In depth
Relapsing polychondritis and blood tests
In one cohort of 87 people with this disease, 72 percent were misdiagnosed at the first visit. Two thirds of that cohort met neither of the two published sets of criteria for the illness they were later confirmed to have, which is the finding that shapes this whole page. What follows is how the diagnosis gets made in practice, and which scans get repeated afterward.
What the research found.
One retrospective cohort reviewed 87 people with this disease, and 93 percent of them were first admitted by a specialty other than rheumatology. Twenty-eight percent were correctly diagnosed at the first visit and 72 percent were misdiagnosed. Fifty-seven of the 87, which is 65.5 percent, met neither the Michet criteria nor the Damiani criteria for the disease they had.
One systematic search looked for practice guidelines in this disease. It found 20 citations and no guidelines among them. It named eleven areas of unmet need, including how to make the diagnosis, how to treat, how often to follow up, and what tools to use for disease activity and damage.
One study of 295 patients found airway involvement in 70.5 percent during the disease course. The larynx was the most common site, at 82.2 percent of those. A quarter of people with laryngeal involvement, 25.7 percent, had a tracheotomy for worsening breathlessness or acute blockage.
One study looked at heart involvement among inpatients with this disease and found it in 24.1 percent of them. Four things were independently associated with it, and three of those were age, involvement of the brain and nerves, and disease lasting over 4 years. The fourth was a neutrophil-to-lymphocyte ratio above 6.41, which comes off an ordinary blood count.
One study scanned the aorta in 172 people with this disease. Aortic involvement was found in 11 of them, which is 6.4 percent, appearing a median of 2 years after diagnosis. Over follow-up 3 resolved, 3 improved, 4 stayed the same, and 1 worsened.
What the number means.
| Test | What it measures | How it performs here | What it can't do |
|---|---|---|---|
| Any single blood test | Varies by test | This site holds no source on how any of them performs in this disease | Make the diagnosis. No blood test here does |
| The Michet or Damiani criteria | Two published rule sets for classifying this disease | 65.5 percent of 87 confirmed patients met neither | Be used to rule the disease out |
| Neutrophil-to-lymphocyte ratio | The balance of two white cell types on a routine count | Above 6.41 it was associated with heart involvement in one study | Be used alone. It was one of four factors in that model |
| Heart ultrasound | An ultrasound of the heart | Heart involvement reached 24.1 percent of inpatients in one study | Be a one-off. Its authors call for regular scanning |
| Aortic CT scan | A scan of the main artery from the heart | Aortic involvement in 6.4 percent of 172 scanned, at a median of 2 years | Be done once at diagnosis. It appeared later in most cases |
| Airway assessment | Looking at the larynx and windpipe | Airway involvement reached 70.5 percent over the disease course | Wait. Breathlessness predicted a tracheotomy risk of 2.35 |
A reference range is not a target. Where a range on this page differs from the one your laboratory prints, the difference is explained above and sourced below. Where no trial has tested a target, this page says so rather than offering one.
A disease found by recognition, not by a test
No blood test makes this diagnosis, and no source we hold measures how one performs here. So no figure appears for any of them, and that's missing from what we hold rather than a verdict on the tests. What the studies on this page show instead is how the diagnosis goes in practice, which turns out to be more useful and harder reading.
One retrospective cohort reviewed 87 people with the disease, and 93 percent of them were first admitted by a specialty other than rheumatology. That's almost all of them, and it isn't an accident of that one hospital. It follows from where this disease starts, which is in an ear, a nose, an airway, or an eye.
So people with it reach ear, nose, and throat clinics first, along with eye clinics and chest clinics. Each of those specialties sees one piece of the picture, and the piece in front of them usually looks like something a great deal commoner than this. Putting the pieces together is what makes the diagnosis, and no test shortcuts it.
How often it gets missed
In that same cohort of 87 people, 28 percent were correctly diagnosed at the first visit and 72 percent were misdiagnosed. That's nearly three in four, and it's the figure most people find hardest to read on this page. It deserves some care in how you take it.
That figure isn't a criticism of the clinicians involved, and it shouldn't be read as one. It's a property of a rare disease that appears across several specialties at once, with each of them seeing a fragment rather than the whole. A doctor who has met two cases in a career is working with a genuinely different prior than one who sees a hundred.
What makes the number worse is the finding in the next section. It explains why a careful clinician working carefully to the published rules will still miss most of the people who have this disease. That's worth reading twice, because it changes what a negative answer from those rules is worth.
The criteria miss most people who have it
Two published sets of criteria exist here, known as the Michet criteria and the Damiani criteria. Both were written to decide who belongs in a research study rather than to settle who has the illness in front of a clinician. That distinction sounds academic until you see what happens when the rules get used the other way round.
In that cohort of 87 confirmed patients, 57 of them met neither set, which is 65.5 percent. All 87 had the disease, and that isn't in question, because the cohort was assembled from people whose diagnosis had been established. So two thirds of the people who turned out to have this illness did not meet either published definition of the thing they had.
Read that once more, because it doesn't say the criteria are imperfect at the margins. It says that neither one of the two published definitions captured most of the people the disease was later confirmed in. Those are different claims, and the second is a great deal more consequential for anybody who is still appearing in the waiting phase of a diagnosis.
So the criteria do a reasonable job of deciding who goes into a study, and a poor job of ruling the disease out in a clinic. A clinician using them as a filter will miss most cases, which is what the figure says rather than what we've inferred from it. That single sentence is the reason this page exists in the shape it does.
There's no guideline either
One systematic search looked for practice guidelines in this disease and found 20 citations in the whole literature, not one of which was a guideline. That absence is unusual even by the standards of a rare illness. So the group listed eleven areas where nothing exists at all, rather than writing recommendations there was no evidence to support.
Those eleven cover how to make the diagnosis, how to treat, how often to follow up, and how often to screen. They also cover pregnancy, disease starting in childhood, cancer risk, and infection prevention. They include what to do about anesthesia when the windpipe is involved, which is the one that tells you most about this disease.
Another of the eleven is tools for measuring disease activity and damage, so there's no agreed way to say whether you're getting better. That sounds like a technical complaint and it isn't one. Without an agreed activity measure, no trial can show a treatment works, and that's part of why the treatment evidence here stays thin.
The airway
This is the part of the page where speed counts more than anything else on it. One study followed 295 patients with this disease and looked at what happened to their airways over the course of the illness. Airway involvement occurred in 70.5 percent of them, which is far too high a number to treat as a rare complication.
Among the people whose airway was involved, the larynx was the most common site at 82.2 percent. A quarter of the people with laryngeal involvement had a tracheotomy, which is 25.7 percent of them, for worsening breathlessness or for sudden blockage. Those are the figures behind every line on this site telling you not to are on a breathing symptom.
One risk figure from that study is worth keeping in mind when you decide whether something is urgent. People who came in with breathing symptoms had 2.35 times the tracheotomy risk of people who came in some other way, from 1.23 to 4.50. The interval is wide, so the size of the effect is uncertain, and the direction of it is not.
So a change in your breathing or your voice is the thing to mention quickly rather than save for the next appointment. This is the one page on the site where waiting costs something that can't be recovered afterward. Nothing else here is written with that kind of urgency, and this is why.
The heart
One study looked at heart involvement among inpatients with this disease and found it in 24.1 percent of them. That's about one in four, in a group already sick enough to be in hospital, which is worth holding on to when you read it. It isn't the figure for everybody with the diagnosis.
Four things were independently associated with heart involvement in that study, and the first three are age, involvement of the brain and nerves, and disease lasting over 4 years. The fourth is a neutrophil-to-lymphocyte ratio above 6.41. That one is worth a note, because the ratio comes off an ordinary blood count and needs no extra test to look at.
It was one of four factors in a model rather than a test resting on its own, and 6.41 is that study's cut-off rather than a laboratory reference range. A reader can compute the ratio from a count they already have, which is why it needs saying twice. A number you can check against your own result is the kind that travels furthest from its source.
That study also describes two groupings that were largely mutually exclusive, which is the finding people tend to skip. Airway and chest wall involvement were significantly less common in the group with heart involvement than they were in the group without it, which is the opposite of what the authors expected. Its authors conclude that regular heart ultrasound is worthwhile, and that conclusion is theirs rather than ours.
The aorta
One study scanned the aorta in 172 people with this disease, and the aorta is the main artery leaving the heart. It gets scanned here because this disease can involve it, and because the involvement is quiet until it isn't. Aortic involvement was found in 11 of those 172, which is 6.4 percent.
It appeared a median of 2 years after diagnosis rather than being there at the start, which is the most useful thing in the whole study. The scans showed several different things among those 11 people. Two had aortitis alone, two had aortitis with an aneurysm, one had aortitis with widening, four had an aneurysm alone, and two had widening alone.
The sites were in the chest in 6 of them, in the abdomen in 2, and in both in 4. What happened next varied a great deal, and over follow-up 3 resolved, 3 improved, 4 stayed the same, and 1 worsened. Five people had a recurrence and one died of a ruptured abdominal aortic aneurysm.
The useful point for you is the timing rather than any of the individual counts. This turned up two years in on average, so a scan at diagnosis doesn't settle the question for good. It's a reasonable thing to ask about again later on, and the asking is the whole of what this section exists to prompt.
What to ask
Ask whether your heart has been scanned, and ask whether it's being scanned again on any schedule. Heart involvement reached 24.1 percent of inpatients in one study, and its authors call for regular heart ultrasound on the strength of that figure. The recommendation is theirs and this page only repeats it.
Ask about the aorta too, because it was involved in 6.4 percent of the 172 people scanned in that study. That was at a median of 2 years after diagnosis, so the question stays open after the first set of scans comes back clear. A clear scan at the start is good news about the start.
Ask which specialties are involved in your care, and ask who among them is coordinating the rest. In one cohort, 93 percent of people were first admitted by a specialty other than rheumatology, and a disease spread across several clinics needs somebody holding the whole picture. That person may be your rheumatologist, and it's worth knowing who it is either way.
Don't take failing the published criteria as an answer, because two thirds of the confirmed patients in that cohort met neither set. The criteria are a poor way to close a question that's still open, and that's the single most useful thing on this page. Everything else on this page is detail set alongside that one fact.
Common misconceptions.
Myth. A blood test will confirm this.
Reality. No blood test confirms this, and this site holds no source on how any individual test performs in the disease. One cohort of 87 people shows how hard the diagnosis becomes without a test to lean on. Seventy-two percent of them were misdiagnosed at the first visit, and 93 percent were first admitted by a specialty other than rheumatology, which is what a disease starting in an ear or an airway looks like.
Myth. There are criteria, so there must be a way to check.
Reality. Two sets of criteria exist and most confirmed patients don't meet either of them. In that cohort of 87 people, 57 met neither the Michet nor the Damiani criteria, which is 65.5 percent. So failing the criteria doesn't rule the disease out, and a clinician using them as a filter will miss most cases.
Myth. There'll be a guideline to follow.
Reality. There isn't one, and a systematic search for guidelines in this disease found 20 citations with no guidelines among them. It listed eleven areas of unmet need instead, covering how to make the diagnosis, how to treat, and how often to follow up. They also cover pregnancy and anesthesia when the windpipe is involved.
Myth. If my ears and nose are the problem, the rest can wait.
Reality. Two things here appear later rather than at the start, and both get looked for on purpose. Airway involvement reached 70.5 percent over the disease course in one study of 295 people. Aortic involvement was found in 6.4 percent of 172 people scanned, at a median of 2 years after diagnosis, so neither one is something a first visit rules out.
Myth. A routine blood count has nothing to offer.
Reality. One study found something in it, because among inpatients with this disease heart involvement reached 24.1 percent. A neutrophil-to-lymphocyte ratio above 6.41 was one of four things linked to it, alongside age, brain and nerve involvement, and disease lasting over 4 years. That ratio comes off an ordinary blood count, so it's an input to a model rather than a test in its own right.
Cautions specific to this condition.
- Report new breathlessness or a change in your voice quickly. Airway involvement reached 70.5 percent over the disease course. Coming in with breathing symptoms predicted 2.35 times the tracheotomy risk, from 1.23 to 4.50.
- Don't take failing the criteria as an answer. Two thirds of confirmed patients in one cohort met neither published set.
- Ask whether your heart has been scanned. Heart involvement reached 24.1 percent of inpatients in one study, and its authors call for regular heart ultrasound.
- Ask about the aorta as well. It was involved in 6.4 percent of 172 people scanned, at a median of 2 years after diagnosis rather than at the start.
- Expect to be seen by more than one specialty. In one cohort, 93 percent were first admitted by a specialty other than rheumatology.
- This page gives no reference range for any test. The one number on it, 6.41, is a study's cut-off rather than a laboratory range.
Discuss any change with the rheumatologist who manages your care. Nothing here replaces that conversation.
Questions patients ask.
Is there a blood test for this disease?
Not one that makes the diagnosis, and this site holds no source on how any individual blood test performs in this disease. So no figure appears for any of them here. What the studies on this page show instead is how the diagnosis gets made, which is by somebody recognizing the picture rather than by a result coming back positive. That's a slower route and it's the only one there is.
How often is it missed?
Often, on the one cohort that measured it, which reviewed 87 people with the disease. Twenty-eight percent were correctly diagnosed at the first visit, 72 percent were misdiagnosed, and 93 percent were first admitted by a specialty other than rheumatology. That's what you'd expect from a disease starting in an ear, a nose, an airway, or an eye. Each specialty sees a fragment that looks like something commoner.
What about the diagnostic criteria?
Two sets exist and most confirmed patients don't meet either one of them. In that cohort of 87, 57 people, or 65.5 percent, met neither the Michet nor the Damiani criteria. That's a striking figure, and what it means is that the criteria are useful for classifying people in a study and poor at ruling the disease out in a clinic. Failing them is not an answer to anything.
Is there a guideline my team can follow?
No, and a systematic search found 20 citations in this disease with no practice guidelines at all among them. It named eleven areas of unmet need, which include diagnosis, treatment, and how often to follow up. They include pregnancy and disease starting in childhood, along with cancer risk and the tools a team would need to measure disease activity at all. That list is the field's own account of what it still lacks.
What scans get done, and why?
Two come up in these studies, and the first is a scan of the aorta. One study scanned 172 people and found aortic involvement in 6.4 percent, appearing a median of 2 years after diagnosis rather than at the start. The second is a heart ultrasound, and one study of heart involvement found it in 24.1 percent of inpatients. Its authors call for regular heart ultrasound on the strength of that.
Does an ordinary blood count tell my team anything?
One study suggests it contributes something, though not on its own. Among inpatients, a neutrophil-to-lymphocyte ratio above 6.41 was one of four things linked to heart involvement, alongside age, brain and nerve involvement, and disease lasting over 4 years. That ratio comes off a routine count, so it costs nothing extra to look at. It was one input to a model rather than a test anybody would order by itself.
What should I report straight away?
Anything about your breathing or your voice, and without waiting for a routine appointment. Airway involvement reached 70.5 percent over the disease course in one study of 295 people, and the larynx was involved in 82.2 percent of those. A quarter of them had a tracheotomy, which is 25.7 percent. Coming in with breathing symptoms predicted 2.35 times that risk, from 1.23 to 4.50.
References.
- Zhang L; Wu TG; He YJ et al. Diagnosing relapsing polychondritis remains a common challenge: experience from a Chinese retrospective cohort. Clin Rheumatol. 2020;39:2179-2184. 10.1007/s10067-019-04852-3Journal Article
- Rednic S; Damian L; Talarico R et al. Relapsing polychondritis: state of the art on clinical practice guidelines. RMD Open. 2018;4:e000788. 10.1136/rmdopen-2018-000788Systematic literature review for clinical practice guidelines in relapsing polychondritis
- Chen N; Zheng Y. Characteristics and Clinical Outcomes of 295 Patients With Relapsing Polychondritis. J Rheumatol. 2021;48:1876-1882. 10.3899/jrheum.210062Retrospective cohort of 295 patients with relapsing polychondritis at Beijing Tongren Hospital
- Yin R; Zhao M; Xu D et al. Relapsing polychondritis: focus on cardiac involvement. Front Immunol. 2023;14:1218475. 10.3389/fimmu.2023.1218475Screening of patients with relapsing polychondritis hospitalised between December 2005 and December 2021 at Peking Union Medical College Hospital
- Le Besnerais M; Arnaud L; Boutémy J et al. Aortic involvement in relapsing polychondritis. Joint Bone Spine. 2018;85:345-351. 10.1016/j.jbspin.2017.05.009Multicentre comparative study
- Pallo PAO; Levy-Neto M; Pereira RMR et al. Relapsing polychondritis: prevalence of cardiovascular diseases and its risk factors, and general disease features according to gender. Rev Bras Reumatol Engl Ed. 2017;57:338-345. 10.1016/j.rbre.2017.02.003Cross-sectional single-centre study of 30 relapsing polychondritis cases seen between 1990 and 2016
This page gathers the published research on this subject into one place. The studies behind it were published between 1989 and 2026, and every figure links to the paper it came from. Those studies were peer reviewed. This summary of them was not. Dr. Sarah Luebker is reviewing these pages one at a time and has not reached this one yet, so it carries no medical review date and nothing here is her opinion or her advice to you. Each page gets updated as she reaches it. It is here in the meantime because the science is worth having in one organized place that is easy to find and easy to read. Talk to your own clinician before acting on any of it.
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