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| Image Credit: Wikimedia Commons |
Emergency Medicine Resident Physicians
St. Joseph’s Regional Medical Center, Paterson, NJ
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| This post was peer reviewed. Click to learn more. |
Introduction
All emergency physicians have had patients that arrive at the emergency department with 10/10 abdominal pain, coming in like a screaming banshee from the waiting room. We pursue and rule out the dangerous diagnoses that we don’t want to miss: abdominal aortic aneurysm, pneumoperitoneum, appendicitis, ischemic bowel, etc., but what happens when all the labs and imaging you ordered are normal? Perhaps it is a not so uncommon case of hypodilaudidemia, but is there something else more sinister that we should have in the back of our minds with these patients?
The eight-step process that is required for the biosynthesis of heme is something we rarely think of in emergency medicine, but can be the source of great concern for patients that suffer from one of the many porphyrias. There is a wide range of clinical entities that can manifest by a defect or absence of the multiple enzymes within this pathway; luckily, there are only four inherited and one acquired subtype that present acutely.
Etiology
Acute intermittent porphyria (AIP) is the most common of these acute porphyrias occurring in 1-2/10,000 people, and most commonly in those of northern European descent.[1] Variegate porphyria (VP), hereditary coproporphyria (HCP), and aminolevulinic acid dehydratase deficient porphyria (ALAD-P) constitute the remaining inherited acute porphyrias; whereas, Plumboporphyria (also known as lead poisoning) is the only acquired form and acts at the same catalytic step as the ALAD-P porphyria.[1] The biochemical differences between the different acute porphyrias are not essential to know as they are not distinguishable in their clinical presentations, and the treatment is uniform for all of them.
