Rare Immunology News

Disease Profile

Tietze syndrome

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

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ICD-10

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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)

Tietze's syndrome; Chondropathia tuberosa; Costochondral junction syndrome

Categories

Musculoskeletal Diseases

Summary

Tietze syndrome is an inflammatory condition characterized by chest pain and swelling of the cartilage around the ribs. Specifically, people with Tietze syndrome have swelling of the cartilage that joins the upper ribs to the breastbone. This is called the costochondral junction. Signs and symptoms of this condition usually develop in people who are under the age of 40. Symptoms include mild to severe chest pain that may extend into the arms and shoulders. The chest, shoulders, and arms may also have redness and warmth.[1] In some cases, Tietze syndrome may resolve on its own without treatment, while other people experience patterns of pain followed by some relief of pain. Management for pain includes options such as minimizing physical activity, applying heat or ice as directed by your doctor, and taking pain medications and/or nonsteroidal anti-inflammatory drugs. Your doctor may also recommend seeing a chiropractor.[2]

Of note, this syndrome is different from Tietz syndrome, which is characterized by profound hearing loss from birth, fair skin, and light-colored hair.[3]

Symptoms

The signs and symptoms of Tietze syndrome usually develop before age 40. The most common symptom is mild to severe chest pain that may extend into the arms and shoulders. The onset of pain can be sudden or gradual and may worsen with coughing, sneezing, exercise, or quick movements such as opening or closing doors.[1]

Tietze syndrome is characterized by swelling of the cartilage of the ribs, specifically one of the three ribs that are closest to the head. Most cases of Tietze syndrome have symptoms of pain on one side of the body only (unilateral) and affect only one rib. The affected joint is typically tender and swollen. While the pain associated with Tietze syndrome usually subsides after several weeks or months, the swelling may persist. Some people affected by Tietze syndrome have patterns of relapse and remission, meaning they experience periods of pain and periods when the pain subsides.[2]

Cause

The exact underlying cause of Tietze syndrome is currently unknown. Some researchers have speculated that small injuries to the chest wall may contribute to the development of the condition. These small are known as microtraumas and are too small to cause damage that is noticeable from the outside, but they may cause damage or swelling to the ribs. These microtraumas could be caused by a sudden event such as a car accident or surgery or due to chronic small traumas such as those that might be caused by frequent coughing or vomiting.[1] 

Diagnosis

Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction). First, however, other conditions with similar signs and symptoms must be ruled out. A thorough physical exam and various tests may be necessary to exclude other conditions. These tests may include an electrocardiogram to rule out any heart problems, as well as X-rays and CT scans. Magnetic resonance imaging (MRI) can show thickening and enlargement of the affected cartilage.[2] 

Treatment

In some individuals, the pain associated with Tietze syndrome resolves on its own without any treatment. Management options for others may include avoidance of strenuous activity, applying heat or ice as directed by your doctor, taking pain medications, and/or nonsteroidal anti-inflammatory drugs. Some people benefit from corticosteroid or lidocaine injections if the pain does not respond to any other treatment.[1][2]

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

    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

    • 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

      • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
      • 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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Tietze syndrome. Click on the link to view a sample search on this topic.

        References

        1. Tietze syndrome. NORD. April 16, 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/637/viewAbstract. Accessed 9/23/2013.
        2. Gijsbers E, Knaap SF. Clinical presentation and chiropractic treatment of Tietze syndrome: A 34-year-old female with left-sided chest pain. J Chiropr Med. March 2011; 10(1):60-63. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110396/. Accessed 12/31/2014.
        3. Tietz syndrome. MedlinePlus Genetics. December 2015; https://ghr.nlm.nih.gov/condition/tietz-syndrome.

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