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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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.
Annual Check ups for inactive AIP
Question: I have AIP. I haven’t had a porphyria attack for several years and I don’t have a porphyria specialist. Is there anything I should ask my doctor to check for during my annual check-up?
Meet Dr. Manisha Balwani
Seeing patients and how it impacts them day-to-day, and how their families' lives are impacted, it’s a different level of understanding.
Light-Related Skin Symptoms in EPP
This research describes some important features of EPP including prodromal (warning) symptoms, a priming effect from previous light exposure, and lack of visible symptoms among many patients.
Pain in Acute Hepatic Porphyrias
This article provides an overview of the different types of pain in acute hepatic porphyria (AIP, VP, HCP, ADP) and how they may be treated.
RNA interference therapy in AHP
This article provides an overview of the current state of research and knowledge about the use of givosiran for treating acute hepatic porphyria.
Global Porphyria Day: Live April 19, 2023
In a special livestream for Global Porphyria Day 2023. UPA's own Kristen Wheeden and Porphyria Expert Dr. Bruce Wang answered your questions! Recording is now available.
Dr. Wang, Live: February 18, 2023
Check out this recording of UPA's Kristen Wheeden and Porphyria Expert Dr. Bruce Wang as they answered your porphyria questions live.
Protoporphyria Guidelines
Question: Are there guidelines for managing erythropoietic protoporphyria (EPP) and x-linked porphyria (XLP)?
Panhematin History
Question: I have been treated with Panhematin for many years – and I’m interested in learning about how Panhematin was first used. Can you share that history with me and others?
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?
Acute porphyria and kidney health
Question: I heard a doctor in a presentation say that people with porphyria should “look after their kidneys.” How do you do that?
PCT and menopause
Question: Can starting menopause make PCT worse/relapse? (because phlebotomies are a treatment and if you stop having periods maybe iron builds up?)
Givlaari for acute porphyria
Question: I am thinking about starting Givlaari injections. What tests should I have done before and during my treatment?
Confusion during acute attacks
Question: I have Variegate Porphyria – why am I confused during an attack?