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Disease Profile

Catamenial pneumothorax

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.

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US Estimated

Europe Estimated

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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Categories

Lung Diseases

Summary

Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax. Treatment is with hormones and surgery.[1][2][3]

Symptoms

In the vast majority (87.5%-100%) of catamenial pneumothorax the right side is involved, but there are cases in which both sides or only the left side is involved. Catamential pneumothorax is associated with thoracic and pelvic endometriosis in many cases.

The typical clinical manifestation of the condition involves spontaneous pneumothorax before or during periods (menses), usually presented with:[1][2][4]

• Pain
• Dyspnea
• Cough
• Shoulder pain
• Pain in the chest

In cases with endometriosis it may present as:[1][2][4]

• Pelvic endometriosis Generally, the symptoms include pain during periods and during sex and infertility.
• Thoracic endometriosis Catamenial pneumothorax is the most common symptom of thoracic endometriosis syndrome (72-73% of the cases). Other symptoms of thoracic endometriosis syndrome include blood collecting in the space between the chest wall and the lung (catamenial hemothorax), coughing up blood (catamenial hemoptysis), air and blood in the chest space (catamenial hemopneumothorax) and endometriosis lung nodules.

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
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Decreased fertility
Abnormal fertility
0000144
Dysmenorrhea
Painful menstruation
0100607
Endometriosis
0030127
Multifactorial inheritance
0001426
Do you have updated information on this disease? We want to hear from you.

Cause

The exact cause is not known. However, spontaneous collapse of the lung (pneumothorax) occurs in 72% to 73% of cases of thoracic endometriosis. Thoracic endometriosis is a condition in which endometrial tissue is present in the chest (thoracic) cavity. It is more often seen in women who are about 34 years old. Thoracic endometriosis can be found in most cases of catamenial pneumothorax.[1]

Pneumothorax associated with endometriosis may also occur without being related with menstruation (non-catamenial pneumothorax) even in cases with no symptoms or without diagnosis of pelvic endometriosis.[1]

Diagnosis

The diagnosis should be suspected in women of reproductive age who have several episodes of spontaneous lung collapse (pneumothoraces) and have endometriosis. Medical thoracoscopy or video-assisted thoracoscopy may confirm the diagnosis.[1]

Treatment

Treatment of choice is with surgery, with video-assisted thoracoscopic surgery (VATS). Conventional thoracotomy may be occasionally necessary, particularly in repeat operations. It is very important to examine the large, thin tissue lining around the outside of the lungs and the inside of the chest cavity (pleura).[1] 

Hormonal treatment with surgery prevents the repeat of catamenial and/or endometriosis-related pneumothorax. Gonadotrophin-releasing hormone (GnRH) for 6 to 12 months after the surgery is also often recommended.[1]

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

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • 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.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Catamenial pneumothorax. Click on the link to view a sample search on this topic.

        References

        1. Aikaterini N & cols. Catamenial pneumothorax. J Thorac Dis. 2014 Oct; 6(Suppl 4):S448–S460. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203986. Accessed 10/13/2015.
        2. Catamenial pneumothorax. WebMD. May 28, 2015; https://www.webmd.com/lung/catamenial-pneumothorax. Accessed 10/13/2015.
        3. Azizad-Pinto P & Clarke D. Thoracic endometriosis syndrome: case report and review of the literature. Perm J. 2014 Summer; 18(3):61-5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116267/. Accessed 10/13/2015.
        4. Ishii H, Kushima H, Watanabe K &, Kadota J. Two cases of pulmonary lymphangioleiomyomatosis in postmenopausal women. Respir Investig. July 2014; 52(4):261-4. https://www.ncbi.nlm.nih.gov/pubmed/24998373. Accessed 10/13/2015.

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