15 Things You May Not Know About Acute Intermittent Porphyria

Acute Intermittent Porphyria (AIP) is a rare disorder affecting somewhere between 1-10 in every 100,000 people.

1. Acute Intermittent Porphyria is an ultra-rare disorder.

Haematologica / Via haematologica.org

The Porphyrias are a group of rare disorders categorized by a deficient enzyme in the liver. The disorder affects the production of heme, which is a component of hemoglobin, a protein in red blood cells. Acute Intermittent Porphyria is caused by a deficiency in the enzyme called "porphobilinogen deaminase,” which is a lot more fun to say than to have. While the penetrance of the disease is quite small (estimated at 1-10 in 100,000 people), the prevalence of the gene mutation may actually be as high as 1 in 1,700. Yet, the disease is largely overlooked because of how few people actually experience symptoms.

2. The symptoms really suck.

Jane Hendricks / Via naturopathicdoctorforyou.com

Because the deficient enzyme only works at ~50%, toxic "porphyrins" build up, causing really horrible symptoms, like severe abdominal pain, back pain, nausea, vomiting, tachycardia, hypertension, exhaustion, confusion, anxiety, urinary retention, muscle pain, weakness, breathing problems and in severe cases seizures, delusions, paralysis and hallucinations.

3. AIP is autosomal dominant.

Via discern-genetics.org

If one parent has the gene mutation, each child has a 50% chance of inheriting it.

4. Both men and women can have AIP, but symptoms are more common in women.

Via blog.naturesgatetens.com

The majority of people that inherit the genetic mutation for this disorder never experience symptoms, and the reason for this is unclear. Many triggers can cause disease activity, and one of these triggers is hormonal changes, which may be one reason why symptoms are more common in women than in men.

5. Many people go undiagnosed, and most people go months or even years before getting a diagnosis.

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The symptoms are nonspecific, and every test conducted in normal emergency department settings will come back negative unless Porphyria is specifically tested for. However, ED doctors rarely think to test for it, so it looks like nothing is physically wrong with the patient. Because of this Porphyria patients are often labeled as hypochondriacs, drug-seekers, or crazy.

6. This means that often people go through unnecessary procedures and even surgeries before getting a diagnosis.

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It’s not uncommon for people with AIP to get their appendix or gallbladder removed before the doctors figure out what is actually wrong with them. This can be especially problematic because unnecessary surgery causes stress on the body that can exacerbate AIP symptoms.

7. Getting treatment is very difficult, even once you have a confirmed diagnosis.

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The most common response I hear from doctors when I tell them that I have AIP is “Wow. Really? I haven’t even heard of that since medical school!” Many doctors do not know much about the disease and are therefore hesitant to take on Porphyria patients for fear of making them worse. The only current treatment available is an IV infusion of a substance called Panhematin. While the treatment has saved many patients' lives and is effective in reducing the symptoms in most patients, it’s an expensive and unstable drug that causes extreme side effects in some people, and it is not carried in most hospitals; ordering it can take days or even weeks.

8. Our pee turns purple when it’s exposed to light.

Scrubs Episode "My Dumb Luck" / Via scrubs.wikia.com

This is a tell-tale sign of porphyria. TV shows like Scrubs, House, and Grey’s Anatomy all have an episode where an AIP patient is diagnosed because the doctor sees the color of their urine. The urine can turn anywhere from orange to dark purple when exposed to ultraviolet light and air.

9. Many things can trigger the disease, so patients have to be very careful to avoid stress and certain medications.

memegenerator / Via Memegenerator.com

There is a list of medications that can trigger a Porphyria attack, which can be especially dangerous before a patient is diagnosed, because they don’t know what to avoid. Medications like barbiturates and birth control pills are particularly triggering. Undiagnosed patients are often prescribed medications that can worsen their disease. Other triggers include hormonal changes, fasting, tobacco, alcohol, infections and stress.

10. We’re not lazy, just tired.

Via invisibleillnesssoldiers.blogspot.com

A lot of patients with Porphyria get called lazy or out of shape because the disease is largely invisible. Patients do not always show physical signs when they are having a Porphyria attack, even when they are in immense pain, so it can be really hard to explain to friends and family (and doctors) when you look perfectly fine but cannot get out of bed or need a morphine drip.

11. We’re not just overdramatic hypochondriac women.

Via themighty.com

The stereotype of the Porphyria patient coming into the Emergency Department is that we are over-dramatic women who cannot tolerate menstrual cramps. This could not be further from the truth. Not only do men have the disease as well, but the pain can be so severe that often morphine or dilaudid is not enough to subdue it. In my experience, nurses have rolled their eyes when I described the intensity of the pain. AIP patients are tired of not being heard and believed when we try to explain what’s going on.

12. King George III might have had it.

Via oneminutehistory.blogspot.com

King George III was long considered mad, but now we know that he might have had Porphyria.

13. The lack of public knowledge can be frustrating.

American Porphyria Foundation / Via americanporphyriafoundation.com

Every time I tell people that I have Porphyria I have to follow up with a long explanation of the disease because most people have never heard of it. Efforts have been made to increase awareness of the disease, especially by the American Porphyria Foundation that hosts a National Porphyria Awareness Week every April.

14. The lack of medical knowledge is equally frustrating.

ThinkPorphyria / Via thinkporhyria.com

Many things about Porphyria are still a complete mystery. Why certain people have recurring Porphyria attacks while others never experience so much as abdominal pain is unknown. It is also unclear why certain drugs can precipitate attacks while others do not. There is limited research, and there is also a lack of agreement among health care professionals about the best course of treatment for the disease. Hopefully, with increased awareness, all of the questions will eventually be answered.

15. The American Porphyria Foundation is a great resource.

American Porphyria Foundation / Via porphyriafoundation.com

The APF has a lot of information and resources for patients and families suffering from every kind of Porphyria.