Spotlight Porphyria
Welcome to Spotlight Porphyria where we feature all things porphyria! Including:
Porphyria Voices shares experiences, insights, and advice from the porphyria community.
What's UP Doc? Where porphyria experts take your questions.
Summing UP explains the latest research in easy-to-understand summaries
Meet your experts and advocates where we meet the people changing the world for porphyria.
…and more!
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Meet Ariel Lager, UPA Director
Everything about my life before diagnosis: my job, my family, my friends, were not places where it felt like my new diagnosis fit and they were certainly not places and people who understood what I was going through.
The EPP Impact Questionnaire
Having a standardized questionnaire tool is important to evaluate and demonstrate the effectiveness and impact of new treatments for EPP. Regulators like the FDA consider improvements in quality of life, along with other factors, when deciding whether to approve new treatments.
This research developed a questionnaire called the EPP Impact Questionnaire or EPIQ.
Meet Craig Leppert, Shadow Jumpers Founder
I realized that my condition with the sun was either going to define my life or become a cool addition to the story of my life
Worldwide Patient Experience of Acute Porphyrias
Up to this point, most research that has been published about AHP has focused on symptoms and care during an acute attack. This research looks at the full burden of acute hepatic porphyrias (AHP, includes AIP, HCP and VP) on patients from around the world.
Live: Acute Porphyrias Bonus Questions
Dr. Bruce Wang answers the questions about acute hepatic porphyrias that we didn't get to in the Facebook Live Q&A on February 24, 2024.
Live: Cutaneous Porphyrias Bonus Questions
Dr. Bruce Wang answers the questions about cutaneous porphyrias that we didn't get to in the Facebook Live Q&A on February 24, 2024.
Meet Colin McEwen, Porphyria Advocate
I want to turn what I went through into something good, because otherwise it’s just suffering for the sake of suffering, and I can’t accept that. I want to do something more with my story
EPP/XLP Consensus Guidelines
This article provides guidelines for the diagnosis, treatment and management of erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP).
Meet Honorable Joe Crowley, UPA Director and Former Congressman
Building that connection with your elected officials can help sensitize them to that reality and keep them engaged in rare disease issues.
Meet Kristen Wheeden, UPA President
Collaboration between patients, caregivers, advocates, expert physicians, industry partners and regulators is necessary to realize advancements in porphyria. All of us doing our important roles can lead to better diagnostics, new therapies and better quality of life for our patient community
Meet Dr. Herbert Bonkovsky
With rare diseases, you could call every patient a clinical trial of one because each one is unique. It is important to listen to them and try to address their symptoms
Patient Day Feature: EPP & XLP Guidelines with Dr. Amy Dickey
The diagnosis and treatment of rare conditions like EPP and XLP can be confusing for doctors and patients alike. Join Dr. Amy Dickey as she walks us through the recommendations from the new consensus guidelines for diagnosing and managing protoporphyrias.
Acute hepatic porphyria and anaesthesia
Surgery and the use on anesthesia require special considerations for patients with acute hepatic porphyrias (AHP- includes AIP, VP and HCP). This article provides an overview* of precautions for the period before, during and after an operation (the ”perioperative period”) for patients with AHP.
Surgery precautions and cutaneous porphyrias
Question: I am having a planned laparoscopic surgery next week. Should there be a filter on the light on the laparoscope? If so, would you be able to tell me what filter would need to be used? Can you also tell me what filters would be needed for the surgery lights in the operating room?
Patient Day Feature: Power Study Findings with Dr. Rebecca Karp Leaf
From chronic pain, impacts on mental health, limitations to employment, the POWER study captures the realities of living with acute hepatic porphyria from patients around the world.
Acute porphyria and liver tests
Question: If you have acute porphyria, why is it important to have your liver function checked annually? What can you do to prevent issues with your liver?
Meet Dr. Manish Thapar
It’s been really eye-opening to see how important patient involvement is in rare disease. Patients can drive the field, move the field. Rare diseases like porphyria are very life-altering. Patients have an important role in how the regulatory agencies and how physicians are looking at the disease and what the outcomes are.
EPP/XLP Liver Guidelines
Liver dysfunction is a rare but very real possibility for people with EPP and XLP. These guidelines provide recommendations for the diagnosis, monitoring and treatment of liver-related dysfunction in protoporphyrias (EPP and XLP).
Meet Dr. Amy Dickey
My connection to porphyria is a bit more personal than a lot of other researchers. I have EPP porphyria.
Pregnancy Outcomes with Acute Porphyrias
This research used the Swedish Porphyria Registry to compare the pregnancy health risks and outcomes for women with an acute hepatic porphyria (“AHP”- includes AIP, VP and HCP) to women without porphyria.