It's all yours, Jordyn.
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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.
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Thanks, Jordyn, for taking the time to inform us of these amazing disorders that we could wrangle into our fiction.
Let's Analyze
After reading about Cerebral SaltWasting Syndrome and Acute Intermittent Porphyria, what are your thoughts about leading readers along a merry chase? You get them thinking that a character has a serious psychological problem, only to resolve it with a medical problem that's easily treated?
