Relapsing polychondritis

What the research found.

• A search of two big medical databases hunted for care guidelines in relapsing polychondritis and came back with none at all. It turned up twenty papers in total, which is the whole relevant literature that search could reach. Not one of the twenty was a guideline anybody could follow.

  Rednic and colleagues, RMD Open, 2018

• That review listed eleven things this illness still needs. One is care around surgery and anesthesia, because the windpipe can be involved. Another is the risk of tumors, blood cancers among them, which is on the list because nobody has settled it.

  Rednic and colleagues, RMD Open, 2018

• One study followed 295 patients, and airway trouble was present in 70.5 percent of them. The voice box was the commonest spot, at 82.2 percent, and a quarter of those people needed a hole made in the windpipe, at 25.7 percent. The main cause of death was the airway closing.

  Chen and colleagues, The Journal of Rheumatology, 2021

• In that study, people whose first symptoms were breathing symptoms were more likely to need that hole made. The hazard ratio was 2.35, with the true value somewhere from 1.23 to 4.50, at a P value of 0.01. The risk also rose 4.8 percent for every year younger a person was when it started.

  Chen and colleagues, The Journal of Rheumatology, 2021

• One hospital looked at its own inpatients with this illness, and the heart was involved in 24.1 percent of them. Four things went with that independently: age, brain and nerve involvement, a blood ratio above 6.41, and having had the illness more than 4 years. Its authors call regular heart tracings and heart scans necessary.

  Yin and colleagues, Frontiers in Immunology, 2023

• One study scanned the main artery of 172 patients, and eleven of them, or 6.4 percent, had something wrong with it. It turned up a median of 2 years after diagnosis, and five of the eleven had it come back. One died when an abdominal aneurysm burst.

  Le Besnerais and colleagues, Joint Bone Spine, 2018

What relapsing polychondritis is

Relapsing polychondritis is a rare inflammatory illness that goes after cartilage, which is the firm, bendy tissue in your ears, your nose, and your airways. The immune system targets that tissue wherever it sits in the body, which gives the illness a spread unlike almost anything else in rheumatology. Cartilage is where it goes, wherever that happens to be.

The ears are the classic spot, and during a bout the outer ear goes red, puffy, and sore. The earlobe stays fine, and that's a giveaway, because there's no cartilage in an earlobe. The nose can be involved too, and sometimes its form changes for good, while the cartilage holding the airways open is involved in a good share of people and brings the most serious consequences.

The joints, the eyes, the inner ear, the heart valves, and the kidneys can all be involved as well. The word relapsing says the rest, because this illness comes in bouts with quieter spells in between. Those quiet spells can run a long time.

The airway, and why anesthesia is different here

Rings of cartilage hold your windpipe and larger airways open, and when that cartilage swells or goes weak, the airway can close down or give way. That's what makes relapsing polychondritis more dangerous, and faster, than most rheumatic illnesses. Most of those threaten how you work over years, and this one can threaten your breathing over days.

That brings a practical point people are often not told. Putting in a breathing tube is harder and riskier when the airway cartilage is involved, and so is keeping the airway open while you're asleep for surgery. A doctor who doesn't know your diagnosis can't plan around it, which is why care around surgery is one of the eleven things this illness still needs.

So if you have this diagnosis, tell the surgery team in advance, even for a procedure that looks small. Have something in writing too, because an emergency room is where this fact is hardest to get across and where it counts most. A card in your wallet does work that memory won't.

New trouble breathing, noisy breathing, or a change in your voice all need a prompt look rather than a wait. Those are the symptoms where speed changes the outcome. Say the diagnosis first when you call, because most doctors won't have met it before.

Why there is so little to read

A search of two big medical databases went looking for care guidelines in relapsing polychondritis, run as part of the European Reference Network work on rare connective tissue diseases. It turned up twenty papers, and not one of them was a guideline. Twenty papers is the whole relevant literature that search could find.

The reviewers then listed eleven main things this illness still needs, and the list is worth reading in full, because a summary makes it sound smaller than it is. It covers how to make the diagnosis, how to treat it, how to manage pregnancy, and how to manage it in specific age groups including children. It covers whether people are sticking with treatment. It covers follow-up, which itself covers how often to screen for complications and which scan is best for each part of the body.

The rest of the list is care around surgery and anesthesia, the risk of tumors including blood cancers, preventing and treating infections, measuring how active the illness is and how much harm it has done, and asking patients how they feel. That is nearly the whole of medical care, set out as things nobody has settled. It also explains why hunting for information about this illness gets you nowhere, because the blank you keep hitting is real.

What monitoring involves

No guideline exists, so plans differ from one center to the next, and which scan is best and how often to screen are themselves on the list of unsettled things. One thing does hold everywhere, which is that the airway comes first, checked with scans and breathing tests. How often that should happen is still an open question.

Your hearing and balance can be involved, through swelling in the structures of the inner ear. Some people get eye inflammation, trouble with a heart valve, or kidney disease, and those get watched for. Which of them applies to you depends on what has been involved so far, which is why nobody can hand you a standard schedule.

Ask your team what their plan is, and ask what each test is looking for. That's a fair request rather than a challenge to anybody's judgment. In an illness with no protocol, the thinking behind the plan is worth having, and a good doctor will be glad to explain it.

Why there's no exercise figure here

Nobody has tested exercise in relapsing polychondritis, so there's no trial to report. What's published covers a few people at a time, and none of it compared a program against anything. So this page gives you no figure for it.

We've left those numbers off this page rather than printing them with a warning attached, and here's why. A figure from seven people reads on a page just like a figure from seven thousand, and you have no way to tell them apart. Knowing the research isn't there yet is more use to you than a number that can't hold weight.

That isn't a reason to sit still, though. Moving your body is sensible for the ordinary reasons, and most people with this diagnosis are on steroids, which brings its own advice about weight-bearing and strength work. What nobody can tell you is whether any of it does something for this illness in particular.

Living with an illness nobody has studied

The hard part here isn't only a medical one. A rare illness with no guidelines leaves you explaining your own diagnosis over and over, to doctors who have never seen a case, in rooms where decisions have to be made fast. That load falls on patients here more than it should.

Keeping your own record helps more than it ought to have to. Write down which features you've had, what treatment you've been on, what your scans showed, and who is running your care. The airway fact in particular belongs somewhere you can pull it out under pressure.

None of that replaces the guidance that doesn't exist. It's what there is in the meantime, and it's a good deal more than nothing. Plenty of people with this diagnosis end up being the best-informed person in the room, which isn't fair, and is also useful.

Questions patients ask.