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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Mental Health in the Porphyrias
Summing UP United Porphyrias Summing UP United Porphyrias

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.

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The EPP Impact Questionnaire
Summing UP United Porphyrias Summing UP United Porphyrias

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.

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Meet Kristen Wheeden, UPA President
Porphyria Experts United Porphyrias Porphyria Experts United Porphyrias

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

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Surgery precautions and cutaneous porphyrias
What's UP Doc? Dr. Herbert Bonkovsky What's UP Doc? Dr. Herbert Bonkovsky

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?

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EPP/XLP Liver Guidelines
Summing UP United Porphyrias Summing UP United Porphyrias

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).

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EPP and bone health
What's UP Doc? Dr. Sioban Keel What's UP Doc? Dr. Sioban Keel

EPP and bone health

Question: I’ve heard that vitamin d deficiency can cause osteoporosis, and that sunlight is the main way you get vitamin D. If you have to stay out of the sun to avoid a reaction, what are things you can do to keep your bones strong?

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How many people have porphyria
What's UP Doc? Dr. Brendan McGuire What's UP Doc? Dr. Brendan McGuire

How many people have porphyria

Question: I understand that Porphyria is a rare disease and being recently diagnosed with AIP, I am trying to understand more and more. How many people in the US have porphyria? Which type of porphyria is the most common? The least common? How do you calculate these numbers?

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