Thursday, December 07, 2006

Acute Intermittent Porphyria

I swear the gods are sending me a message.

I think they want me to know about a disease known as acute intermittent porphyria. Why? Because this disease has been thrown in my face non-stop lately. The first -- and last -- time I encountered this entity was when I was studying for the boards. I learned it, took the test, and promptly forgot about it. I assumed I would never hear about it again.

Well the people up above would differ. In just the past week alone, acute intermittent porphyria was brought to my attention FOUR separate times. The first time was during my first interview, where a video providing an overview of the program showed a group of residents discussing a case, one of which had porphyria on the differential. It caught my attention, but only enough to think, "oh yeah, I forgot that existed."

The next time was on the show House, a medical show I occasionally watch, in which porphyria was the cause of the main patient's illness. After this episode I thought "OK, I guess I shouldn't forget remember this disease". Shortly afterwards I was watching an rerun episode of Scrubs, which I watch religiously, and one of their patient's abdominal pain was due to porphyria. This time I figured I had better remember it, having seen it twice in a row now. And finally, on my last interview one of the girls in the group (an extremely annoying one, too) said her previous interviewer pimped her by asking her to name the enzyme deficiency in acute intermittent porphyria.

What is up with this? Why, all of a sudden, am I having this obscure disease pop up everywhere I turn? I feel like Mother Nature is trying to indicate that one of my family members will get this disease ... or at the very least, one of my patients will.

In any case, it's safe to say this disease is permanently ingrained in my head.

In case you're wondering, acute intermittend porphyria is one of the porphyrias, which are a group of disorders caused by abnormalities in the production of hemoglobin (the molecule that carries oxygen in your red blood cells). It usually presents with acute abdominal pain, generally in young women. And the deficient enzyme is porphobilinogen deaminase.

I can't believe I looked this up.


Anonymous said...

Ahhhh Axis there is a God. We need you.

Anonymous said...

That's fucking hilarious. I remember studying for step one, that there are a million different kinds of porphyria, and I even remember how the page in Robbins looked. At the last minute/week or whatever, I decided it would be a waste of effort and brain space to go learn about them. It was a wise decision, none of them showed up on the boards, but now that you say someone brought it up at an interview...damn.

I'll have to look up if it's common here. I've never run across it at all. Do you guys have Behcet's disease? I was sure this was an obscure, ignorable thing - but I've seen 3 patients with it.

Anonymous said...

Goddammit - I had to go read about this now after this post, and now I think I have it.

Angelique said...

"The ultimate ignorance is the rejection of something you know nothing about and refuse to investigate"

- Dr Wayne Dyer

Why are people so resisitant to information? It is sad to know that my future as a porphyria patient depends on YOUR knowledge of this disease. Maybe you ARE getting a message to pay attention, maybe someone has actually heard MY prayers over the last 11 years for help for us patients who have this disease. I was diagnosed in 1995 and have encountered people like you for the last 11 years who believe they will never see a case of this disease. Do you want to know how many physicians that was? Each of them believing the same thing? How would you even recognize and treat it if you are not taught about it! There are NOT millions of kinds of the disease. There are approximately 8 forms. Each caused by a different error in heme synthesis, and causing their own symptoms.

The pain associated with acute prophyrias (AIP, HCP, VP) is some of the worst pain known, and it is also fatal. As a patient I can tell you, my only fear is you and encountering people like you when my life is in your hands. So as much as you complain about this disease being thrown in your face, just remember there are thousands actually suffering from it, some actually dying because phsyicians and medical professionals are not familiar with a disease that has been around for hundreds of years and researched since the 40's and earlier. I am not sure if you are aware of this, but there is NO federal register that contains the actual data of how many patients have this disease. That means that assuming it is rare or that you will never see a case is ignorant.

Ironically I just wrote an essay regarding the LACK of education about the disease in emergency rooms, not to mention medical schools. In it I discuss some of the common beliefs about porphyria. Such as the belief that it is so rare and the fact that professionals are more familiar with the mythical associations of porphyria, than they are FACTS about the disease that could save someones life.

Are you aware that enzyme testing for a particular form of porphyria called HCP is not even performed in the U.S. anymore? The reason? Too many positives. Intsead of specifying the test, it was abandoned and the physician in charge was replaced. Yes, you should definitly look into this...

That means that hundreds, even thousands of patients are NOT even being testing for that form of the disease at all. If they do have it, it is being misdiagnosed or ignored.

"the ambivalent msilf" stated "I decided it would be a waste of effort and brain space to go learn about them" regarding the porphyrias. How frightening and truly messed up this statement is. You, my friend are truly and willfully ignorant. God forbid your family on either side or any loved ones contain a latent or active gene for porphyria.

God forbid you work in the facility who receives me for my next attack that could be fatal. I will be praying much more...

Why Study or Research Porphyria?

Anonymous said...

Ambivalent it's not common here because the doctors aren't experienced enough to recognise it. Ever read Gary Boyds book on the genealogy of the people of the Mayflower? Never mind that there are thousands of folks in the USA with Royal genes, do doctors know nothing about genealogy? The gene is latent until it's "triggered". Since the treatment is avoidance of "triggers" how does it hurt to diagnose it? Another misconception is that one test will confirm whether you do or do not have it. Wrong. They don't test for HCP here anymore so if you have HCP and are tested for AIP it's a no brainer that the test will be negative. Different enzymes, different test results. With HCP by the time you make it to that three week appointment your levels may already have returned to normal. When I'm well my doctor says I'm in better health than most of his patients. You can't tell by looking at me that I have anything unusual. My mother died of it, my grandfather died of it, and I will die of it if I get a doctor like you in the ER. Or maybe not. Wouldn't you really like to be better than the rest?

Anonymous said...

I have told doctors I have it after having a "triggering" experience in May 2002 and I received no help since then (March 2007). They did not even mention it to me afterwards when I told them it was in my family, and that was the main reason I went to see them (at least 3 doctors one being an internal medicine doctor). My uncle is diagnosed with it and is receiving phlebotomy treatments every few months to alleviate the symptoms since the 80’s. It is the variegate porphyria form, I think, because the skin burns and blisters and there is psychological and physiological symptoms as well.

I would say it is worse for me before menses, but I feel better afterwards. Severe stress (moving, deaths, new job, etc) and the sun have also been main reasons I have attacks. I do get skin rashes/burning within 1-5 minutes in direct sun, hirtsuism on my face and body, average slow healing skin, thick scars, (no blisters because I stay out of the sun and use a high SPF). I also get severe abdominal pain in the sternum that feels like a knife or burning sensation (which has lessened with a high calorie diet and no fasting). When I was thinner and not eating much, I had very severe abdominal pains. Alcohol, smoking, garlic and onions make the pain severe and can bring on attacks. Sometimes my legs and arms stiffen like paralysis for a while and I hallucinate auditory and visual phenomenon. My hands suffer the worst and I can only compare it to feeling like Jesus being crucified to a cross with nails.

I was treated for depression and psychosis which was nice of my psychiatrist, but sometimes it just made it worse, especially already having sensitive skin. Now I don't use any of those drugs, but I am trying to avoid triggering things I mentioned. It's not easy, but I know more about what not to do by reading about it online and in medical journals and books. Certain prescription drugs are also triggering which could be life-threatening, so I keep a print-out in my wallet in case of an accident. I only hope and pray the ER doctors and EMT’s don’t ignore my little-genetic-marker-of-a-disease while giving me drugs in the IV or by pill.

I'm happy to say there is a place you can refer your patients, so check out the American Porphyria Foundation in Houston, Texas (online website available). I hope to go there someday and get help, but I know doctors like you need to know it is a rare disease, but there are people who have it. It’s not a fake disease and were not all Royals and definately not vampires. If you have a patient tell you they may have it, you need not ignore them- ever.

It has ruined my life. And all I want is help. So now you know what to do.

Potter said...

I am soangry that the doctors know nothing of this disease I am 52 just diagnosed recently only because my 31 year old daughter has been diagnosed with one of the acute porphyria so of course I tesyed for it and I am active my daughters are active my 4 year old grandson is active....and here not one of us has recieved any treatment I desperatly need to bring down my blood pressure stop the poisoning of my brain and my muscles and my pancreas and the periferal neuropathy....I'm in pain 24/7...not one of us in this family who are active which means in an attack are stuck in are attacks and the children who are latent still suffer with attack's like being handed a huge peice of cake when your starving but there is one problem the person who gave you this cake also gave it to you slightly out of reach and walked away knowing you can't reach one daughters doctor lied to her said her tests came back negative they were cancelled because they were handled wrong and there lab doesn't know how to do the damn test why did my youngest daughter get told a lie by her own doctor....that doctor has a GOD complex...isn't that mal-practic?????

Anonymous said...

I was in the hospital with severe abd, stomach, back and leg pain for 3 months in 1971 and basically my father is the one who requested the test for porphyria. He had heard of another individual having it with the symptom of wine colored urine. The hospital actually did the test incorrectly 3 times before it came back positive. During my stay they did exploratory surgery, gave me tons of pain meds which only increased my problems and pain. I entered the hospital at 127lbs and dropped to 83lbs and I was in the worse pain ever...I wanted to die to escape the pain! I am now 56 and have not been treated for an attack since 1997. If I eat frequently and get plenty of rest I live a fairly normal life. Doctors really need to consider testing patients when they can't make a diagnosis. Jan

Anonymous said...

Doctors like you sit back and watch people with A.I.P suffer and die! You are heartless and a shame to the medical community for even writing something like this.

You have no idea what it is like to live with this disorder. Your lack of effort to learn about this disorder says alot about how you will treat future patients period!

Science and life are not always black and white. You need to evaluate why you have choosen to go into the medical field to begin with.

God forbid you or anyone you love or care about have this disorder or any other rare type of disorder. And God forbid you be the doctor I meet in the E.R. for that matter; because if you kill me (due to the fact that you believe my disorder is a waste of your "BRAIN SPACE") my family will sue you so fast and hard that you will wish you had not even made a comment like this to anyone.

Open your mind you sad, pathetic excuse for a doctor!! Ever heard of Karma or could that be a waste of your precious "brain space" as well?

Anonymous said...

Wow, considering there are so FEW of us that have it, the only reason you should possibly learn about it is because it was on HOUSE! I'm so relieved. Maybe you should have a headupmyownassectomy. I'm sure it would alleviate your annoyance.

Anonymous said...

hello you there... i have read the posts,which sound very dramatic and now i have a question:
are there also people with milder forms of the different porphyrias existing??

Anonymous said...

Misdiagnosed with fibromyalgia until 3 days ago. Total porphyrins 2324!

I can't believe the amount of pain and psychosis.

Anonymous said...

My mom has been diagnosed at age 32. I have had ab pain my whole life in attacks. At age 16 I was tested with a neg result. NOW: I am 35 and the attacks have returned. Good thing I UNDERSTAND what this is about because I have seen countless doctors confused by my mention of Porphyria. SMH. (SHAME)

Joslin said...

I was diagnosed at age 18. Before I finally got the diagnosis, I was subjected to months of hospitilizations, a muscle biopsy for possible MS, scheduled for (but thankfully never received) a liver biopsy, hours of psychiatric "consults" in which I was yelled at to "sit up" and stop feigning my abdominal pain, daily doses of stelazine and adderral to treat my "symptoms" (which exacerbated them), and daily injections of unneeded insulin. Following my diagnosis of AIP, I was told to stay out of the sun, don't ever get pregnant, never consume alcohol, and expect to have a shortened life. Years later I learned that AIP was not ever affected by sun exposure, I did get pregnant, and am now in my 60's. Along the way, my somewhat glib disclosure of porphyria to various physicians has been met with a variety of reactions. Mostly "por-what?" And a couple of "YOU have progeria??" Seriously, porphyria is worth studying, even if it is for that ONE patient you may come across in your medical lifetime!

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