Porphyria Center

Overview

The porphyrias are a group of disorders that are caused by abnormal activity of different enzymes in the heme production pathway. Each enzyme deficiency leads to a different type of porphyria, which can have different clinical presentations. The acute porphyrias present primarily with abdominal pain, nausea, vomiting, and neurological symptoms. Other types of porphyria affect mostly the skin and are therefore called cutaneous porphyrias. These can either lead to severe burning pain and swelling of the hands after sun exposure (like in erythropoietic protoporphyria) or skin blistering (like in PCT or CEP).

The diagnosis of the different porphyrias can be made by testing for elevated porphyrin levels in urine or blood, depending on the type of porphyria. Genetic testing is not necessary to diagnose most types of porphyria, but it can be helpful to test relatives who may be at risk for developing symptoms, especially in acute porphyria.

Depending on the type of porphyria, management also differs significantly and while specific treatments are available for some types (like the acute porphyrias), no therapies have been discovered yet for other types (like for CEP).

The porphyrias can affect multiple organ systems and many patients with porphyria are complex and requires specialized care. Our multidisciplinary team consists of medical providers from different specialties who are dedicated to the diagnosis and management of all different types of porphyria. Cleveland Clinic offers access to expertise and state-of-the-art management of these rare conditions, which are often mis- or undiagnosed.

What We Treat

The different types of porphyria we treat include:

Acute Hepatic Porphyrias (AHP):

The acute hepatic porphyrias (AHP) are caused by enzyme defects in the liver (hepatic). They often present with abdominal pain and neurological symptoms. People with VP and HCP may also experience skin blistering when exposed to the sun.

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

Cutaneous Porphyrias:

Cutaneous Erythropoietic Porphyrias

These types of porphyria typically present with reactions of the sin to sun exposure, such as pain, swelling, erythema (redness), blistering and scarring. They main enzyme defect is located in the bone marrow (therefore they are called erythropoietic).

• Erythropoietic Protoporphyria (EPP).
• X-linked Protoporphyria (XLP).
• Congenital Erythropoietic Porphyria (CEP).

Cutaneous Hepatic Porphyrias:

In these porphyrias, the main organ involved is the liver (hepatic) and persons with these types of porphyria also have reactions of their skin to sun exposure (mainly blistering and scarring). They do not experience any abdominal pain symptoms like individuals with AHP.

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

Types of treatments offered at Cleveland Clinic:

• Givosiran (Givlaari): a monthly injections for patients with symptomatic acute hepatic porphyria.
• Hemin (Panhematin): an infusion used to treat acute porphyria attacks.
• Afamelanotide (Scenesse): a subcutaneous implant administered to patients with Erythropoietic Protoporphyria and X-linked Protoporphyria.

Our Team

Medical Geneticist

• Angelika Erwin, MD, PhD
  Founder and Director, Porphyria Center

Dermatologist

• Joshua Arbesman, MD

Neurologist

• Benjamin Claytor, MD

Hematologist

• Alan Lichtin, MD

Genetic Counselor

• Allison Schreiber, MS, LGC

Resources

Patient Resources

• United Porphyrias Association
• American Porphyria Foundation
• British Porphyria Association

Cleveland Clinic’s Porphyria Center is a member of the US Porphyrias Consortium and is participating in several clinical trials:

• The Porphyrias Consortium
• International Porphyria Network

Appointments

Patients of the Porphyrias Center are seen at Cleveland Clinic main campus:

10524 Euclid Ave – C15
Cleveland, OH 44195

To make an appointment, please call 216.636.1768.