Annual Check ups for inactive AIP

What's UP Doc?
Written By Dr. Amy Dickey

What's UP Doc? Is a regular column where we feature a patient question along with a response from a member of the UPA Scientific Advisory Board.

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?

Thanks for the question! Just couple important points before we jump in:

  • This question is about AIP, but the same advice applies to other acute hepatic porphyrias (AIP, HCP, VP and ADP)

  • It is recommended that people with acute hepatic porphyria be followed by a physician with expertise in porphyria, but I know that can be hard to find depending on where you’re located.  (Note from UPA- please contact us at info@porphyria.org for help finding a porphyria specialist!).

 

Acute hepatic porphyrias like AIP do have some potential complications, so there are a few things that would be helpful for your doctor to check for annually if you aren’t on any medication for AIP and haven’t had symptoms or an acute attack in years:

  • Kidney and liver function. People with acute hepatic porphyria are at increased risk of kidney disease and liver damage, so it's very important for patients to get their kidney function and liver function checked at least once a year.

  • Urine porphobilinogen (PBG) and urine porphyrins.  It would also be helpful to check urine porphobilinogen (PBG) and urine porphyrin levels annually. Between the two, urine PBG is the most important. PBG is sometimes part of a urine porphyrin panel, but most of the time, it’s not. Many doctors don’t know to order it.  These tests help establish a baseline level and can make it easier for doctors to determine if you’re having an attack. Some patients also have chronically high levels of PBG and never have symptoms, and we don’t have a good understanding if that places them at risk of kidney damage or other complications. The preferred way to order these tests is “spot” urine PBG and porphyrin tests that are normalized with urine creatinine, which tells us how concentrated the urine is. In some places, the urine creatinine needs to be ordered separately, and doctors may not know to do that. 24-hour samples aren’t necessary or preferred.

  • Liver ultrasound for 50+. Acute porphyria patients are at increased risk of a liver cancer called hepatocellular carcinoma, even if their porphyria isn’t active. It is recommended that acute porphyria patients over 50 have screening ultrasound every 6-12 months.

 

Thank you to Dr. Dickey for this What's UP Doc? answer! Do you have a question for a porphyria expert? Send it to info@porphyria.org.

 

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Dr. Amy Dickey

Dr. Amy Dickey is an attending physician at Massachusetts General Hospital (MGH) and an Assistant Professor of Medicine at Harvard Medical School (HMS) with internal medicine and pulmonary and critical care training pursuing a career in clinical and translational porphyria research. Her personal history with porphyria began at age 3, when she started to have painful sunlight sensitivity from erythropoietic protoporphyria (EPP). However, she was not diagnosed until age 13.

During her fellowship, she initially studied basic immunology related to HIV-TB co-infection. Concurrently, however, her personal history with EPP and her increasing involvement with the Porphyrias Consortium convinced her of the great need for researchers to study porphyria. While she conducts clinical studies on all the porphyrias, her primary research interests include measuring light sensitivity in EPP, understanding the reasons for differences in light sensitivity between patients, and testing new therapies for EPP.

In addition to research, she has also served as a spokeswoman for the porphyria community, speaking to the Food and Drug Administration about porphyria, writing an opinion piece in STAT news, giving lectures to physicians about porphyria, and presenting at porphyria patient support group meetings. She is also co-director of the MGH Porphyria Center within the MGH division of hematology.

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