Skip to main content

Q & A WITH PORPHYRIA EXPERT, DR. BRUCE WANG, UCSF

Q & A WITH PORPHYRIA EXPERT, DR. BRUCE WANG, UCSF 

The APF asked our Facebook friends for their top questions they would ask a porphyria expert.

 The following questions were submitted to Dr. Wang for his responses ... Q. Does EPP give us bad teeth? Also, do people with EPP get stomach pains or is that with the other porphyias? A. The porphyrin that accumulates in EPP patients is protoporphyrin IX, which does not cause discoloration to teeth or abdominal pain.

 The type of porphyria that leads to discolored teeth is Congenital Erythropoietic Protoporphyria. The porphyrias that lead to episodic abdominal pain attacks are the acute hepatic porphyrias. Q. I have EPP and I have a severe reaction on my hands and lips. Do I seek urgent care? Also, what can you even do when you burn your lips? A. The acute reactions to sunlight in EPP can be very severe and, unfortunately, there are not many effective options to treat the symptoms. Nonsteroidal anti-inflammatory drugs (NSAIDS such as ibuprofen) and stronger pain medications like opiates often provide only partial relief. These symptoms generally resolve spontaneously within hours to days.

 Q. Do children under 10 years of age really have AIP attacks? I have seen this on social media, and to my knowledge it starts in teenage years with hormones. A. Acute porphyria attacks occur when the body, and in particular the liver, has increased demand to make heme that the mutated enzyme cannot keep up with. Hormones are known to be important inducers of heme production by the liver. This is why more than 90% of the patients who have acute porphyria attacks are female, and also why the vast majority of the attacks occur during the age range when they are actively menstruating.

 But there are other causes that can induce the liver to make more heme, so it is possible, though rare, for acute attacks to occur prior to the start of menses. I would recommend carefully looking for other causes of acute, episodic abdominal pain in younger kids in order to not miss other more common causes.

Comments

Popular posts from this blog

Amazing patient advocacy....and needed media for this issue. Thank you Terri Witter!

Meet Shadow Jumper Mitchell Felts

Meet Shadow Jumper
Mitchell FeltsMitchell Felts, age 12 How old were you when you were diagnosed?
I was 9 Years old. Do you remember your first flare/reaction?
No, I do not recall my first flare & reaction. What did it feel like to you?
It was tingling bad on my skin. What things help you feel better? (cool water, ice, shade, bath, clothes)
It helps me when I use cold rags and ice packs on my skin. How long does it take before you start to feel better?
Sometimes, I start to feel better after the first day, but sometimes it takes 2-3 days or longer to feel better. What kind of clothing/trends do you wear when you go outside or in bad lighting?
I can use long sleeves, hats and umbrellas. What is your most favorite sport to play or watch? Do you play it inside or outside? During the day or at night?
I enjoy playing baseball late in the day and it feels great to play at night. What ways are you able to adapt to do certain activities outside?
I must cover up, its hot outside so I must take breaks to c…

Medical Moment: Patient/Physician Relationship

Medical Moment: Patient/Physician Relationship
We all want a great relationship with our doctors, right? You, as the patient have a responsibility to establish a solid rapport with your physician and other members of the healthcare team. This can have a positive impact on the quality of care and better access to treatment. Yes, there could be a stigma associated with having Porphyria but don’t let it stop you from receiving the proper treatment that you deserve. Communication is KEY! Below you will find some key elements and tips that will not only prepare you for your visit with your doctor, but also build a strong relationship.
Here are a few tips for your doctor’s visit: 1. Plan – Be prepared! Prepare your questions and concerns beforehand. You want to be courteous of your physician’s time with you. 2. Make a list – Make a list of your questions, concerns and any other relating information. 3. Communication is key – Make sure that you understand fully what the doctor is explaining/a…