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!

WHAT IS NEUROPATHIC PAIN?

What could it be?
Nerve Pain WHAT IS NEUROPATHIC PAIN? Neuropathic or nerve pain (NP) is a long-term or chronic pain disease that results from nerve damage. It can be caused by different diseases or conditions. Worldwide nerve pain affects as many as 26 million people. Neuropathic or nerve pain may affect larger areas of the body or it can be restricted to a smaller area, in this case it is called localized neuropathic pain (LNP). WHAT CAUSES NEUROPATHIC PAIN? Neuropathic or nerve pain may occur in the absence of an obvious visible cause (e.g. an accident, an injury, a chemical burn). There are several external situations that can directly damage nerves and lead to neuropathic pain, such as: Amputation of a limb (phantom pain, stump pain)Surgery (scar pain, post-surgery pain)Trauma or accident Neuropathic pain is also a common complication of other diseases, including nerve damage after shingles or herpes zoster infection (postherpetic neuralgia or PHN), nerve damage after HIV infectio…

GLOBAL PORPHYRIA ALLIANCE

GLOBAL PORPHYRIA ALLIANCE The APF is proud to support our members that live across the globe. Many countries around the world have developed organizations to support their local communities. We hope that enjoy the same opportunity to communicate with one another, develop friendships, and learn about porphyria. Here are links to patient advocacy groups worldwide that offer support to individuals impacted by porphyria. Argentina: Centro de investigaciones sobre porfirinas y porfirias | More informationAustralia: Porphyria Association, Inc. | More informationBrazil: Associação Brasileira de Porfiria | More informationCanada: Canadian Association for Porphyria | More informationColombia: Fundación Colombiana Para La Porfiria | More informationDenmark: Porfyriforeningen.dk (Porphyria Association Denmark)Denmark: Porfyrier.dk (Danish Porphyria Support Group)England: British Porphyria AssociationFinland: Finnish Porphyria Support Group France: Association Française des Malades Atteints de Por…