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Relapsing polychondritis (RP) is a rare disorder and the aetiology remains unknown. It is often associated with autoimmune disorders, and the presence of antibodies to type II collagen suggests that it may be immunologically mediated. Between 25% and 35% of patients have other autoimmune diseases too.
The term 'relapsing polychondritis' was first used in 1960 to describe a very rare disease which is characterised by recurrent episodes of inflammation of cartilaginous structures and other connective tissues, which may involve many organs.It can involve all types of cartilage including that of joints, tracheo-bronchial tree, ear and nose and connective tissues rich in proteoglycans, such as in the heart, eye, blood vessels and inner ear.
- The incidence of RP is less than previously estimated, at around 0.71 per million population per year.
- The peak age of onset is 40 to 50, but it can strike at any age.
- Males and females appear to be equally affected, whereas in most autoimmune diseases there is a female preponderance.
- The disease has mainly been reported in Caucasians, although it can occur in all races.
The spectrum of clinical presentations may vary from intermittent episodes of painful and often disfiguring auricular and nasal chondritis, to occasional organ or even life-threatening manifestations like airway collapse.
The presence of auricular inflammation is characteristic of relapsing polychondritis and is an important diagnostic feature. The inflammation typically spares the auricular lobe as it is devoid of cartilage and this sign can aid in its differentiation from other causes of auricular inflammation.
It is a multisystem disorder and so can present in many ways:
- Weight loss.
- External ear pain (present in almost all cases).
- Dizziness and ataxia of vestibular origin.
- Hearing impairment.
- Arthralgia (this may affect any synovial joint. However, metacarpophalangeal, proximal interphalangeal and knee joints are the most commonly affected).
- Nasal pain and chondritis. Involvement of nasal cartilage can be seen in around half of cases and saddle nose deformity occurs in around 10% of cases.
- Hoarseness and difficulty talking.
- Glottic, subglottic and laryngeal inflammation and oedema.
- Airway involvement in around 505 of cases. Cough, dyspnoea, wheezing and choking.
- Costochondritis (may lead to joint dissolution and flail chest).
- Recurrent scleritis and episcleritis.
- Cardiovascular involvement including valve problems, pericarditis, myocarditis, myocardial infarction, aneurysms.
- Renal involvement in around 25% of cases; glomerulonephritis, glomerulosclerosis (associated with poorer prognosis).
- Nervous system involvement (rare), cranial nerve lesions, aneurysms.
As it is a rare multisystem disorder with no specific diagnostic test and numerous possible symptoms, a number of diagnostic criteria have been devised. The most widely used are the McAdam's criteria. The following features are sought:
- Recurrent chondritis of both auricles.
- Chondritis of nasal cartilages.
- Chondritis of the respiratory tract, involving laryngeal or tracheal cartilage.
- Non-erosive inflammatory polyarthritis.
- Inflammation of ocular structures.
- Cochlear or vestibular damage.
In addition, cartilage biopsy may occasionally be taken to confirm a compatible histological picture. Biopsy of cartilage is not to be undertaken lightly. It does not have its own blood supply and it heals poorly, if at all.
A number of conditions can resemble RP and may even occur in association with it. Granulomatosis with polyangiitis (Wegener's granulomatosis) and systemic lupus erythematosus often have to be excluded before a diagnosis of RP is entertained.
Other conditions may mimic the clinical presentation, including trauma, infections, allergic reactions and tumour.
There are no discrete investigations for the disease and the diagnosis is made using the agreed diagnostic criteria referred to above.
- During acute flares, various surrogate markers of inflammation may be raised, such as ESR and CRP.
- There may be an anaemia and leukocytosis. If there is anaemia at presentation, it implies a worse prognosis.
- Antinuclear factor (ANF) and rheumatoid factor are generally negative.
- Serum antibodies to type II collagen may be positive.
- Cartilage biopsy may show evidence of inflammation.
- Pulmonary function testing and flow volume loop.
- Bronchoscopy if there is respiratory involvement.
- Echocardiography to assess heart valve function.
- Cardiac catheterisation and angiography if there is cardiovascular involvement.
- CT scanning, especially spiral CT, may help to identify problems with the airways.
- MRI imaging may be useful to demonstrate inflammation in cartilage.
RP is commonly associated with a diverse collection of other diseases including:
- Granulomatosis with polyangiitis (Wegener's granulomatosis).
- Systemic lupus erythematosus.
- Hashimoto's thyroiditis.
- Primary biliary cirrhosis.
- Myasthenia gravis.
It is commonly found (35%) in association with a large number of other diseases as outlined above, the diagnosis of the associated disease usually preceding the diagnosis of RP.
Many systems can be involved and it is important to adopt a team approach with good communication between the specialists involved.
Because of involvement of auricular and nasal cartilage, counselling, support and specialist cosmetic advice may be required due to the change in facial appearance.
The rarity of the disorder has meant that few clinical trials have been performed. The choice of therapy is dependent on the severity of symptoms and the extent of disease.
- Corticosteroids remain the most commonly used therapeutic measure but, despite bringing relief from symptoms and reducing the severity and duration of relapses, they do not appear to alter the disease progression.
- Methotrexate is often effective.
- Emerging treatment options include the use of immunomodulatory agents such as adalimumab, abatacept and tocilizumab.[9, 10, 11]
- Collapse of upper airways may require tracheostomy.
- Those with heart valve disease may occasionally requiring aortic valve replacement.
Complications due to collapse of cartilage can include facial disfigurement and obstruction of airways. Structures in the ear and eye can collapse with devastating results. Vasculitis and unrelated malignancy are also common.
Complications include destruction of the thyroid cartilage, acute upper airway collapse and obstruction necessitating emergency tracheostomy.
Severe inflammatory changes affecting ocular tissues can lead to permanent damage and loss of vision. Any part of the eye can be affected. Scleritis can be particularly challenging to manage and may lead to globe perforation. Keratitis may also occur, leading to corneal perforation.
The disease follows a relapsing and remitting course with steady progression of the disease. The prognosis for any individual will vary considerably depending on which systems are involved and their response to therapy. With earlier recognition of this disease and optimal treatment, the prognosis has improved over recent years.
A laryngotracheobronchial involvement appears in nearly half of patients and is complicated by local obstructions, which may be life-threatening.
Cardiovascular involvement is seen in 24-52% of the cases and is the second most frequent cause of death in patients with RP.
Mortality in relapsing polychondritis is more than twice that of the general population.
The most common causes of death in these patients include infection secondary to corticosteroid treatment or respiratory compromise, systemic vasculitis and malignancy unrelated to relapsing polychondritis.
Further reading and references
Pearson CM, Kline HM, Newcomer VD; Relapsing polychondritis. N Engl J Med. 1960 Jul 14263:51-8.
Hazra N, Dregan A, Charlton J, et al; Incidence and mortality of relapsing polychondritis in the UK: a population-based cohort study. Rheumatology (Oxford). 2015 Jul 17. pii: kev240.
Melikoglu MA, Senel K; Relapsing polychondritis: inflamed joints and ears. Balkan Med J. 2015 Jan32(1):121-3. doi: 10.5152/balkanmedj.2014.14144. Epub 2015 Jan 1.
Sharma A, Gnanapandithan K, Sharma K, et al; Relapsing polychondritis: a review. Clin Rheumatol. 2013 Nov32(11):1575-83. doi: 10.1007/s10067-013-2328-x. Epub 2013 Jul 26.
Sharma A, Law AD, Bambery P, et al; Relapsing polychondritis: clinical presentations, disease activity and outcomes. Orphanet J Rare Dis. 2014 Dec 209:198. doi: 10.1186/s13023-014-0198-1.
Gorard C, Kadri S; Critical airway involvement in relapsing polychondritis. BMJ Case Rep. 2014 Sep 112014. pii: bcr2014205036. doi: 10.1136/bcr-2014-205036.
McAdam LP, O'Hanlan MA, Bluestone R, et al; Relapsing polychondritis: prospective study of 23 patients and a review of the literature. Medicine (Baltimore). 1976 May55(3):193-215.
Puechal X, Terrier B, Mouthon L, et al; Relapsing polychondritis. Joint Bone Spine. 2014 Mar81(2):118-24. doi: 10.1016/j.jbspin.2014.01.001. Epub 2014 Feb 18.
Navarrete VM, Lebron CV, de Miera FJ, et al; Sustained remission of pediatric relapsing polychondritis with adalimumab. J Clin Rheumatol. 2014 Jan20(1):45-6. doi: 10.1097/RHU.0000000000000063.
Peng SL, Rodriguez D; Abatacept in relapsing polychondritis. Ann Rheum Dis. 2013 Aug72(8):1427-9. doi: 10.1136/annrheumdis-2013-203319. Epub 2013 Apr 20.
Koryurek OM, Kalkan G; A new alternative therapy in dermatology: tocilizumab. Cutan Ocul Toxicol. 2015 May 29:1-8.
Cantarini L, Vitale A, Brizi MG, et al; Diagnosis and classification of relapsing polychondritis. J Autoimmun. 2014 Feb-Mar48-49:53-9. doi: 10.1016/j.jaut.2014.01.026. Epub 2014 Jan 24.