About Porphyria
What is Porphyria?
The porphyrias are a group of rare, genetic disorders related to how your body makes an important molecule called heme.
When a step in the heme-making pathway doesn’t work properly, the molecules used to make heme can build up and cause symptoms. The type of porphyria is determined by which step isn’t working and which molecules (called porphyrins and/or porphyrin precursors) build up.
Porphyria symptoms can vary widely between each type of porphyria from intense abdominal pain, nausea, weakness and brain fog in the acute hepatic porphyrias to unbearable pain or blistering when exposed to sunlight and some artificial lights in the cutaneous (skin) porphyrias.
Regardless of type, porphyria patients face many common challenges, including:
Long delays in diagnosis
Difficulty finding appropriate care and knowledgeable doctors
Lack of understanding from family, friends and health care providers, particularly if symptoms are invisible
Impacts on employment, mental health and quality of life.
Explore detailed information on treatment, management and coping day-to-day for each type of porphyria:
Acute Hepatic Porphyrias
Cutaneous Porphyrias
Porphyria FAQ
The porphyrias are a group of rare, genetic disorders. People living with a porphyria have changes to certain genes, called mutations, which affect their body’s ability to regulate itself.
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 in the body. Each type of porphyria is caused by a defect in a specific enzyme in the heme biosynthetic pathway. Without these enzymes working properly, the body is not able to finish making heme and it causes a buildup of other compounds, called porphyrins and porphyrin precursors (ALA and PBG).
The buildup of different types of porphyrins and porphyrin precursor causes the different types of porphyria and associated symptoms.
The different types of porphyria can be grouped together in a few different ways. The most common ways of grouping them are by their primary symptoms and/or the part of the body that is responsible for the excess of porphryins.
Acute Hepatic Porphyrias
The Acute Hepatic Porphyrias (AHP) are porphyrias where the main effects of the enzyme defects are in the liver (hepatic). They typically present with sudden attacks of severe stomach pain, among other symptoms, which last for several days; VP and HCP may also have skin symptoms of blistering after sun exposure.
Non-blistering Cutaneous Porphyrias
The non-blistering cutaneous porphyrias typically present with pain, and/or redness and swelling in sun-exposed areas. The time to initial symptoms can vary from minutes to hours. The enzyme defect for these types of porphyria is in the bone marrow (erythropoietic).
Blistering Cutaneous Porphyrias
The blistering cutaneous porphyrias typically present with blistering and scarring on the skin that is frequently light exposed, most commonly face and hands. They do not have the acute symptoms like the acute hepatic porphyrias (though some acute porphyrias may also cause blistering). The enzyme defects for these types of porphyria may either be the liver (hepatic) or the bone marrow (erythropoietic).
Porphyria diagnosis usually begins with biochemical testing. Genetic testing is generally performed after a positive biochemical test or on family members of someone with a confirmed diagnosis.
Recommendations for testing family members depends on how the different porphyrias are inherited.
Autosomal dominant disorders (AIP, VP, HCP & PCT)—testing of first-degree relatives (parents, siblings and children) is recommended once a diagnosis has been confirmed in someone with symptoms to provide appropriate counseling to family members who may also be at risk of developing symptoms.
Recessive disorders (ADP, CEP, EPP, HEP)—testing of relatives can be done for family planning information. Carriers of recessive conditions do not generally have symptoms of the disorder.
X-linked disorders (XLP)—testing of family members depends on the sex of the affected person and their relatives. A female with an X-linked disorder has a 50% chance of passing the disorder to any of her children with each pregnancy. However, a male with an X-linked condition will pass it on to all of his daughters but none of his sons.
For more information on who should be tested in your family talk to a porphyria specialist or genetic counselor.
FDA Approved Treatments- Acute Hepatic Porphyrias
PANHEMATIN® - hemin for injection prescription medication used to relieve repeated attacks of AIP related to the menstrual cycle in affected women, after initial carbohydrate therapy is known or suspected to be inadequate - Contact The Recordati Rare Diseases Patient Support Program for personalized support for PANHEMATIN.
GIVLAARI® (givosiran) - prescription medicine used to treat acute hepatic porphyria (AHP) in adults - Alnylam Assist™ provides patients with assistance accessing GIVLAARI.
FDA Approved Treatments for Protoporphyrias (EPP and XLP)
SCENESSE® (afamelanotide) implant - prescription medication indicated to increase pain-free light exposure in adult patients with a history of phototoxic reactions from erythropoietic protoporphyria (EPP) - CLINUVEL is committed to facilitating treatment access for SCENESSE through their Support Programs.
Investigational Treatments
Disc Medicine is investigating Bitopertin as a treatment for EPP
FDA is sponsoring study of Cimetidine as a treatment for EPP/XLP
Mitsubishi Tanabe is investigating Dersimelagon (MT-7117) as a treatment for EPP/XLP
If you are interested in learning more about treatments or participating in clinical research, contact UPA at info@porphyria.org or 800-868-1292.
Helpful Resources
UPA Porphyria and Medical Glossary
Not sure what a word means? Check out our glossary of porphyria and related medical terms for support.
Understanding Porphyria Guide
Learn about the science behind the porphyrias, the different types, its diagnosis and treatment, and commonly asked questions in this helpful guide for patients and healthcare providers.
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