Disease Info

Relapsing Polychondritis (RP)

What is RP?
Clinical overview of the disease 

Relapsing polychondritis (RP) is a clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures (connective tissue) leading to cartilage damage along with joint, ENT, pulmonal and cardiovascular involvement. It may cause damage of affected structures that might lead to organ failure, is rarely life-threatening and very rarely a cause of life-threatening symptoms.  

Epidemiology 

RP is a very rare disease with an estimated prevalence of 9/1,000,000 and an incidence of 0.7/1,000,000/year (UK). It is not restricted in age or sex but mainly affects midle age persons. 

Risk factors and possible causes 

The cause of RP is not known but it shows features of autoinflammation, autoimmunity and granuloma formation. The risk of inheritance is not proofed yet but very few familiar cases have been reported.   Aside a primary RP, the clinical manifestation is seen as secondary disease in other autoimmune diseases like Rheumatoid Arthritis, Systemic Lupus Erythematodes, Sjögrens Syndrome or Hashimoto’s thyreoiditis. A secondary disease might be the first clinical sign in hematologic diseases like VEXAS Syndrome or Lymphoma. Overlapping features exist with Granulomatosis with polyangiitis and  Behcet’s disease. 

Common symptoms 

Symptoms (and their reported frequency) are:

• Ear chondritis (>90%)
• Musculoskelettal symptoms (50-75%)
• Chondritis of nose and upper airways with hoarse voice or stridor (50-65%),
• Inflammation of the eye (50%)
• Chondritis of lower airways with breathlessness on exercise (30%)
• Common sickness (20%)
• Inflammation of vessels and heart valvues (10-20%)
• Skin inflammation (10%) 

When to see a doctor? 

In undiagnosed RP the symptoms are usually impressive resulting in an urgent contact to the family doctor with referral to a specialist like otolaryngologist, pulmonologist, ophthalmologist, cardiologist, dermatologist, or rheumatologist. In established disease red flags or unexpected symptoms should lead to a referral. 

Diagnosis (path/tests/differential diagnosis) 

There is no single blood or imaging test that can be used to diagnose RP. The diagnosis is mainly retrospective and based upon a combination of (remitting/relapsing) clinical presentations like bilateral auricular chondritis, inflammatory polyarthritis, nasal chondritis, ocular inflammation, respiratory tract chondritis and audiovestibular damage.  Differential diagnosis are infections and other autoimmune diseases. 

Treatments overview 

There is no established standard therapy for RP. Treatment is based upon symptomatic therapy, prevention, both or even none. A healing is not to be expected. The natural course of the disease allows flares, remissions, relapse, chronic inflammation and damage. Symptomatic therapy could be based on non-steroidal anti-inflammatory drugs (e.g. Ibuprofene), steroids (cortisone) ond/or physiotherapy.  Long term flare prevention is described with Colchicine, Dapsone, Methotrexate, and Biologicals (anti TNF, anti IL-1, …). 

Prognosis 

The majority of RP patients will present with a moderate severity, 10% with a benign and 5% with a refractory disease. The prognosis of secondary RP e.g. in VEXAS depends on the course of the underlying disease. 

ERN ReCONNET publications are available for consultation.

Laurent Arnaud
Disease Coordinator

Lisa Matthews
ePAG representative

Simona Rednic
Disease Coordinator

Camelia Bucsa
ePAG representative

RP Patients’ organisations