Acute Intermittent Porphyria (AIP)
My journey with Acute Intermittent Porphyria officially started in the spring of 2016 when I had my first attack. It was the stereotypical abdominal pain type that put me in the emergency room and had me admitted to the hospital for several days. The symptoms I had (at least that I can remember) were severe abdominal pain (like the pain level is indescribable, I have Trigeminal Neuralgia and the AIP pain is so much worse), tachycardia, anxiety, kidney failure, and was going into liver failure. They were pumping me full of IV glucose and had me on heavy doses of pain medications, that really didn’t even take the edge off the pain. I was in the fetal position moaning and screaming for a couple of days. Luckily the hospital I was at had a doctor that was experienced with Acute Intermittent Porphyria and knew how to treat it. Aside from the IV glucose, she also had me eating a high carbohydrate diet (rice and potatoes with every meal). It took several days of the IV glucose and high carb diet to help. This is the attack when I was officially diagnosed with AIP.
I have a strong family history of AIP on my dad’s side, so it didn’t take them as long to diagnose me as it may have someone who does not have the recorded history I do. And aside from this attack, we also suspected it because I have a lot of medication allergies, particularly to medications on the “unsafe” list.
Most of the continuing problems I have as a result of AIP are nervous system related. What we can directly attribute to it is my Autonomic Neuropathy, Postural Orthostatic Tachycardia Syndrome (POTS), Small Fiber Neuropathy, Trigeminal Neuralgia, and some neuromuscular related symptoms. The Trigeminal Neuralgia I had before the attack, but demyelination was noted by my neurosurgeon when I had surgery to have the nerve severed. After I was officially diagnosed with AIP, my neurologist is who made that connection. I have been told that the other conditions I listed (most being autonomic nervous system related) can directly be attributed to the AIP.
Based on the consults with various medical specialists, treatments like Panhematin would not help me, as my issues are nervous system related. So we just treat the symptoms. I get infusions of a couple of different medications every other week to help calm the nervous system down and I take other medications by mouth to help with the nerve pain and autonomic dysfunction. This winter (2022) I am planning on having a trial of an upper cervical spinal cord stimulator to see if that will help some of my pain. If it does, we will move forward to the permanent implant.
The American Porphyria Foundation has been so helpful in educating me and providing me with information that I can give to my other physicians to educate them on my condition. AIP is very complicated, and if I’m being honest, I still don’t fully understand it. That’s why I’m glad for the APF. It’s nice to be able to reach out to those who do, as well as to have the groups to connect with other patients who have the same condition.
The best advice I have for someone newly diagnosed or who are going through the diagnostic process is to advocate for yourself. No one knows your body better than you do. Don’t let medical providers gaslight you or glaze over symptoms. And it never hurts to get a second or third opinion. Diagnosing AIP takes time and patience. That’s one of the hardest parts. But with patience, you will get answers.