Relapsing polychondritis

Relapsing polychondritis is autoimmune: the immune system, which should defend the body, attacks part of it instead. Cartilage is the tissue it singles out: firm yet flexible, it gives the ears and nose their form, gives the voice box and windpipe their stiffness, and cushions the joints. Each flare inflames the cartilage, and repeated flares can leave it softened and out of shape.

Nobody yet fully understands why it starts. There is no one known trigger; it cannot be caught, and it does not pass straight from a parent to a child. Middle age is the typical time of onset, and it is seen in both sexes, women a little more often. It is rare: in the UK fewer than one person in a million is diagnosed with it each year. It may come alone or with a second autoimmune condition, rheumatoid arthritis, lupus or a vasculitis such as Behçet's disease among them, so the assessment includes a careful look for anything of that kind.

Flares and better spells alternate, in the pattern typical of the condition. The features it can bring include:

• Pain, redness and swelling of the ear, except for the soft lobe, which has no cartilage and stays unaffected. After repeated flares the cartilage can soften until the ear droops (the floppy ear people speak of), and hearing and balance can be affected as well
• A tender bridge of the nose, and, once flares have recurred, a nose that has changed shape (the saddle-nose appearance)
• With the cartilage of the voice box or windpipe inflamed, hoarseness, cough, breathlessness or noisy breathing, the most serious form of involvement; of these, noisy breathing, or breathlessness that is getting worse fast or has you gasping, choking or unable to say a word, is a 999 or A&E emergency and a new hoarseness a same-day matter, as the When to seek help section sets out
• Painful joints or arthritis that can shift from one joint to another
• Pain where the cartilage of the ribs meets the breastbone
• Fever, tiredness and loss of weight with flares, for some
• Inflamed eyes, red and painful, most often the white of the eye (scleritis)
• The heart valves on occasion, and more rarely the aorta or the heart's rhythm

Some of these, not all, is the usual picture; for many people it is chiefly the ears and the joints.

No laboratory test proves relapsing polychondritis by itself. What the diagnosis turns on is the pattern: the ear or nose cartilage inflamed again and again, often over months or years, set against a careful history and examination. Rarity, and flares that die down on their own, often delay the diagnosis; many people have seen several doctors before the pattern is spotted. When the airway is the main site, the wheeze and persistent cough are easily labelled asthma: many people with this form of the condition are first seen in difficult-asthma clinics before the diagnosis is made.

Blood tests often pick up inflammation without pointing to its cause, though in some flares the markers stay normal, and no antibody is specific to the condition, so they add weight to the picture without proving it or ruling it out. A biopsy of the cartilage is not usually needed and is best avoided. Breathing tests and a CT scan of the voice box, windpipe and chest belong to the initial work-up whether or not the airway seems involved, since airway disease can be silent, and an ECG, which traces the heart's rhythm, and an echocardiogram look for involvement there; what those tests find shapes both how urgent the treatment is and what form it takes.

One condition in particular has to be kept in mind, and in men over 50 more than anyone: VEXAS syndrome. Described for the first time in 2020, it can inflame ear and nose cartilage in a way that looks very like relapsing polychondritis. A telling clue is a blood count that is low for no obvious reason, with red cells larger than normal (a macrocytic anaemia), found alongside the inflammation. When that pattern is there, a genetic test on the blood or the bone marrow that looks in the gene called UBA1 for the acquired change can separate the two. The distinction matters: VEXAS is treated differently and needs specialist input, and our guide to VEXAS syndrome has the detail.

A painful or swollen joint can be scanned for inflammation during the visit, since point-of-care ultrasound is part of the consultation with Dr Borukhson; there is more about the scan on the ultrasound clinic page.

Two things set the treatment: the activity of the condition, and the parts of the body it has reached. Steroids, which quieten inflamed cartilage quickly, are what usually settle a flare; a flare confined to the ears, the nose or the joints is usually settled with a short course, and more serious involvement is treated more intensively and for longer.

When the flares keep returning, the aim moves from treating each one to stopping the next. To keep the condition quiet while the steroid is being tapered, a steroid-sparing medicine that calms the immune system is used, methotrexate or azathioprine for example. Biologic medicines are an option for the cases that those do not bring under control; each is aimed at one part of the immune system.

The voice box and windpipe need particular attention when they are involved: airway specialists join the care, and the airway is watched as the inflammation is treated. Whatever the stage, the aims are constant: settle each flare promptly, protect the cartilage from lasting damage, and keep the condition in check on the least long-term medication that will do it.

Relapsing polychondritis can reach the airway, the eyes, the ears and, less often, the heart and lungs, so alongside rheumatology its care can involve ear, nose and throat surgeons, and lung, eye and heart specialists. Dr Borukhson practises within a world-renowned tertiary centre, with ready access to consultant colleagues in the other specialties this condition may call on. Where it helps, she can bring those specialists in directly, and particularly complex cases can go to a multidisciplinary team meeting (MDT) with minimal delay. Whenever more than one kind of expertise is needed, the strands of your care can be drawn together and decisions reached promptly.

Between one flare and the next, some steady habits help to keep things on an even keel and to show up problems early.

• Stick to your prescribed medicines. Steroids are never stopped abruptly: the dose comes down step by step, under guidance.
• Learn how your flares behave. Photograph the ear or nose while it is inflamed and jot down when each flare came; at review, that record is a real help with treatment decisions.
• On immunosuppressants, keep infection at bay. Stay up to date with vaccinations; a fever, a suspected infection, or contact with measles, chickenpox or shingles is a same-day matter, as the next section says.
• Report any change in your voice or your hearing to your GP, your rheumatology team or NHS 111 the same day; treat sight lost suddenly and completely, and noisy or failing breathing, as a 999 or A&E emergency, as the next section says; and take any other change in how you see to an eye casualty or urgent eye clinic the same day; in pregnancy, any change in sight, blurring or flashing lights among them, is also for your midwife or maternity unit straight away, since it can be a sign of pre-eclampsia. In those areas, quick treatment counts for most.
• Do not miss follow-up or blood tests. Safe supervision of the condition and of the medicines depends on them.

Early recognition, and prompt treatment of each flare, give many people long stretches of feeling well and staying active between flares. The outlook does vary from person to person, and because the airway, heart and lungs can be involved, regular specialist review and monitoring are an important part of staying well. Pregnancy is usually uneventful with relapsing polychondritis, but plan it with your team, so that medicines such as methotrexate are changed beforehand and your vaccinations are brought up to date; our guide to arthritis, autoimmune conditions and pregnancy has more.

Because the airway, the eyes and the heart can be involved, some symptoms in relapsing polychondritis cannot wait for the next appointment.

Treat any of these as a 999 or A&E emergency: call 999 and do not drive yourself to A&E.

• Stridor or any noisy breathing, stridor being a harsh, high-pitched sound as you breathe in
• The throat or windpipe seeming to shut
• Breathlessness that is severe, with gasping, choking or no breath to get words out; coughing up blood; or breathing that is getting worse fast, since the airway can narrow when its cartilage is inflamed
• Severe illness with suspected sepsis: a high fever with shaking, confusion, rapid breathing, or feeling dramatically worse over hours
• With a fever or feeling unwell, a rash that does not fade when you press it, a stiff neck with eyes that cannot bear bright light, or skin, lips or tongue turning blue, grey, pale or blotchy, since these can be signs of meningitis or sepsis; on black or brown skin the rash and the change of colour may be easier to see on the palms of the hands or the soles of the feet
• Chest pain that is crushing, tight or like a pressure, that spreads to an arm, the jaw, the neck, the stomach or the back, that comes with breathlessness, sweating, feeling sick or feeling light-headed, or that came on suddenly and does not go away
• Palpitations happening now that do not stop, or that come with chest pain, breathlessness, feeling faint or fainting, since a heart whose muscle or rhythm is affected has to be checked at once
• A blackout, since the heart's rhythm or its valves can be affected
• A rash that spreads across the body, skin that blisters or peels, or lips, mouth or eyes that turn sore or swollen, since this can be a severe reaction to a medicine, such as Stevens-Johnson syndrome, which needs treating in hospital straight away
• Sudden severe pain in the abdomen or back, since the aorta can be involved and a weakened stretch of it can tear or leak
• Sudden weakness or numbness on one side, a drooping face or difficulty speaking, a sudden severe headache, sudden confusion or a seizure, or sudden loss of vision, any of which can be a stroke, even if it stops after a short time, and in a small minority the condition inflames the lining of the brain, which can look the same
• An eye that suddenly and completely loses its sight
• Vomiting that will not let your tablets stay down, or, during an illness or after an injury, becoming very drowsy or confused, or fainting, after more than a few weeks on steroid tablets, or repeated courses or injections in the past year, since your body may be running short of cortisol and the steroid may need to be given by injection; have your NHS Steroid Emergency Card ready
• Lips, mouth, throat or tongue that suddenly swell, a throat that feels tight, very fast breathing or a struggle to breathe or to swallow, skin, tongue or lips turning blue, grey or pale (on black or brown skin this may be easier to see on the palms of the hands or the soles of the feet), becoming suddenly very confused, drowsy or dizzy, or fainting and not being able to be woken, since this can be a severe allergic reaction, anaphylaxis, which can follow a dose of any medicine
• Vomiting blood, or bleeding from the back passage that is heavy or will not stop, most of all with faintness, confusion or pain in the abdomen, or vomit that is black or dark brown, since a stomach ulcer on prednisolone can bleed
• Serious harm you have already done to yourself, such as an overdose, or a feeling that you may be about to harm yourself, since you need help to keep you safe now

Any of these needs an assessment that is urgent, on the same day, from your GP, your rheumatology team or NHS 111:

• A fever, or feeling generally unwell, on immunosuppressant, biologic or steroid treatment, since an infection has to be treated early
• A joint that is hot and swollen, with a fever or feeling unwell, since an infected joint has to be ruled out at once, at A&E or through NHS 111
• A joint that has become hot and very swollen suddenly, or is worsening quickly, even without a fever, since an infected joint does not always announce itself with one; a joint that will take no weight at all, or that cannot be moved, is a 999 or A&E emergency, whether or not there is a fever
• A new red, painful eye, or sight that has blurred, dimmed or changed, which needs an eye casualty or urgent eye clinic the same day, as does an eye that light hurts, since scleritis and the other kinds of eye inflammation the condition causes can threaten sight; in pregnancy, any change in sight, blurring or flashing lights among them, is also for your midwife or maternity unit straight away, as the pregnancy line below says, since it can be a sign of pre-eclampsia
• A fever that arrives with a flare, even if you take no medicine that lowers your immunity, since an infection often rides alongside a flare and is treated as one until it has been ruled out
• New chest pain, new palpitations, or breathlessness that is new or getting worse, since the heart's valves and the aorta can be involved; palpitations happening now that do not stop, or that come with chest pain, breathlessness, feeling faint or fainting, belong to the first list, and so does breathing that is getting worse fast, in pregnancy too; in pregnancy, breathlessness that comes on suddenly, or when you lie down, or with dizziness, is for your midwife or maternity unit straight away, as the pregnancy line below says
• A persistent dry cough with a fever, with new breathlessness, or that is worsening over hours to days
• A new hoarseness or change in your voice, since inflammation of the voice box is the most serious form of the condition and is treated without delay
• Hearing loss that has come on suddenly, or dizziness or a spinning sensation that is new, since the inner ear can be involved and sudden deafness has to be treated at once
• Thoughts of ending your life or of hurting yourself, or harm you have done to yourself that is not serious, short of the line in the first list, which steroids can bring on: ask your GP to see you that day or call NHS 111, and Samaritans answer at any hour on 116 123
• A marked change in mood or behaviour, confusion, or seeing or hearing things that are not there, on steroid treatment, since prednisolone can do this, the more so the higher the dose; confusion that comes on suddenly is a 999 or A&E emergency, as the first list says, and so, after more than a few weeks on steroid tablets, or repeated courses or injections in the past year, is becoming very drowsy or confused during an illness or after an injury
• Unusual thirst or hunger, passing urine more often, or feeling sleepy or confused, on steroids, or swelling of the arms or legs, bruising or bleeding that is not normal, black or dark red stools, severe stomach pain, severe back pain, a severe upset stomach, being sick, or very bad dizziness, since each can be a steroid effect that needs checking without delay; pain in the abdomen or back that comes on suddenly and severely is a 999 or A&E emergency, as the first list says, and so, after more than a few weeks on steroid tablets, or repeated courses or injections in the past year, is vomiting that will not let your tablets stay down, or, during an illness or after an injury, becoming very drowsy or confused, or fainting; in pregnancy, bleeding that is not normal, and stomach pain that is severe, belong to the pregnancy line below
• Contact with measles, chickenpox or shingles, since these infections can be severe on steroids and a medicine to protect you may be needed
• Being near someone with measles, chickenpox or shingles, while you take a medicine that weakens the immune system, since measles and chickenpox can be dangerous when the immune system is weakened, and you can catch chickenpox from someone with shingles if you have never had chickenpox; NHS 111 can tell you what to do that day
• In pregnancy, any bleeding, stomach pain that is severe or does not go away after a rest, reduced baby movements, a severe headache or visual disturbance, sudden swelling of the face, hands, legs or feet, or breathlessness that comes on suddenly, or when you lie down, or with dizziness: contact your midwife or maternity unit straight away, whatever the time; bleeding that is heavy, or that comes with severe pain in the tummy, pain in the shoulder, or feeling sick, faint or dizzy, or passing out, is a 999 or A&E emergency: call 999 and do not drive yourself to A&E; pain in the abdomen or back that comes on suddenly and severely is a 999 or A&E emergency, as the first list says
• A high temperature in pregnancy, whatever medicines you are taking, since a fever can be a sign of an infection that needs checking; your midwife or maternity unit can advise
• In pregnancy, contact with someone who has an illness with a rash, measles, chickenpox and shingles among them, whatever medicines you are taking, since some of these infections can harm an unborn baby: ring your midwife or maternity unit, or your GP, straight away

A fresh flare of pain and swelling in the ear or nose, or a cough that lingers, calls for a prompt review with your rheumatology team, without waiting for a routine slot.

Symptoms that are stable and settled, and routine questions about medicines, will keep until a planned appointment. If you take methotrexate, a steroid or a biologic, the warning signs that belong to each are set out in our guides to methotrexate, DMARDs, steroids and biologics and JAK inhibitors. If you are in any doubt, get checked; that is always the safer course.

Rare as it is, and with flares that can settle on their own, relapsing polychondritis is often diagnosed late: in the UK the typical wait from the first symptom to the diagnosis has been about two years, and far longer when the airway was the first site. Each untreated flare can soften the cartilage of the ear or nose a little further, until the damage is beyond recovery, and airway involvement that goes unrecognised is the gravest risk the condition carries. What a careful specialist assessment offers is recognition of the pattern, a check for any second autoimmune condition, the right tests for the airways and the eyes, and a plan that deals with each flare promptly and aims to head off the next. An ear or nose that has been painful and swollen more than once is sufficient reason for a considered rheumatology review, all the more so with joint pain or eye inflammation alongside.

Why is the earlobe spared when the ear flares?

Because only the firm upper part of the outer ear contains cartilage, and cartilage is what the condition attacks. The lobe is soft tissue with no cartilage in it, which is why it looks and feels normal while the rest of the ear is painful, red and swollen. That is a useful clue in itself: a flare of relapsing polychondritis characteristically stops where the cartilage ends, and a spared lobe, with no cut, piercing or other point of entry for germs, is one of the signs that point to the condition rather than to an infection.

What makes the diagnosis of relapsing polychondritis?

No single test makes the diagnosis. What it rests on is the pattern: cartilage of the ear or nose flaring again and again over time, taken together with a careful history and examination. No antibody belongs to relapsing polychondritis, one reason it is so often recognised late; what the blood often shows is inflammation, though a normal result does not rule the condition out. A cartilage biopsy is not usually needed and is not recommended. Breathing tests and a CT scan of the neck and chest are done at the outset even when the airway seems untouched, because airway involvement can be silent, and the heart is checked at the same time.

What can be done about relapsing polychondritis?

Steroids are the usual way to settle a flare, because they calm inflamed cartilage quickly. When flares keep coming back, the treatment turns to steroid-sparing immunosuppressants such as methotrexate or azathioprine, used to keep it steady and to cut the need for long-term steroids; biologic medicines are an option when it resists those. Involvement of the voice box or windpipe is the most serious form of the condition, and when it happens, airway specialists come into the care as part of a multidisciplinary team.

Can another autoimmune condition go with relapsing polychondritis?

Sometimes. Relapsing polychondritis can appear alongside another autoimmune condition, rheumatoid arthritis, lupus or Behçet's disease for example, and looking carefully for any second condition is part of the specialist assessment. Where a second condition is present, the treatment plan is built around both, and regular review helps to keep each in check.

What symptoms of relapsing polychondritis are an emergency?

Inflamed cartilage in the voice box or windpipe can narrow the airway, and the warning signs are any noisy breathing, a high-pitched sound on breathing in (stridor), and breathlessness that is getting worse fast, or that is so severe that you gasp, choke or have no breath to speak. That is a 999 or A&E emergency, and there is no time to lose, as are crushing chest pain, sudden severe pain in the abdomen or back, a blackout, sight lost suddenly and completely, the signs of a stroke (sudden weakness or numbness down one side, a face that droops, speech that will not come, a sudden severe headache, sudden confusion or a seizure), even if they stop after a short time, and a high fever with shaking, confusion, rapid breathing, or feeling dramatically worse over hours, since that can be sepsis. Call 999 and do not drive yourself to A&E. An eye that is newly red and painful, or any other change in your sight, goes to an eye casualty or urgent eye clinic that day, since eye inflammation left untreated can put sight at risk; in pregnancy, any change in sight, blurring or flashing lights among them, is also for your midwife or maternity unit straight away, since it can be a sign of pre-eclampsia. Among the other things that need an assessment the same day, from your GP, your rheumatology team or NHS 111, are a new hoarseness or change in your voice, hearing loss that has come on suddenly or new dizziness, a fever, whether you are on treatment or it has come with a flare, and a joint that is hot and swollen, which, if it comes with a fever or you feel unwell, goes to A&E or through NHS 111 rather than the surgery, and is a 999 or A&E emergency, whether or not there is a fever, if it will take no weight at all or cannot be moved. The ear or the nose flaring afresh should not wait for the routine appointment either, but be reviewed promptly by your rheumatology team. The lists under When to seek help hold the full set, the meningitis signs, palpitations happening now, a severe allergic or skin reaction to a medicine, vomiting blood or thoughts of self-harm on steroids, and the steroid signs among them.