Relapsing polychondritis: symptoms, diagnosis and treatment

Cartilage is the tough, flexible tissue found in the ears, nose, windpipe, ribs and joints. In relapsing polychondritis (RP) the immune system repeatedly attacks it, causing inflammation that comes in flares and, over time, can damage the structures involved. Contact, a UK charity for families of disabled children, describes it as a rare episodic or progressive condition caused by inflammation of cartilage or other connective tissue, including the ears, nose, throat, joints, kidney and heart.

Vasculitis UK, whose leaflet was written by London hospital specialists, says it occurs most often in people in their 50s or 60s, and the cause is not clear. It does not appear to run in families, although some people may have genes that increase their risk. Contact, whose text dates from 2006, says it occurs equally in middle-aged men and women.

RP is a body-wide illness and the picture varies between people and over time. Vasculitis UK lists common initial symptoms as pain and swelling in the ears that may become red. Eventually floppy ears, hearing loss, ear infections and balance disturbances with vomiting can occur. Throat pain, a hoarse voice and speech problems may appear, and the nose could feel blocked and become flatter, known as saddle nose.

• Painful, red, swollen ears, usually sparing the soft earlobe, sometimes both ears.

• Hearing loss, tinnitus, vertigo and balance problems.

• Nasal pain, blockage and a flattened nose bridge.

• Hoarse voice, throat pain, noisy breathing (stridor) and breathlessness.

• Joint pain and swelling, tiredness, weight loss and fever during flares.

• Less often, eye inflammation, leaky heart valves, kidney disease, nerve problems or skin rash.

There is no single blood test. Vasculitis UK says the diagnosis can usually be confirmed by a biopsy of inflamed tissue, but that sometimes the biopsy is not informative or is not needed because the doctor is sure of the diagnosis. Lung function tests and CT scans may help clarify the severity.

If a biopsy is not obtained, the diagnosis is still likely when a person has at least 3 of the following: inflammation of cartilage in both ears, pain and swelling in several joints, inflammation of the nose cartilage, eye inflammation, inflammation of the cartilage in the windpipe or throat, and hearing loss of the sensorineural type, tinnitus or vertigo. Because it can be mistaken for infection or other conditions, it is common for the correct diagnosis to take time.

A rheumatologist usually leads diagnosis, often with input from ENT, respiratory medicine and ophthalmology depending on which organs are affected.

Vasculitis UK says the best treatment for this rare disease is unclear, because it is difficult to find enough patients for research studies, and that treatment depends on which organs are affected and how seriously. It is often well controlled with methotrexate, with steroids for acute flares.

Vasculitis UK says outcomes vary a lot. People whose lungs are affected may have a shorter life span, whereas disease that is milder or responds quickly to treatment can have an excellent prognosis. It describes RP as often chronic but tolerable, even though many patients have some problems with hearing, eyesight or breathing.

The disease may flare from time to time and be controlled in between, or it may cause persistent symptoms and gradually more damage. Sometimes RP becomes quiet (in remission) temporarily. Regular review in a specialist clinic allows early changes in treatment.

Noisy breathing, difficulty breathing, a new hoarse voice that does not settle, severe chest pain or a rapidly painful red eye should be assessed urgently. If breathing is difficult, call 999 or go to A&E. A flare involving the airway can worsen quickly, and anyone with known RP should have a plan agreed with their team for what to do.

Contact your specialist team about new symptoms, fever or signs of infection, especially when taking immunosuppressant medicines.

Because RP is rare, it can be isolating. The Vasculitis UK leaflet lists a UK relapsing polychondritis support group, and Vasculitis UK itself offers information and a helpline. Keeping a symptom diary and photographs of ear swelling can help in clinic.

Medicines that suppress the immune system need monitoring blood tests and make infections more important to treat promptly. Vaccinations should be discussed with the team, and live vaccines are normally avoided on some treatments.

On the NHS the pathway is through the GP to rheumatology, with ENT, respiratory and eye specialists where needed. Some centres have vasculitis or autoimmune rare disease clinics that see people with RP.

A private rheumatologist may offer an earlier appointment or a second opinion, but treatments such as biologics and airway procedures are delivered through specialist centres. Share records between providers so that your treatment plan is not duplicated or contradicted.