Ear inflammation with sparing of ear lobe in a person with relapsing polychondritis
|Classification and external resources|
|Patient UK||Relapsing polychondritis|
Relapsing polychondritis, also known as atrophic polychondritis, systemic chondromalacia) chronic atrophic polychondritis, Meyenburg-Altherr-Uehlinger syndrome, generalized chondromalacia, and systemic chondromalacia, is a multi-systemic condition characterized by inflammation and deterioration of cartilage. The often painful disease can cause joint deformity and be life-threatening if the respiratory tract, heart valves or blood vessels are affected. The exact mechanism is poorly understood, but it is thought to be related to an immune-mediated attack on particular proteins that are abundant in cartilage.
The diagnosis is reached on the basis of the symptoms and supported by investigations such as blood tests and sometimes other investigations. Treatment may involve symptomatic treatment with painkillers or anti-inflammatories, and more severe cases may require suppression of the immune system.
- 1 Signs and symptoms
- 2 Causes
- 3 Diagnosis
- 4 Treatment
- 5 Prognosis
- 6 Epidemiology
- 7 Research
- 8 References
- 9 External links
Signs and symptoms
Though any cartilage in the body may be affected in persons with relapsing polychondritis, in many cases the disease affects several areas while sparing others. The disease may be variable in its signs and symptoms, resulting in a difficult diagnosis which may leads to delayed recognition for several months, years or decades. Joint symptoms are often one of the first signs of the disease with cartilage inflammation initially absent in nearly half the cases.
Cartilage inflammation (technically known as chondritis) that is relapsing is very characteristic of the disease and is required for the diagnosis of RP. These recurrent episodes of inflammation over the course of the disease may result in breakdown and loss of cartilage. The signs and symptoms of cartilage inflammation in various parts of the body will be described first.
Inflammation of the cartilage of the ear is a specific symptom of the disease and affects most people. It is present in about 20% of persons with RP at presentation and in 90% at some point. Both ears are often affected and with the one involve sometimes changing during different flares. It is characteristic for the entire outer part of the ear except the earlobe to be swollen, red, or less often purplish, warm and painful to light touch.
The inflammation of the cartilage of the ear usually lasts a few days or more, rarely a few weeks, and then resolves spontaneously and recurs at various intervals. Because of the loss of cartilage, after several flares cauliflower ear deformity may result. The outer part of the ear may be either floppy or hardened by calcifications of the scar tissue that replaces the cartilage. These cauliflower ear deformities occurs in about 10% of persons with RP.
The inflammation of the cartilage of the nose involves the bridge of the nose and is often less marked as the ears. Statistics show that this clinical manifestation is present in 15% of persons with RP and occurs at some point in 65% of persons with RP. Nasal obstruction is not a common feature. Atrophy may eventually develop secondarily during the disease, this appears gradual and is not easily noticed. This can result in collapse of the nasal septum with saddle-nose deformity, which is painless but irreversible.
Inflammation occurs in the laryngeal, tracheal and bronchial cartilages. Both of these sites are involved in 10% of persons with RP at presentation and 50% over the course of this autoimmune disease, and is more common among females. The involvement of the laryngotracheobronchial part may be severe and life-threatening also in the earliest phases at is causes one-third of all deaths among persons with RP. Laryngeal chondritis is manifested as pain above the thyroid gland and, more importantly, as dysphonia with a hoarse voice or transient aphonia. Because this disease is relapsing, recurrent laryngeal inflammation may result in laryngomalacia or permanent laryngeal stenosis with inspiratory dyspnea that may require emergency tracheotomy as a temporary or permanent measure.
Tracheobronchial involvement may or may not be accompanied with laryngeal chondritis and is potentially the most severe manifestation of RP because it truly represents the main cause of death among persons with RP.
The symptoms consist of dyspnea, wheezing, a nonproductive cough and recurrent potentially severe lower respiratory tract infections. Obstructive respiratory failure may develop as the result of either permanent tracheal or bronchial narrowing or chondromalacia with expiratory collapse of the tracheobronchial tree. Endoscopy, intubation, or tracheotomy has been shown to hasten death.
Involvement of the rib cartilages results in costochondritis. Symptoms include chest wall pain or, less often, swelling of the involved cartilage. The involvement of the ribs is seen in 35% of persons with RP but is rarely the first symptom.
Relapsing polychondritis may affect many different organ systems of the body. At first, some people with the disease may have only nonspecific symptoms such as fever, weight loss, and malaise. The disease commonly affects the following parts of the body.
The joints are secondly most common affected manifestation of this disease, after chondritis. At presentation, around 33% of people have joint symptoms that involve Polyarthralgia and /or polyarthritis or oligoarthritis that affects various parts of the body and often appears to be episodic, asymmetric, migratory and non-deforming. The most common sites of involvement are the metacarpophalangeal joints, proximal interphalangeal joints and knees. After which is followed by the ankles, wrists, metatarsophalangeal joints and the elbows. Any involvement of the axial skeleton is considered to be very rare. Tests for rheumatoid factor are negative in affected persons with RP, unless there is a co-morbidity with RA.
Less often it has been reported that persons may experience arthralgia, monoarthritis, or chronic polyarthritis that mimicks rheumatoid arthritis, leading to a difficult diagnosis for this disease. The appearance of erosions and destruction, however, is exceedingly rare and this may point instead to rheumatoid arthritis as a cause.
The most common form of ocular involvement are usually mild and often consist of unilateral of bilateral episcleritis and/or scleritis, that is often anterior and could be lingering or relapsing. Scleritis that is necrotizing is found to be exceedingly rare. Less often, conjunctivitis occurs. There are also other ocular manifestations that occur in persons with RP, these include keratoconjunctivitis sicca, peripheral keratitis (rarely with ulcerations), anterior uveitis, retinal vasculitis, proptosis, lid edema, keratoconus, retinopathy, iridocyclitis and ischemic optic neuritis that can lead to blindness. Cataract also is reported in relation to either the disease or to glucocorticoid exposure.
- Skin and mucous membranes:20-30% of people with relapsing polychondritis have skin involvement, including aphthous ulcers, genital ulcers, and a number of non-specific skin rashes including erythema nodosum, livedo reticularis, hives, and erythema multiforme.
- Hematologic: The disease is associated with myelodysplastic syndrome.
- Cardiovascular system: Relapsing polychrondritis may cause inflammation of the aorta. It can also cause leaky heart valves (aortic valve regurgitation in 4-10%, mitral valve regurgitation in 2%).
- Kidneys: Kidney disease occurs in about 6-10% of persons, including glomerulonephritis.
Relapsing polychondritis is an auto-immune disease in which the body's immune system begins to attack and destroy the cartilage tissues in the body. It has been postulated that both cell-mediated immunity and humoral immunity are responsible.
Reasons for disease onset are not known, but there is no evidence of a genetic predisposition to developing relapsing polychondritis. However, there are cases where multiple members of the same family have been diagnosed with this illness. Studies indicate that some genetic contribution to susceptibility is likely.[medical citation needed]
There is no specific test for relapsing polychondritis. Some people may exhibit abnormal lab results while others may have completely normal labs even during active flares.
There are several clinical criteria used to diagnose this disease. McAdam et al. introduced the clinical criteria for RP in 1976. These clinical criteria have later been expanded by Damiani et al. in 1979 and finally Michet et al. modified them in 1986. See the following table for these diagnostic clinical criteria and the number of conditions required for an official diagnosis.
|McAdam et al.||
||3 out of 6 criteria|
|Damiani et al.||
|Michet et al.||
Patients presenting with acute episodes often have high levels of inflammatory markers such as erythrocyte sedimentation rate or C-reactive protein, ESR or CRP. Patients often have cartilage-specific antibodies present during acute relapsing polychondritis episodes. Antinuclear antibody reflexive panel, rheumatoid factor, and antiphospholipid antibodies are tests that may assist in the evaluation and diagnosis of autoimmune connective-tissue diseases.
Biopsy of the cartilage tissue (for example, ear) may show tissue inflammation and destruction, and may help with the diagnosis. The Biopsy of cartilage in patients with relapsing polychondritis may demonstrate chondrolysis, chondritis, and perichondritis.
Imaging studies including MRI, CT scans, and X-rays may reveal inflammation and/or damaged cartilage facilitating diagnosis.
There are several other overlapping diseases associated with RP, that should also be taken into account. About one third of people with RP might be associated with other autoimmune diseases, vasculitides and hematologic disorders. The following table displays the main diseases in association with RP.
|Class of disease||Specific type of disease|
|Vasculitides||Granulomatosis with polyangiitis, Chürg-Strauss syndrome, Polyarteritis nodosa, Behçet's disease, Takayasu's arteritis, Leukocytoclastic vasculitis, Temporal arteritis.|
|Autoimmune diseases||Systemic lupus erythematosus, Systemic scleroderma, Mixed connective tissue disease, Autoimmune thyroiditis, Sjögren's syndrome, dermatomyositis, Antiphospholipid syndrome, Autoimmune hemolytic anemia.|
|Other Rheumatologic diseases||rheumatoid arthritis, spondyloarthropathy, reactive arthritis, polymyalgia rheumatica.|
|Hematologic disorders||Myelodysplasia, myeloproliferative neoplasm.|
|Dermatologic diseases||Psoriasis, atopic dermatitis, lichen ruber planus, vitiligo.|
|Autoinflammatory diseases||Familial Mediterranean fever.|
|Others||Primary biliary cirrhosis, ulcerative colitis, Crohn's disease, diabetes mellitus.|
A differential diagnosis should be taken into account with the following main RP manifestations.
|Manifestation of RP||Differential diagnosis|
|Auricular chondritis||Infectious perichondritis, injury, insect bites and stings, ear erysipelas, cystic chondromalacia, overexposure to extreme cold temperatures or to sunlight, frostbite of the ear, congenital syphilis.|
|Airway/kidney involvement||Granulomatosis with polyangiitis, bronchial asthma.|
|Nose cartilage involvement/saddle nose||Leishmaniasis, congenital syphilis, leprosy aspergillosis, paracoccidioidomycosis, Cocaine inhalation, systemic lupus erythematosus.|
|Subglottic stenosis||Prior endotracheal intubation, amyloidosis, sarcoidosis.|
|Vascular involvement||Takayasu's arteritis, polyarteritis nodosa, Behçet's disease, antiphospholipid syndrome.|
|Vestibular disease||Posterior circulation infarct, vestibulitis, benign paroxysmal vertigo, Ménière's disease.|
There are no prospective randomized controlled trials studying therapies for relapsing polychondritis. Evidence for efficacy of treatments is based on case reports and series of small groups of patients.
For mild cases limited to joint pain or arthritis, oral nonsteroidal antiinflammatory drugs (NSAIDs) may be used. Other treatments typically involve medications to suppress the immune system. Corticosteroids are frequently used for more serious disease. Steroid-sparing medications such as azathioprine or methotrexate may be used to minimize steroid doses and limit the side effects of steroids. For severe disease cyclophosphamide is often given in addition to high dose intravenous steroids.
Many individuals have mild symptoms, which recur infrequently, while others may have persistent problems that become debilitating or life-threatening.
Relapsing polychondritis occurs as often in men as in women. In a Mayo Clinic series, the annual incidence was about 3.5 cases per million. The highest incidence is between the ages of 40 and 50 years, but it may occur at any age.
There has been little research on neurological problems related to RP. If these cartilage structures get inflamed, they could press against nerves and cause a variety of problems that is seen in RP like peripheral neuropathy or cervicogenic headache and many more.
There is little research examining the time intervals of the auricular chondritis. A survey held in RP support groups suggested that some people with RP experience short flares of minutes, and long flares of months. This is not described by scientific data yet (only days and weeks) and would be relevant to doctors for identifying this disease faster and make the diagnostic phase shorter.
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