|Classification and external resources|
|Patient UK||Relapsing polychondritis|
Relapsing polychondritis (also known as atrophic polychondritis, and systemic chondromalacia) is a multi-systemic condition characterized by inflammation and deterioration of cartilage. The often painful disease can cause deformity and be life-threatening when respiratory tract, heart valves or blood vessels are affected. The disease is not well known, is not well understood, and is often undiagnosed.
It is also known as chronic atrophic polychondritis, Meyenburg-Altherr-Uehlinger syndrome, von Meyenburg's disease, generalized chondromalacia, and systemic chondromalacia.
Signs and symptoms
Though any cartilage in the body may be affected, in many cases the disease affects several areas while sparing others completely. This disease is very variable in its clinical manifestations, and often results in diagnostic dillemma's and leads to a delay in diagnosis for several months, years or decades. Joint symptoms are often one of the first signes of the disease and chondritis is absent initially in nearly half the cases. First the chondritis part of RP will be described, followed by other clinical manifestations of this disease.
Chondritis that is relapsing is very charecteristic to this disease and is required for the diagnosis of RP. These recurrent inflammations of cartilage structures may over the course of the disease result in local degeneration and atrophy. The clinical manifestations of chondritis at various parts of the human body will be described first.
Inflammation of the cartilage of the ear is a specific symptom of this disease and affects most people, once local disease or infection has been ruled out. Statistics show that it is present in 20% of persons with RP at presentation and in 90% at some point during the course of the disease. Both ears are often affected and fluctuates during different flares, but one ear might also be affected. The entire pinna is swollen, red, or less often purplish, warm and painful to even the slightest touch. It is very characteristic of the disease that the ear lobe, which contains no cartilage, is in most cases not affected. The auricular chondritis lasts a few days or more, rarely a few weeks, and then resolves spontaneously and reoccurs at various intervals. There needs to be more research in these time intervals, since 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 and would be relevant to doctors for identifying this disease faster and make the diagnostic phase shorter. Because of the degeneration and atrophy the cartilage can collapse after several flares and result in a cauliflower ear deformity. The pinna may be either floppy or hardened by calcifications or ossification of the connective scar tissue that replaces the cartilage, and 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, wich is painless but irreversible.
Larynx and tracheobronchial tree
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-treatening also in the ealiest phases at is causes one-third of all deaths among persons with RP. Laryngeal chondritis is manifexted 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 amon 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 manifests itself as costochondritis and the symptoms include chest wall pain or, less often, as swelling of the involved cartilage. Statistically the involvement of the ribs is seen in 35% of persons with RP but is rarely inaugural.
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.
- Ears: About 20-30% of people with relapsing polychondritis have inflammation of the cartilage in the ears with sparing of the ear lobe, often described as "hot red ears", at the time of diagnosis. This can be the inner ear canal or the outer ear 
- Brain fog, sinusitis, headaches, dizziness and exhaustion is often reported by Relapsing Polychondritis persons.
- Eyes: About 20% of people have eye involvement at diagnosis and eventually about 65% will develop episcleritis or scleritis, inflammation of the sclera of the eye.
- Respiratory Tract: About 10-15% of people have inflammation of the nasal cartilage at diagnosis and about 50-70% will subsequently develop it. More seriously, the cartilage of the larynx and trachea may become inflamed, leading to shortness of breath, wheezing, cough and sometimes a sensation of choking. In later stages, this can lead to blockage of the airways.
- Musculoskeletal System:Joint pains, without evidence of active inflammation, is common. The pain often involves many different joints.
- 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 aortitis, 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 human 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 not 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.
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. The McAdam criteria are used to establish the diagnosis; diagnosis requires at least 3 of the following criteria: (1) red, swollen ear, sparing the ear lobe, during acute phase, deformed ear after acute inflammation; (2) red, swollen, and stiff joints; (3) inflammation and/or deformity of cartilage of the nose, often resulting in saddle deformity; (4) inflammation of the eye; (5) inflammation and/or deformity of the cartilage supporting the upper airway (trachea); (6) damage to the cartilage of the cochlea and/or vestible of the inner ear, resulting in hearing loss.
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.
A differential diagnosis should be taken into account with the following main RP manifestations.
|Manifestation of RP||Differential diagnosis|
|Auricular chondritis||Infectious perichondritis, Trauma, Insect bites, Ear erysipelas, Cystic chondromalacia, Overexposure to extreme cold temperatures or to sunlight, Auricular frostbite, Congenital syphilis.|
|Airway/kidney involvement||Granulomatosis with polyangiitis, bronchial asthma.|
|Nose cartilage involvement/saddle nose||Leishmaniasis, congenital syphilis, leprosy aspergillosis, paracoccidioidomycosis, cocain inhalation, systemic lupus erythematosus.|
|Subglottic stenosis||Prior endotracheal intubation, amyloidosis, sarcoidosis.|
|Vascular involvement||Takayasu's arteritis, polyarteritis nodosa, Behçet's disease, anti-phospholipid 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.
There is anecdotal evidence to suggest that a low fat, whole foods plant based diet may be helpful in treating the disease, however more research is needed.
Many individuals may have mild symptoms, which recur infrequently, while others may have persistent problems that become debilitating or life-threatening.
Relapsing polychondritis(RP) 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.
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