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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Take Care and Celebrate: Adapting the Holidays to My Porphyria
Diana Escobar (AIP) shares her tips and recommendations for enjoying the festive season without compromising your health.
Meet Dr. Makiko Yasuda, Porphyria Researcher
One thing I love about science is you learn something, then new information comes up and it opens up a whole new set of questions.
Mental Health in the Porphyrias
This study involved focus groups with porphyria patients to explore the emotional and psychological challenges they face. Participants discussed their lived experiences, shared coping strategies, and offered recommendations for additional support to improve their quality of life.
UPA Receives Prestigious CZI Grant
The United Porphyrias Association (UPA) is honored to announce its selection as a recipient of the Chan Zuckerberg Initiative’s (CZI) Rare As One grant.
Urine Porphyrins for Diagnosis
Question: I think I might have Acute Intermittent Porphyria (AIP). My doctor ordered a urine porphyrin test, my porphyrins were high but then I was told that the results aren't considered diagnostic. Why not? And what tests should my doctor order?
Using AI to Diagnose Porphyria
People with symptomatic acute hepatic porphyria (AHP- includes AIP, VP and HCP) often wait about 15 years to get diagnosed, which is too long. This research used information from electronic health records (EHR) and machine learning (ML) to see if they could find people with AHP faster.
Meet Dr. Karl Anderson
Everything you learn about the disease you learn from patients. It’s important to understand how the disease really affects people, how the treatments benefit people, and for that you really need to listen to your patients.
Porphyria and Menopause
Question: How will menopause affect my porphyria? Are estrogen treatments for menopause safe?
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.