Home > Algemeen > Dealing with a rare disease such as relapsing polychondritis: “food for thought”…

Dealing with a rare disease such as relapsing polychondritis: “food for thought”…

Working as a rheumatologist in an average peripheral hospital means occasionally being confronted with conditions that are quite rare. One of these conditions is Relapsing Polychondritis (RPC), a quite typical condition in terms of how it can be recognised just based on the clinical presentation. However it is a condition not seen that foten at all in a regular rheumatology outpatient clinic.

The weird thing in medicine is that rare conditions happen to be encountered clustered in time in two or three cases shortly after one another, followed by a quite long period in which one does not see the same condition.

That’s also what happened to me for Relapsing Polychondritis. As a trainee in rheumatology I was actually lucky to meet two patients with Relapsing Polychondritis within a month’ s time. Ever since I have not seen a patient with Relapsing Polychondritis untill last month, and guess what…the case was followed by another one in the same month, so again “two-in-a-row” after not having seen RPC in about 4 years.

What made me write a blgpost on this is what naturally followed. You tell the patient the knowledge that you have on this rare condition at that moment and you promise the patient you will ask colleagues and search the current literature if you could add something and come back to the patient with your answer afterwards. Also you feel your rheumatology educated brain is being challenged and you are sort of excited in a “let’s solve this puzzle” state-of-mind. At least I was.

Having searched recent literature and having browsed the internet I noticed a few things.

As for Relapsing Polychnodritis:
-numerous case reports or a few case series being reported, with a wide variety of medication evaluated for efficacy in this conidtion
-but not a single answer in which drug to start with, and rather a trial-and-error search in each single patient
-some case reports actually included a long list of medications having been reported as succesfull in other cases but that did not succeed in the patient being described in the current case report
-lots to choose from, but, being a rare condition, no large placebo controlled trials or whatsoever
-and… then there was a single sort of case report on the internet by a female patient formerly suffering from Relapsing Polychondritis. She did not speak of medication at all but stronly argues for dietary measures to get rid of diseae flares and of any mentioned medication…. (Google “relapsing polychondritis” and you’ ll find How I Beat Relapsing Polychondritis)

As for rare disease in general:
-lack of large placebo controlled trials is inherent
-what IS the “evidence” in an era of advocated “Evidence-Based-Medicine” (EBM)
-who IS the expert when expert opinion is wanted in the absence of EBM?
-what evidence is there to rule out what this patient said on dietary influenced course of disease (is there?)
-(in general) is the influence of diet not heavily understudied by Western doctors, and is it not waved as “irrelavant” or “alternative nonsense” to easily by some of them?

As you see, just some thoughts that can come up only because of getting in a situation where one has to deal with rare dosease conditions. What is the right thing to do? Actually nobody knows it 100% for sure, what is known is merely empiric, like in classical medicine. Doctors report on how the patient with that rare condition did on medication X or Y and patients (this is rather modern empiric medicine!) share what measures (dietary or other) provided them relief from rare conditions, to let others (patients…and doctors?) judge for themselves.

To finish off: during my entire study Medicine in the Netherlands exactly 3 hours were spent on education on diet.

Given the fact how many times a patient suffering from a far more frequently encountered condition as e.g. rheumatoid arthritis asks me whether diet can be of any influence on the course of diseasse, I always admit to those patients that it is weird that I and my colleague doctors have studied the human body, but not what is put in in terms of food and drinks. On the other hand, we DO know about the influence of diet in gout (and we also understand the mechanism), and in terms of empiric medicine we DO NOT notice any pattern in anecdotical mentioned pros and cons of a wide variety certain diets in rheumatoid arthritis (so for this disease I don’t think there is a “one fits all” food solution).

I.e. I hope the reader does not conclude that I am advocating emphasizing the role of diet in frequent rheumatoid diseases such as arthritis, but does conclude that in rare diseases I feel ANY possible option to deal with the condition should be taken seriously, which includes the dietary advice given by that patient that suffered from Relapsing Polychondritis.

My current opinion is that “crowd-sourcing” -by using the internet and/or social media- can add to the opportunities a rheumatologist has a patient to offer when dealing with rare conditions. Just not everything we are dealing with in real life is that suitable to fullfill Evidence-Based-Medicine criteria, and it still has to be dealt with.

So I told my relapsing polychondritis patient what I found upon literature search and also what I found on the internet about the patient that advocated a diet change. More or less to say: this is the playfield, and this is the knowledge available in the absence of strong evidence for either certain drug or certain diet interventions.

  1. Stephanie O.
    23 May 2013 at 14:59

    As someone diagnosed with RPC a couple years ago, I feel you have hit the nail on the head! My husband is a physician so I am familiar with EBM but when trying to apply it to my decision-making regarding my condition, the concept breaks down. When it is complicated by increasing hypersensitivity and allergic-like symptoms…..the entire process falls apart and my daily regime is a constant flux of trial and error, reaction vs. protection and old-fashioned voodoo! I don’t even know what specialist to go to most of the time.

  2. Erin Calvo
    26 November 2013 at 01:57

    I was diagnosed earlier this year with RP (never heard it called RPC, just RP). I instantly joined 2 support groups on Facebook and connected with people all over the world with this disease. There are a lot of similarities in treatments, reactions, and a willingness to try anything that’s not dangerous (including dietary changes) just to get rid of the horrible pain associated with this disease. Mine is strange and doesn’t really affect my nose or ears, it affects my trachea and more specifically, my epiglottis. I used to be a heavy smoker, so it’s hard to know just how long this has been affecting me, but I know it’s been over 3 years. I suspected heavy mold as the culprit to my health issues (and it could have caused an infection that possibly “woke the disease”), and went to an Allergist after going in circles with one hospital, and she sent me to a group of docs that is now my “team” of docs. I find that many people who have RP are later diagnosed with one or several other issues as well. I personally have been diagnosed with Fibromyalgia, but believe I have a form of vasculitis as well. I had to send myself to an ENT and some other specialists, as the Rheumo doesn’t always think about it. I’m about to send myself to a Vascular specialist as well, as I’m getting no answers. It’s best to go to a doctor that specializes in what the RP is affecting as well, as they may be more aware of alternative surgeries and treaments that can help. Since I sent myself to an ENT, he sent me to a Larynx and voice specialist, who recently performed my surgery to trim down the surrounding tissue by my epiglottis that has been affecting my breathing and voice. So taking initiative is so vital in our treatment, though the correct insurance is also very important. Not all insurances allow that. Actually most people I have met are in control of their prednisone and their doctors allow them to have “emergency stashes”. It’s definitely a struggle to find the right treatment for the individual, and a long road at that, and many people develop allergies to their medications after a while, so they have to start that journey over again. It’s so complicated and there is a wide range of recommendations depending on the doctors. The best thing is for people to join these support groups and talk with others who have it. It’s a blessing as many people’s families do not understand the “invisible illnesses” (though not all symptoms are invisible, often they are). One thing is for sure. With this disease, your life is forced to change. Another great place for support is butyoudontlooksick.com . The spoon theory (originally written by a lupus patient) is a great way to describe the illness to loved ones. I’ve found that the majority of doctors don’t focus enough on the necessity for good support, the emotional needs that can greatly affect our symptoms (as stress seems to be a big factor in many flareups and complications).

    • Justine hudson
      19 March 2015 at 17:09

      What symptoms did you have with your epiglottis and trachea as I have had problems for 2 years without diagnoses, what made them suspect rp. My Drs don’t have a clue. My epiglottis appeared for no reason in the back of my throat and I can’t exhale well from my trachea. Would be grateful for some advice many thanks Justine

      • Erin calvo
        13 August 2015 at 20:01

        Changes in voice (froggy voice), having to clear my throat every time i took a drink, and the feeling of my throat closing up. I would see an ent to do a scope.

  3. Steve
    23 January 2014 at 05:43

    I was diagnosed with RP twelve years ago. I was lucky that the diagnosis was quick, but finding a drug that worked was trial and error at first by a patient physician. Then I went to visit Dr Jane Bruckner in Seattle https://www.benaroyaresearch.org/our-research/research-programs/translational-research-program/relapsing-polycondritis/relapsing-polycondritis-clinic who has a lot of experience and suggested new meds for me. Seeing an expert helps a lot, even so it has been a series of drugs as I start to not tolerate one or another after a few years. I guess all of us with RP are tiny experimental groups with no control group available.

  4. 21 February 2014 at 07:44

    Thank you so much for your post. My medical journey began when I developed Sheehan’s Syndrome and then my health went rapidly downward.
    After eight years with Sheehan’s Syndrome I was stricken with extreme rib pain and then a year later red ear.
    The doctor at the ER and at the hospital told me I must have a strap infections and after five days- no answers. Thankfully, my steroids were stressed dosed because of my pituitary failure/ sheehan’s.
    Unfortunately, I self diagnosed later that week at my internist office. I kept telling the doctors my ear lobes was not affected and that must be a big clue.
    I realize RP is rare but it can be extremely frustrating and painful.
    Thank you again for posting alternative ideas to battle RP- much appreciated!

  5. Jimorrison
    21 September 2015 at 15:26

    JIm Morrison I have RP. I have been on methotraxate for 7 yrs. Now it has effected my liver. So they are searching for a new drug.. My question is what is life expectance of this disease. How is lady doing who went on a vegetable diet?

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