What's UP Doc? Is a monthly column where we feature a patient question along with a response from a member of the UPA Scientific Advisory Board.
Do you have a question you would like to ask a Porphyria Expert? Send us an email at firstname.lastname@example.org. We’d love to hear from you!
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 email@example.com 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 firstname.lastname@example.org.