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To help any child in need who is living with hair loss due to all forms of Alopecia. We change the emphasis from growing hair to growing confidence. building self-esteem, providing support, and raising awareness.

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Their vision is to build a world where individuals and families impacted by scleroderma feel understood, supported, and empowered to live their best lives while advancing toward improved treatments and, ultimately, a cure through collective awareness, education, and community engagement.

Their mission is to provide hope, support, education, advocacy, and community for people affected by scleroderma, fostering connection and understanding, and to raise awareness and funds that drive research, improve quality of life, and bring the community together in the fight against this rare disease.

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We are a not-for-profit organization whose mission is to empower people with Lichen Sclerosus by providing evidence-based education and support.

Every person affected by Lichen Sclerosus deserves accurate and thorough information. This allows them to make sound decisions about their health.

We also believe every provider who treats a patient with or possibly with Lichen Sclerosus should be well-informed on diagnosing, treating, and caring for that person.

That is why Lichen Sclerosus Support Network’s mission is to provide accurate and evidence-based education to patients and providers.

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The educational activities of Massé are geared to facilitate the full participation of young and
adult individuals with albinism and vitiligo in society, by promoting training seminars for
families, as well as individuals in the community.
The social benefits of Massé’s programs aim to empower the affected individuals and encourage
self-acceptance in order to motivate a community where acceptance promotes a peaceful
enjoyment of life for all.

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The Association of Hidradenitis Suppurativa and Inflammatory Diseases (AHSID) is a not-for-profit national patient advocacy organization improving the lives of people living with hidradenitis suppurativa (HS) and inflammatory diseases through education, advocacy, awareness, policy, and health equity programs and initiatives.

We envision a world where the communities we serve have access to a healthcare system equipped to diagnose, treat, and manage HS symptoms and comorbidities without inflicting additional harm or shame. We envision a well-resourced, educated, and empowered community able to manage their disease(s) confidently in a world familiar with HS. 

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What is Porphyria?

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. It is the buildup of different types of porphyrins that causes the different types of porphyria and associated symptoms.

Most commonly the porphyrias are divided into the “acute hepatic porphyrias” (AHPs) and “cutaneous porphyrias,” depending on the primary symptoms.

AHPs, including acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALA-dehydratase deficiency porphyria (ALD) 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.

The cutaneous porphyrias present with blistering and scarring of the skin, pain, and/or redness and swelling in sun-exposed areas.

The porphyrias may also be classified as “hepatic” or “erythropoietic,” depending on the organ where the porphyrins accumulate. This includes the liver for the acute hepatic porphyrias (AIP, HCP, VP, porphyria cutanea tarda (PCT), and hepatoerythropoietic porphyria (HEP) or the bone marrow for the erythropoietic porphyrias (congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and X-linked protoporphyria (XLP).

What are the types of Porphyria?

Acute Hepatic Porphyrias (AHP)

The Acute Hepatic Porphyrias (AHP) are porphyrias where the main 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.

• Acute Intermittent Porphyria (AIP)
• Variegate Porphyria (VP)
• Hereditary Coproporphyria (HCP)
• ALAD-Deficiency Porphyria (ADP)

Cutaneous Porphyrias

Cutaneous Erythropoietic Porphyrias:

The cutaneous erythropoietic porphyrias are porphyrias that involve various skin symptoms and the main organ involved is the bone marrow. These typically present with blistering and scarring of the skin, pain, and/or redness and swelling in sun-exposed areas.

• Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP)
• Congenital Erythropoietic Porphyria (CEP)

Cutaneous Hepatic Porphyrias:

The cutaneous hepatic porphyrias are porphyrias that involve various skin symptoms and the main organ involved is the liver. These do not have acute symptoms like the AHPs. They typically present with blistering and scarring of the skin.

• Porphyria Cutanea Tarda (PCT)
• Hepatoerythropoietic Porphyria (HEP)

How is Porphyria Diagnosed?

All porphyria diagnoses are confirmed by biochemical testing. “Clinical diagnoses” without positive biochemical results are not considered diagnostic of porphyria.

First Line Testing:

Biochemical testing, or blood and urine tests, are the first ones that should be done when a type of porphyria is suspected. The specific biochemical tests depend on the symptoms. For all the first line tests the results will be very high if someone has porphyria. Small increases in these tests are generally not diagnostic.

• Acute attack symptoms (i.e. abdominal pain, nausea, vomiting, other pain, etc.) suggestive of an acute porphyria —a urine porphobilinogen (PBG) test, this is different than a test looking for urine total porphyrins.
• Blistering skin symptoms suggestive of PCT, CEP, HEP, VP, or HCP—a blood test called plasma total porphyrins, and a urine total porphyrins test.
• Non-blistering skin symptoms suggestive of EPP or XLP—the blood tests plasma total porphyrins and erythrocyte protoporphyrins.

Making Sure the Tests are Done Properly:

Most of these tests can be done properly at any laboratory. Only erythrocyte protoporphyrin testing should be done at specific labs.

These biochemical tests are sensitive to being in sunlight for extended periods of time, special brown containers are generally used when collecting the samples.

Genetic Testing:

Each type of porphyria (with exception of Sporadic PCT) is caused by a mutation, or change, in the genetic material that codes for a specific enzyme in the heme pathway. This testing is done on a blood, saliva, or mouth swab sample, generally after the biochemical testing has been done in someone who was recently diagnosed, or in family members of someone with a porphyria.

The different genes that cause the porphyrias are:

Type of Porphyria Gene

ALA-Dehydratase Porphyria (ADP) ALAD

Acute Intermittent Porphyria (AIP) HMBS

Congenital Erythropoietic Porphyria (CEP) UROS

Porphyria Cutanea Tarda (PCT), familial form UROD

Hepatoerythropoietic Porphyria (HEP) UROD

Hereditary Coproporphyria (HCP) CPOX

Variegate Porphyria (VP) PPOX

Erythropoietic Protoporphyria (EPP) FECH

X-linked Protoporphyria (XLP) ALAS2

A very small number of people who have a biochemical diagnosis of porphyria may not have a gene change found.

What are the treatment options for Porphyria?

How do I Connect with a Porphyria Specialist?

The Scientific Advisory Board of the UPA is comprised of the foremost porphyria experts in the US. If you require specialist guidance, UPA will be happy to assist in connecting you to a porphyria specialist center for support. Please contact UPA at info@porphyria.org or call 1-800-868-1292.

Where can I learn more about Porphyria?

The United Porphryias Association is devoted to the porphyrias. UPA Is committed to improving the quality of life of the porphyria patient community and is relentlessly focused on advancing disease awareness, research, and therapies in all the porphyrias.  The vision of UPA is a world where patients are free from the pain and challenges of porphyria.

For more information:

Visit the United Porphyrias Association website:
www.porphyria.org

Or contact us at Email: info@porphyria.org

Phone: 888-866-1292

The United Porphyrias Association is a 501(c)(3) nonprofit organization supported by tax-deductible donations.

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