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Disease Profile

Relapsing polychondritis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

M94.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Chronic atrophic polychondritis; Recurrent polychondritis; Polychondropathia

Categories

Immune System Diseases; Kidney and Urinary Diseases

Summary

Relapsing polychondritis (RP) is characterized by recurrent swelling and inflammation of cartilage and other tissues throughout the body. 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. Symptoms of RP include swelling of the cartilage of the ear, nose, and joints. Other parts of the body that may be involved are the airways (trachea), costal (rib) cartilage, eyes, heart, vascular (veins) system, skin, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown. There are thought to be genetic and other unknown factors involved. RP often occurs along with autoimmune conditions. Diagnosis is based on the symptoms and clinical examination. Other more common conditions may need to be excluded before RP can be diagnosed. The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage.[1][2][3][4][5]

Symptoms

The following list includes the most common signs and symptoms in people with relapsing polychondritis (RP). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition

The features of the condition and the severity of symptoms vary significantly from person to person, but may include:[1][4][5]

  • Pain and swelling of the ear
  • Damage to the outer part of the ear
  • Swelling of the inner ear
  • Dizziness, hearing loss, and/or nausea
  • Joint pain
  • Swelling of the voice box (larynx)
  • Narrowing and blockage of the trachea (tracheal stenosis)
  • Coughing, wheezing, or hoarseness
  • Swelling of the outer parts of the eye (episcleritis, uveitis and/or scleritis).
  • Nasal cartilage inflammation and damage

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.[4] Symptoms usually begin in adulthood between the ages of 20 and 60, but RP has been diagnosed in children as well. 

In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological diseases (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. The most serious symptoms involve the airways and heart.

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Arthritis
Joint inflammation
0001369
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Chondritis
Cartilage inflammation
0100662
Chondritis of pinna
0200047
Large vessel vasculitis
0005310
30%-79% of people have these symptoms
Abnormal aortic valve morphology
0001646
Atelectasis
Partial or complete collapse of part or entire lung
0100750
Cough
Coughing
0012735
Dyspnea
Trouble breathing
0002094
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Pericarditis
Swelling or irritation of membrane around heart
0001701
Vertigo
Dizzy spell
0002321
5%-29% of people have these symptoms
Abnormal endocardium morphology
0004306
Abnormal pattern of respiration
Abnormal respiratory patterns
Unusual breathing patterns

[ more ]

0002793
Alopecia
Hair loss
0001596
Anteriorly placed anus
0001545
Arthralgia
Joint pain
0002829
Biparietal narrowing
0004422
Conjunctivitis
Pink eye
0000509
Cranial nerve paralysis
0006824
Episcleritis
Inflammation of the thin layer on top of the white part of eye
0100534
Erythema
0010783
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Glomerulopathy
0100820
Hematuria
Blood in urine
0000790
Hepatitis
Liver inflammation
0012115
Keratitis
Corneal inflammation
0000491
Laryngomalacia
Softening of voice box tissue
0001601
Macule
Flat, discolored area of skin
0012733
Myocarditis
Inflammation of heart muscle
0012819
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Purpura
Red or purple spots on the skin
0000979
Recurrent aphthous stomatitis
Recurrent canker sores
0011107
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Scleritis
0100532
Sensorineural hearing impairment
0000407
Thrombophlebitis
0004418
Uveitis
0000554
Vascular dilatation
Wider than typical opening or gap
0002617

Cause

The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect 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.[2] In general, autoimmune conditions are complex traits that are associated with the effects of multiple genes in combination with lifestyle and environmental factors.

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, HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk. Thus, many people with HLA-DR4 will never develop RP.[3]

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:[6]

  • 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.[6]

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.[7][8]

People who develop severe heart or respiratory complications may require surgery.[9]

More detailed information about the management of RP is available on Medscape Reference's Web site and can be viewed by clicking here.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • The Merck Manual provides information on this condition for patients and caregivers.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Merck Manual for health care professionals provides information on Relapsing polychondritis.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Relapsing polychondritis. Click on the link to view a sample search on this topic.

          References

          1. Michet CJ. Clinical manifestations of relapsing polychondritis. UpToDate. Updated Feb, 2020; https://www.uptodate.com/contents/clinical-manifestations-of-relapsing-polychondritis.
          2. Relapsing Polychondritis. NORD. Updated 2018; https://rarediseases.org/rare-diseases/relapsing-polychondritis/.
          3. Michet, CJ. Etiology and pathogenesis of relapsing polychondritis. UpToDate. Updated July 30, 2020; https://www.uptodate.com/contents/etiology-and-pathogenesis-of-relapsing-polychondritis.
          4. Vitale A, Sota J, igante D, Lopalco G, Molinaro F, Messina M, Iannone F, Cantarini L. Relapsing Polychondritis: an Update on Pathogenesis, Clinical Features, Diagnostic Tools, and Therapeutic Perspectives.. Curr Rheumatol Rep.. Jan 2016; 18(1):3. https://pubmed.ncbi.nlm.nih.gov/26711694/.
          5. de Montmollin N, Dusser D, Lorut C, Dion J, Costedoat-Chalumeau N, Mouthon L, Chassagnon G, Revel MP, Puéchal X. Tracheobronchial involvement of relapsing polychondritis. Autoimmun Rev. Sep 2019; 18(9):102353. https://pubmed.ncbi.nlm.nih.gov/31323366/.
          6. Clement J Michet, MD. Diagnostic evaluation of relapsing polychondritis. UpToDate. January 2015; Accessed 4/21/2015.
          7. Relapsing polychondritis. DermNet NZ. December 2013; https://www.dermnetnz.org/dermal-infiltrative/relapsing-polychondritis.html.
          8. Relapsing polychondritis. Orphanet. July 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=728.
          9. Nicholas Compton, MD. Polychondritis. Medscape Reference. March 2015; https://emedicine.medscape.com/article/331475-overview.

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