In depth
Relapsing polychondritis and blood tests
In one cohort of 87 people, 72 percent were misdiagnosed at the first visit. Two thirds didn't meet either set of criteria for the disease they turned out to have.
What the research found.
One retrospective cohort reviewed 87 people with this disease. Ninety-three percent 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, or 65.5 percent, didn't meet the Michet or Damiani criteria.
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 commonest 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. Four things independently went with it. Three of them 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.
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 went with heart involvement in one study | Stand 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 carried 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. This site holds no source on how any individual test performs here. So no figure appears for any of them.
What the studies here show instead is how the diagnosis goes in practice. That turns out to be more useful than a test figure. It's also harder reading.
One retrospective cohort reviewed 87 people with the disease. Ninety-three percent were first admitted by a specialty other than rheumatology. That's almost all of them.
That makes sense once you know where this disease starts. It starts in an ear, a nose, an airway, or an eye. So people reach ear, nose, and throat clinics. They reach eye clinics and chest clinics.
How often it gets missed
In that same cohort of 87 people, 28 percent were correctly diagnosed at the first visit. Seventy-two percent were misdiagnosed. That's nearly three in four.
That figure isn't a criticism of the clinicians involved. It's a property of a rare disease. It appears across several specialties, each seeing a piece of it.
What makes it worse is the next finding. It's the most important thing on this page. Read it twice.
The criteria miss most people who have it
Two published sets of criteria exist for classifying this disease. One is called the Michet criteria. The other is called the Damiani criteria.
In that cohort of 87 confirmed patients, 57 of them met neither set. That's 65.5 percent. All 87 had the disease.
Read that carefully. Two thirds of people who turned out to have this disease didn't meet either published definition of it. Not one of the two.
So the criteria are useful for deciding who goes into a study. They're poor at ruling the disease out in a clinic. A clinician using them as a filter will miss most cases, and that's what the figure says.
There's no guideline either
One systematic search looked for practice guidelines in this disease. It found 20 citations. There were no guidelines among them.
It listed eleven areas where nothing exists. Those include how to make the diagnosis and how to treat. They include how often to follow up and how often to screen.
They also include pregnancy, childhood-onset disease, cancer risk, and infection prevention. They include what to do about anesthesia when the windpipe is involved. And they include tools for measuring disease activity and damage, so nobody has an agreed way to say whether you're getting better.
That last absence has a practical consequence. Without an agreed activity measure, nobody can run a study showing a treatment works. That's part of why the treatment evidence is thin too.
The airway
This is the part of the page where speed counts. One study followed 295 patients. It looked at what happened to their airways.
Airway involvement occurred in 70.5 percent over the disease course. Among those, the larynx was the commonest site. That reached 82.2 percent.
A quarter of the people with laryngeal involvement had a tracheotomy. That's 25.7 percent. It was for worsening breathlessness or for sudden blockage.
One risk figure from that study is worth carrying. People who came in with breathing symptoms had 2.35 times the tracheotomy risk. That's against people who came in some other way, from 1.23 to 4.50.
So a change in your breathing or your voice is the thing to report quickly. Don't save it for the next appointment. It's the one symptom here where waiting costs something that can't be recovered.
The heart
One study looked at heart involvement among inpatients with this disease. It found it in 24.1 percent. That's about one in four.
Four things independently went with it. Those were age and brain and nerve involvement. They were a neutrophil-to-lymphocyte ratio above 6.41, and disease lasting over 4 years.
The third of those is worth a note. The neutrophil-to-lymphocyte ratio comes off an ordinary blood count, so no extra test is needed to look at it. It was one of four factors in that model rather than a test on its own.
The same study describes two groupings that were largely mutually exclusive. Airway and chest wall involvement were significantly less common in the group with heart involvement. Its authors conclude that regular heart ultrasound is worthwhile.
The aorta
One study scanned the aorta in 172 people with this disease. The aorta is the main artery leaving the heart. It's scanned because this disease can involve it.
Aortic involvement was found in 11 of them, which is 6.4 percent. It appeared a median of 2 years after diagnosis. It wasn't there at the start.
The scans showed several different things. 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. Sites were in the chest in 6, in the abdomen in 2, and in both in 4.
What happened next varied. 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 is the timing. This turned up two years in, on average. So a scan at diagnosis doesn't settle the question for good.
What to ask
Ask whether your heart has been scanned. Ask whether it's being scanned again. Heart involvement reached 24.1 percent of inpatients in one study, and its authors call for regular heart ultrasound.
Ask about the aorta too. It was involved in 6.4 percent of those scanned. That was at a median of 2 years after diagnosis.
Ask which specialties are involved in your care. Ask who is coordinating them. In one cohort, 93 percent were first admitted by a specialty other than rheumatology, and a disease spread across several clinics needs somebody holding the whole picture.
And don't take failing the published criteria as an answer. Two thirds of confirmed patients in that cohort met neither set. That makes the criteria a poor way to close a question that's still open.
Common misconceptions.
Myth. A blood test will confirm this.
Reality. There isn't one here. This site holds no source on how any individual blood test performs in this disease. One cohort of 87 people shows how hard the diagnosis is without one. Seventy-two percent were misdiagnosed at the first visit. Ninety-three percent were first admitted by a specialty other than rheumatology.
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. In that cohort of 87 people, 57 of them met neither the Michet nor the Damiani criteria. That's 65.5 percent. So failing the criteria doesn't rule the disease out. A clinician using them as a filter will miss most cases.
Myth. There'll be a guideline to follow.
Reality. There isn't one. A systematic search for guidelines in this disease found 20 citations. No guidelines were among them. It listed eleven areas of unmet need. Those include how to make the diagnosis, how to treat, and how often to follow up. They include 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 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. Neither is something a first visit rules out.
Myth. A routine blood count has nothing to offer.
Reality. One study found something in it. Among inpatients, heart involvement reached 24.1 percent. A neutrophil-to-lymphocyte ratio above 6.41 was one of four things linked to it. The others were age and brain and nerve involvement. The fourth was disease lasting over 4 years. That ratio comes off an ordinary blood count. It's one input rather than a test.
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 carried a tracheotomy risk of 2.35, 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. This site holds no source on how any individual blood test performs in this disease, so no figure appears for any of them. What the studies here show is how the diagnosis gets made. That's by somebody recognizing the picture rather than by a result coming back positive.
How often is it missed?
Often, on the one cohort that measured it. Among 87 people with this disease, 28 percent were correctly diagnosed at the first visit. Seventy-two percent were misdiagnosed. Ninety-three percent were first admitted by a specialty other than rheumatology. That's what you would expect from a disease starting in an ear, a nose, an airway, or an eye.
What about the diagnostic criteria?
Two sets exist and most confirmed patients don't meet either. In that cohort of 87, 57 people, or 65.5 percent, met neither the Michet nor the Damiani criteria. That's a striking figure. It means the criteria are useful for classifying people in a study and poor at ruling the disease out in a clinic.
Is there a guideline my team can follow?
No. A systematic search found 20 citations and no practice guidelines at all. It named eleven areas of unmet need. Those include diagnosis and treatment. They include how often to follow up. They include pregnancy and disease starting in childhood. And they include cancer risk and tools for measuring disease activity.
What scans get done, and why?
Two come up in these studies. One study of 172 people scanned the aorta. It found involvement in 6.4 percent. That appeared a median of 2 years after diagnosis rather than at the start. One study of heart involvement found it in 24.1 percent of inpatients. Its authors call for regular heart ultrasound.
Does an ordinary blood count tell my team anything?
One study suggests it contributes. Among inpatients, a neutrophil-to-lymphocyte ratio above 6.41 was one of four things linked to heart involvement. The others were age and brain and nerve involvement. The fourth was disease lasting over 4 years. That ratio comes off a routine count, so it costs nothing extra to look at.
What should I report straight away?
Anything about your breathing or your voice. Airway involvement reached 70.5 percent over the disease course in one study of 295 people. The larynx was involved in 82.2 percent of those. A quarter of them had a tracheotomy. Coming in with breathing symptoms carried 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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