Porphyria Center

Overview

The Mass General Porphyria Center, the first of its kind in New England, provides comprehensive care and the latest therapies to patients with all types of porphyria. Our unique, multidisciplinary approach helps ensure that patients with porphyria receive state-of-the-art care from a team of specialists across Mass General.

What is Porphyria?

Porphyria is a group of eight genetic disorders affecting the biosynthesis of heme – a molecule critical to the formation of hemoglobin and red blood cells. Porphyria develops when there is an error in one of the steps in heme production, such that porphyrins or porphyrin precursors accumulate and cause symptoms.

Porphyria can be grouped into two broad categories: ”acute porphyrias” and “cutaneous porphyrias.” The acute porphyrias are often characterized by severe episodes of abdominal pain and neurologic symptoms, though some patients may also develop skin blisters. Patients with cutaneous porphyrias have cutaneous sensitivity to light, with some forms characterized by blistering and scarring and others characterized by severe pain and swelling. The porphyrias are inherited conditions and may run in families.

Types of Porphyrias

Acute Porphyrias:

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

Cutaneous Porphyrias:

• Erythropoietic Protoporphyria (EPP)
• X-Linked Protoporphyria (XLP)
• Porphyria Cutanea Tarda (PCT)
• Congenital Erythropoietic Porphyria (CEP)

Symptoms of Porphyria

Patients with certain types of porphyria can have life-threatening and debilitating symptoms, including intractable abdominal pain, seizures, kidney and liver failure, paralysis, respiratory failure, and extreme sun sensitivity. Symptoms can range from mild and infrequent to life-threatening, and the possible symptoms are specific for each type of porphyria.

Multidisciplinary Patient Care

Porphyria can affect multiple organ systems, and as such, having a team of experts skilled in the care of patients with porphyria is key to providing comprehensive care. The Mass General Porphyria Center is a multidisciplinary clinic that includes physicians from the Division of Hematology and Oncology (Rebecca Karp, MD), the Division of Pulmonary and Critical Care Medicine (Amy Dickey, MD), and the Department of Dermatology (John Trinidad, MD, MPH). Advance practice providers, Pamela Hodges, PhD, MPH, ANP-BC and Jennifer Mead, PA, assist with patient care and medication administration.

Patients will often see multiple providers within one streamlined clinic visit.

Additionally, for patients with liver involvement from porphyria, the team cares for patients collaboratively with Behnam Saberi, MD, hepatologist at Beth Israel Deaconess Medical Center.

Latest Treatment Options

The Mass General Porphyria Center offers two new FDA-approved drugs for the treatment of patients with porphyria.

• Givosiran (Givlaari) is available for patients with acute hepatic porphyria and is given monthly in our infusion center.
• Afamelanotide (Scenesse) is administered to patients with erythropoietic protoporphyria and X-linked protoporphyria by specially trained providers. MGH is one of a few centers in the US to offer afamelanotide treatment.

Other Treatment Options

The Mass General Porphyria Center offers standard-of-care treatment to patients with porphyria including intravenous hemin and supportive care. Clinical studies to help develop new treatments for patients with porphyria are underway.

Support Porphyria Research

Donate to the Mass General Porphyria Center and help our multidisciplinary team provide comprehensive care and the latest therapies to patients with all types of porphyria.

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