx
  2. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ porphyrias/ Learn-More/ Disorder-Definitions
  3. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ porphyrias/ Learn-More/ FAQs
  4. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ porphyrias/ Learn-More/ Disorder-Definitions
  5. Source: Algorithmically Generated List
  6. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ whoweare/ index.htm
  7. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ porphyrias/ Learn-More/ Disorder-Definitions
  8. ibid.
  9. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ porphyrias/ Learn-More/ FAQs
  10. Source: RDCRN (NCATS/NIH): rarediseasesnetwork.org/ cms/ porphyrias/ About-Us
  11. Source: NCBI, Genes and Disease (NCBI/NIH): ncbi.nlm.nih.gov/ books/ NBK22229/ 

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