experts in action

Porphyria Experts in Action

The United Porphyrias Association is proud to work closely with the porphyria experts on the UPA's Scientific Advisory Board and at the Porphyrias Consortium. 

We're pleased to introduce our Experts in Action where we'll feature:

  • Summing UP: Easy-to-understand summaries of recent and important scientific research
  • What's UP Doc? Where the experts answer your questions
  • Meet your experts: Where we get to know the experts a little better
  • Special events and recordings
  • New research opportunities
  • And more....

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What's UP Doc?
What's UP Doc? Surgery precautions and cutaneous porphyrias
November 13, 2023
By Dr. Herbert Bonkovsky

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?

Meet Padmini Pillai, PhD and UPA President's Council Chair
Meet Padmini Pillai, PhD and UPA President's Council Chair
November 12, 2023

"You have to figure it out for your own body and trust that you know your body better than anybody else. I think that's where having a community of other patients and patient advocates is important because it can give you that confidence, security, friendship, and empathy that you're doing what's right for you."

Patient Day Feature: Power Study Findings with Dr. Rebecca Karp Leaf
Patient Day Feature: Power Study Findings
November 7, 2023

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.
 

What's UP Doc?
What's UP Doc? Acute porphyria and liver tests
October 23, 2023
By Dr. Manish Thapar

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
Meet Dr. Manish Thapar
October 17, 2023

"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."

Summing UP: Evidence based consensus guidelines for diagnosis and management of Protoporphyria-Related liver dysfunction
Summing UP: EPP/XLP Liver Guidelines
October 16, 2023

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).

Experts in Action - Meet Dr. Amy Dickey
Meet Dr. Amy Dickey
September 25, 2023

"My connection to porphyria is a bit more personal than a lot of other researchers.  I have EPP porphyria."

Summing UP: Maternal and fetal outcomes in acute hepatic porphyria
Summing UP: Maternal and fetal outcomes in acute hepatic porphyria
September 22, 2023

In this Summing UP, researchers looked at 28 years of medical records to identify if women with AHP and their babies were at increased risk of pregnancy complications.

What's UP Doc? Dr, Amy Dicky - Annual Check ups for inactive AIP
What's UP Doc? Annual check ups for inactive AIP
September 18, 2023
By Dr. Amy Dickey

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?

Experts in Action - Meet Dr. Manisha Balwani Medical Geneticist at the Icahn School of Medicine at Mount Sinai in New York.
Meet Dr. Manisha Balwani
August 24, 2023

"Seeing patients and how it impacts them day-to-day, and how their families' lives are impacted, it’s a different level of understanding."