It's all yours, Jordyn.
Acute Intermittent Porphyria
I’m continuing my two-part series on medical conditions that can initially present as psychiatric ones. Last post I talked about Cerebral Salt Wasting Syndrome which can happen in patients who have suffered head injury.
Today, something new. Something I hadn’t even heard of until now.
I work with physicians on a daily basis in my job as a pediatric ER nurse. Now, all of them are smart but a couple are UBER-smart and if your kid is the zebra in the forest you would definitely want one of these two ladies to be on.
I posed Jeannie’s request to one of these women and the first thing to slip off her tongue was Acute Intermittent Porphyria. And then when she said it was a genetic condition—my ears were all sorts of perked up more because I am a medical nerd at heart and love learning new things.
Just what is Acute Intermittent Porphyria or AIP?
AIP is a group of rare diseases that are passed down from families where the important part of hemoglobin (which is attached to your red blood cells) is not made properly as the result of a deficiency of certain enzymes. Heme is also found in certain muscles.
AIP is an autosomal dominant disease. The leading problem is neurologic damage that can first show as psychiatric manifestations like anxiety, agitation, hallucinations, hysteria, delirium and depression and these patients are commonly misdiagnosed as having a psychiatric illness. There are 1-5 cases per 100,000 people but can be as high as 60-100 cases per 100,000 people in northern Sweden. It affects women more than men. Hmm—I wonder if this lends to the initial psychiatric diagnosis. Most patients become sick between the ages of 18-40.
The normal sequence during an acute attack is abdominal pain, followed by psychiatric symptoms and then peripheral neuropathies. Patients can be symptom free between attacks.
One important step in the diagnosis is to check the patient’s urine for porphobilinogen and I can tell you that this is not a common urine test at all.
Treatment is to decrease heme synthesis and reduce the precursors of porphyrin. This is accomplished by giving the patient high doses of glucose (sugar) for mild attacks and hematin for severe attacks. Narcotics can be used effectively for pain control.
What do you think? Have you ever heard of this particular genetic disease?
If interested in learning more—please follow the links that I used as a reference for this piece.
Thanks so much Jeannie for hosting me! It’s been a pleasure to be here with your readers.
And if you’re a writer looking for medical help—I run a medical blog for authors (what Jeannie does only on the medical side.) You can find it at www.redwoodsmedicaledge.com.
Jordyn Redwood is a pediatric ER nurse by day, suspense novelist by night. She hosts Redwood’s Medical Edge, a blog devoted to helping contemporary and historical authors write medically accurate fiction. Her first two novels, Proof and Poison, garnered starred reviews from Library Journal and have been endorsed by the likes of Dr. Richard Mabry, Lynette Eason, and Mike Dellosso to name a few. You can connect with Jordyn via her website at www.jordynredwood.net.
Thanks, Jordyn, for taking the time to inform us of these amazing disorders that we could wrangle into our fiction.