The porphyria community is lucky to be supported by dedicated physicians, researchers and advocates who work tirelessly to improve care and development new treatments for porphyria. The United Porphyrias Association is pleased to introduce you to some of them!
Can you tell us a bit about yourself and your connection to porphyria?
I am currently the Chair of Hepatology at the Jefferson Einstein Hospital in Philadelphia. I've been involved in taking care of patients with porphyria for the past 20 years. I started training in Hepatology in 2005 under Doctor Bonkovsky at the University of Connecticut and that's where I got first exposed to patients with porphyria. Part of my training was funded through the Protect the Future program, which promotes physician education and training about porphyria.
I’m a full time hepatologist (liver specialist) and I work as the medical director in a transplant center. My research is primarily clinical. I’ve been an investigator in the study of givosiran in acute hepatic porphyria and with Mitsubishi Tanabe and Disc Medicine study in patients with EPP or Erythropoietic protoporphyria.
Is there any research or new developments that you’re excited about right now? Research you hope to see more of in the future?
The ongoing study of bitopertin from Disc Medicine is exciting because bitopertin is a disease modifying treatment for EPP and XLP.
There are some unknown questions about the long-term outcomes for patients with acute hepatic porphyrias on givosiran. Does givosiran reduce kidney problems, does it reduce cancer risk? That’s something we need to learn more about.
There’s also an open question about whether we should be treating patients who are high excretors of porphyrins but do not have symptoms. Some people with acute porphyria never have an attack but they have consistently high levels of ALA and PBG. More research is needed to understand their outcomes.
What have learned from your porphyria patients?
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. I have become a better listener over time, and a better clinician. I have also had a bigger appreciation how chronic diseases also have an impact on the care givers at home, which often goes un-recognised.
Do you have any advice for patients who want to have an impact on where things go?
I think being involved with advocacy organizations is important. I would encourage them to become UPA members and participate in their work.
As an individual, I think being proactive in your own care is important. Having the safe drugs app on your phone to check on medications that are potentially unsafe. Making sure you have a medical alert bracelet. Knowing how your physicians and other providers can take care of you in the most appropriate manner really makes a difference.
Thanks for talking with us today. Is there anything you’d like to add?
It’s critical to establish a correct diagnosis for porphyria. There’s lots of confusion about testing, particularly with acute porphyrias. I think it’s important to raise awareness about the required tests for diagnosis. I want people to know urine porphyrins aren’t enough for a diagnosis of acute porphyrias, you need the measurement for urine PBG and ALA with creatinine. You also don’t need a 24 hour urine collection, a random sample is fine. Advocating for the correct tests can help you get a diagnosis!
Dr. Thapar is a member of UPA’s Scientific Advisory Board and an investigator for the NIH supported Rare Diseases Clinical Research Network’s Porphyrias Consortium.
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?