Relapsing polychondritis

Relapsing Polychondritis: A Disorder of Cartilage Inflammation

Ear inflammation with sparing of ear lobe in a person with relapsing polychondritis

Relapsing Polychondritis is a rare autoimmune disorder characterized by recurrent episodes of inflammation affecting cartilage and various connective tissues throughout the body. This condition's name, "relapsing," underscores its chronic and episodic nature. In this comprehensive article, we will explore the definition, clinical features, causes, diagnosis, treatment, and implications of Relapsing Polychondritis.

Understanding Relapsing Polychondritis

Relapsing Polychondritis is an autoimmune disorder that primarily targets cartilage, which is found in the ears, nose, trachea, and joints. However, it can also affect other connective tissues, including the eyes, heart valves, and blood vessels.

Other Names

Chronic atrophic polychondritis; Recurrent polychondritis; Polychondropathia

What is cartilage?

Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body.

Clinical features

• Ear involvement is the most common feature, but a variety of other areas of the body may be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system.
• The signs and symptoms vary from person to person depending on which parts of the body are affected.

Autoimmune basis suspected

The exact underlying cause of RP is unknown; however, scientists suspect that it is an autoimmune condition. The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage.

Signs and symptoms

• Ear: The ears are the most commonly affected body part and present with sudden onset of pain, swelling, and tenderness of the cartilage of one or both ears. The pinna usually loses firmness and becomes floppy; hearing impairment may also occur. Inflammation of the inner ear may also cause nausea, vomiting, dizziness, and/or ataxia.
• Joint: The second most common finding is joint pain with or without arthritis.
• Eye: Affected people may experience episcleritis, uveitis and/or scleritis. Scleritis may lead to a bluish or dark discoloration of the sclera (white of the eye) and may even be associated with vision loss in severe cases. Proptosis (bulging out of one or both eye balls) may also be a symptom of RP.
• Nose: Nasal cartilage inflammation may lead to stuffiness, crusting, rhinorrhea, epistaxis (nose bleeds), compromised sense of smell and/or saddle nose deformity (a condition where the nose is weakened and thus "saddled" in the middle).
• Airways: Inflammation may affect the larynx, trachea (windpipe), and bronchi (tubes that branch off the trachea and carry air to the lungs). Airway involvement may lead to a cough, wheezing, hoarseness and recurrent infections. It can become life-threatening if not properly diagnosed and managed.

Other organs

Less commonly, RP may affect the heart, kidneys, nervous system, gastrointestinal tract, and/or vascular (veins) system. Nonspecific symptoms such as fever, weight loss, malaise, and fatigue may also be present.

Associated conditions

In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological disease (including Hodgkin's lymphoma and myelodysplastic syndromes); gastrointestinal disorders (including Crohn's disease and ulcerative colitis); endocrine diseases (including diabetes mellitus type 1 and thyroid disorders) and others.

• Episodes of RP may last a few days or weeks and typically resolve with or without treatment.
• However, it is generally progressive, and many people have persistent symptoms in between flares.
• This table lists symptoms that people with this disease may have.
• For most diseases, symptoms will vary from person to person.
• People with the same disease may not have all the symptoms listed.
• This information comes from a database called the Human Phenotype Ontology (HPO) .
• The HPO collects information on symptoms that have been described in medical resources.
• The HPO is updated regularly.
• Use the HPO ID to access more in-depth information about a symptom.

Cause

• The exact underlying cause of relapsing polychondritis (RP) is unknown.
• It is suspected that it is an autoimmune condition.
• It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues.
• There is also evidence to suggest that some people may be born with a genetic susceptibility to RP.
• Studies have found that people with RP are roughly twice as likely as those without this condition to carry a certain genetic allele called HLA-DR4.
• "HLA" stands for human leukocyte antigen, which is an important part of our immune system and plays a role in resistance and predisposition (risk) to disease. However, not all with HLA-DR4 will will develop RP.

Inheritance

• Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion.
• Most people with relapsing polychondritis do not have affected relatives.
• Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors.
• In general, having a first degree relative (for example a parent, child, or sibling) with an autoimmune condition may increase your personal risk for developing an autoimmune condition.
• Unfortunately, no specific risk estimates are available for relapsing polychondritis.

Diagnosis

• There are no tests available that are specific for relapsing polychondritis (RP). A diagnosis is, therefore, generally based on the presence of characteristic signs and symptoms. For example, people may be diagnosed as having RP if they have three or more of the following features:[9]
• Inflammation of the cartilage of both ears
• Seronegative (negative for rheumatoid factor) polyarthritis (arthritis that involves 5 or more joints simultaneously)
• Inflammation of the cartilage of the nose
• Eye inflammation (conjunctivitis, episcleritis, scleritis, and/or uveitis)
• Inflammation of the cartilage of the airway
• Vestibular dysfunction (i.e. vertigo, hearing loss, tinnitus)
• In some cases, a biopsy of affected tissue may be necessary to support the diagnosis.

Treatment

• The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage.
• The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses.
• Higher doses are generally given during flares, while lower doses can typically be prescribed during periods of remission.
• Other medications reported to control symptoms include dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine and infliximab.

Prognosis

• The long-term outlook (prognosis) for people with relapsing polychondritis (RP) varies from person to person.
• In general, RP is a chronic and progressive (worsening overtime) condition.
• Some form of disability is common in the later stages of RP; these may include visual impairment, hearing loss, vestibular dysfunction, and/or cardiopulmonary (heart and lung) disease.
• Severe cases of RP can be life-threatening.
• Respiratory complications (windpipe collapse and infections) are the most common cause of death followed by cardiovascular (heart and blood vessel) involvement.
• In recent years, improvements have been made in the outcomes of patients with RP.
• Survival rates have increased from 70% after 5 years, to 94% after 8 years and even 91% after 10 years in a recent study.

Related Diseases

• Related diseases are conditions that have similar signs and symptoms.
• A health care provider may consider these conditions in the table below when making a diagnosis.
• Please note that the table may not include all the possible conditions related to this disease.

Clinical Presentation

The clinical presentation of Relapsing Polychondritis varies from person to person but often includes:

Auricular Inflammation

Inflammation of the ears (auricular chondritis) is a hallmark feature, leading to pain, redness, and deformity of the ears.

Nasal Involvement

Inflammation of the nasal cartilage can cause a saddle-nose deformity and nasal congestion.

Airway Complications

Inflammation of the tracheal and bronchial cartilage can lead to airway complications, including breathing difficulties.

Ocular Involvement

Eye inflammation (scleritis, episcleritis) may occur, leading to redness, pain, and vision problems.

Joint and Skin Symptoms

Some individuals may experience joint pain and skin involvement, such as rashes.

Cardiac and Vascular Complications

In rare cases, Relapsing Polychondritis can affect the heart valves and blood vessels, leading to serious cardiac complications.

Causes and Pathogenesis

The exact cause of Relapsing Polychondritis is unknown, but it is believed to be an autoimmune disorder. It may involve an abnormal immune response targeting cartilage and connective tissues.

Diagnosis and Assessment

Diagnosing Relapsing Polychondritis involves a combination of clinical evaluation, imaging studies (e.g., CT scans), blood tests, and sometimes a biopsy of affected tissue.

Treatment and Management

Treatment aims to reduce inflammation and manage symptoms. Therapies may include corticosteroids, nonsteroidal anti-inflammatory drugs (NSAIDs), disease-modifying antirheumatic drugs (DMARDs), and biologics.

Prognosis and Implications

The course of Relapsing Polychondritis can be unpredictable. While some individuals experience mild and manageable symptoms, others may face severe complications. Early diagnosis and appropriate treatment are crucial to improving outcomes.

Research and Support

Ongoing research aims to better understand the underlying mechanisms of Relapsing Polychondritis and develop more effective treatments. Support groups and patient organizations provide resources and assistance to individuals living with this condition.

References

1. Trentham, D. E., & Le, C. H. (1998). "Relapsing Polychondritis." Annals of Internal Medicine, 129(2), 114-122.

2. Hazra, N., & Dregan, A. (2015). "Relapsing Polychondritis: A Population-Based Study of Incidence and Prevalence." The Journal of Rheumatology, 42(8), 1401-1405.

External Links

- Arthritis Foundation: Relapsing Polychondritis - Information and resources for patients and caregivers.

- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): Relapsing Polychondritis - In-depth overview of the condition, research, and treatment options.

Conclusion

Relapsing Polychondritis is a rare autoimmune disorder characterized by recurrent inflammation of cartilage and connective tissues. Its unpredictable nature and potential for serious complications emphasize the importance of early diagnosis and appropriate treatment. Ongoing research and patient support networks play a vital role in advancing our understanding of this complex condition and improving the quality of life for affected individuals.

For more information on related topics, please explore our Autoimmune Disorders and Connective Tissue Diseases articles.

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