Relapsing polychondritis

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Relapsing polychondritis
Classification and external resources
ICD-10 M94.1
ICD-9 733.99
DiseasesDB 10248
eMedicine med/2000 derm/375
Patient UK Relapsing polychondritis
MeSH D011081

Relapsing polychondritis (also known as "Atrophic polychondritis,"[1] and "Systemic chondromalacia"[1]) 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.

Epidemiology[edit]

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.[2]

Presentation[edit]

Though any cartilage in the body may be affected, in many cases the disease affects several areas while sparing others completely. Parts of the body where cartilage is found, and therefore potentially affected by polychondritis, include the ears, nose, throat, heart valves, joints and rib cage, sinus cavities among others. Several conditions may result from relapsing polychondritis, including tracheomalacia, softening of the cartilage that props open the trachea.

Signs and Symptoms[edit]

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.[2] 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.[2]
  • 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.[2]
  • 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.[2]
  • Musculoskeletal System:Joint pains, without evidence of active inflammation, is common. The pain often involves many different joints.[2]
  • 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.[2]
  • Hematologic:The disease is associated with myelodysplastic syndrome.[2]
  • 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%).[2]
  • Kidneys: Kidney disease occurs in about 6-10% of patients, including glomerulonephritis.[2]

Causes[edit]

Relapsing polychondritis is an auto-immune disease[3] 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.[2]

Reasons for disease onset are not known, but there is not evidence of a genetic predisposition to developing relapsing polychondritis.[2]

Diagnosis[edit]

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.

Labs[edit]

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[edit]

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[edit]

Imaging studies including MRI, ct scans, and X-rays may reveal inflammation and/or damaged cartilage facilitating diagnosis.

Treatment[edit]

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.[2]

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.

Prognosis[edit]

"Many individuals may have mild symptoms, which recur infrequently, while others may have persistent problems that become debilitating or life-threatening.[4]

See also[edit]

References[edit]

  1. ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ a b c d e f g h i j k l m Chopra R (May 2013). "Relapsing Polychondritis". Rheum Dis Clin N Am 39: 263–276. doi:10.1016/j.rdc.2013.03.002. PMID 23597963. 
  3. ^ "Relapsing Polychondritis: Autoimmune Disorders of Connective Tissue". Merck Manual Home Health Handbook. 
  4. ^ http://www.polychondritis.org/what-is-rp/

"Polychondritis" Medscape. Web. 13 August 2014. <http://emedicine.medscape.com/article/331475-overview#a0104>

External links[edit]