Rare Infectious Disease News

Disease Profile

Mycobacterium Avium Complex infections

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)

Mycobacterium Avium-Intracellulare; MAI; Mycobacterium Avium;

Categories

Bacterial infections

Summary

Mycobacterium avium complex (MAC) refers to infections caused by two types of bacteria: Mycobacterium avium and Mycobacterium intracellulare.[1][2] MAC bacteria do not make most people sick. However, people with immune systems that do not work well (from HIV/AIDS or certain cancers for example) or people with lung disease (such as chronic obstructive pulmonary disease (COPD) or cystic fibrosis) are at the greatest risk for getting sick from MAC Infections. Elderly women are also at higher risk to get sick from MAC infections.[2][3]

There are 3 types of MAC infections.

  • Pulmonary MAC infections Affect the lungs and are the most common type. These mainly affect elderly women and people who already have lung disease.[2][3]
  • Disseminated MAC infections Have spread throughout the body. This type is usually seen in people with advanced AIDS.[1]
  • MAC-associated lymphadenitis Causes swelling of the lymph nodes (especially in the neck) and is the most common in young children who have normal immune systems.[3][4]

While the symptoms are different for each type of infection, general symptoms include fever, night sweats, weight loss, and fatigue. MAC bacteria are found in water, soil, and dust. They infect people when the bacteria are inhaled or swallowed.[1][5] MAC bacteria are not usually spread from person to person. MAC infections are diagnosed by a combination of imaging scans and identifying the bacteria in cultures of cells from the infected area. Treatment for MAC infection depends on the type and may include antibiotics, antiviral medications, or surgery.[1][2]

Symptoms

Mycobacterium avium complex infections can cause various symptoms depending on the site of the infection. For example, pulmonary MAC mainly affects the lungs; disseminated MAC affects the whole body; and MAC lymphadenitis causes swollen lymph nodes.[1][2][4]

The symptoms of pulmonary MAC infection start slowly, get worse over time and may last for weeks to months. People with pulmonary MAC infections may experience cough, weight loss, fever, fatigue, and night sweats.[2]

Symptoms of disseminated MAC infection include: [1][4]

  • Fever
  • Sweating
  • Weight loss
  • Fatigue
  • Diarrhea
  • Shortness of breath
  • Abdominal pain
  • Anemia

People with disseminated MAC infection may also have symptoms associated with an infection of the breast tissue (mastitis); an infection of the skeletal muscle (pyomyositis), abscesses of the skin or brain, and gastrointestinal problems.[1][3] MAC lymphadenitis generally affects children with normal immune systems. Symptoms of MAC lymphadenitis usually only include swollen lymph nodes mainly on one side of the neck.[1][3]

Cause

Mycobacterium avium complex (MAC) infections are caused by two types of bacteria: Mycobacterium avium and Mycobacterium intracellulare.[1] These bacteria are found in many places including water (fresh or salt), household dust, and soil. MAC bacteria get into the body when the bacteria are inhaled into the lungs or swallowed. Most people have MAC bacteria in their bodies and never get sick. MAC bacteria primarily cause illness in people who have poorly working immune systems or lung disease. Touching the same objects or having a close relationship with people who are sick from a MAC infection does not seem to increase the chance of getting sick. MAC infections are not thought to be contagious from one person to another.[3][4]

Diagnosis

Diagnosis of a pulmonary mycobacterium avium complex (MAC) infection is based on a combination of physical exam findings, laboratory test results, and lung x-rays or CT scan results. The laboratory tests include cultures of mucus spit up from the lungs (sputum) and special staining (acid-fast bacillus test). A laboratory culture involves placing cells from a sputum sample in an environment that encourages the bacteria to grow. Results identifying the bacteria may take several days or longer. Because the symptoms of MAC infections are similar to those of other types of infections, other types of infections and diseases must also be ruled out.[3][4]

Diagnosis of disseminated MAC infection is suspected based on symptoms and is confirmed in cultures of blood and often lymph node cells. Cultures of cells from urine, stool, liver or bone marrow may also be helpful. CT scans may be used to try to determine the different sites of infection in the body. If pulmonary or disseminated MAC infection is suspected, an HIV test may be done, as well as other tests, to rule out other associated medical conditions.[1][2][3]

A diagnosis of MAC lymphadenitis is confirmed by finding the bacteria in the culture of lymph node cells. These cells are collected by a biopsy of a swollen lymph node.[2][3]

Treatment

Mycobacterium avium complex (MAC) infection is classified into several different types including:[2][3]

  • Pulmonary MAC infection, which affects the lungs
  • Disseminated MAC infection, which affects many different parts of the body
  • MAC lymphadenitis, which causes swollen lymph nodes

Treatment options for MAC infections vary by type of infection and by the presence of other medical conditions such as AIDS, cystic fibrosis, COPD, or cancer.[3]

Pulmonary MAC infections and disseminated MAC infections are usually treated with a combination of antibiotic medications. There are many types of antibiotics approved for treating MAC infections A combination of medicines is used because some of the disease-causing bacteria can be resistant to certain types of antibiotics. Using more than one antibiotic reduces the chance for the MAC bacteria to come back after treatment is over.[1][3]

For people who have both HIV/AIDS and a MAC infection, treatment usually involves a combination of different antibiotics for the MAC infection and antiretroviral therapy to treat the HIV infection.[1][4]

In special circumstances, there is some evidence to suggest that surgery to remove a single spot of infection in one lung can be helpful in people who have had a poor response to drug therapy. Surgery is usually only done when the infection is found in only one lung and the surgery won't cause any long-term harm.[3][4]

Treatment of MAC lymphadenitis usually involves surgical removal of affected lymph nodes. Antibiotics may also be prescribed depending on the severity of infection and the response to surgery.[3][4]

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Liposomal amikacin(Brand name: Arikayce) Manufactured by Insmed Incorporated
    FDA-approved indication: September 2018, liposomal amikacin (Arikayce) was approved for the treatment of Mycobacterium avium complex (MAC) lung disease as part of a combination antibacterial drug regimen in patients who do not achieve negative sputum cultures after a minimum of 6 consecutive months of a multidrug background regimen therapy.
    National Library of Medicine Drug Information Portal
    Medline Plus Health Information

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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Mycobacterium Avium Complex infections. Click on the link to view a sample search on this topic.
      • The AIDS Education and Training Center (AETC) offers information on Mycobacterium Avium Complex infections. Click on the link to view this information page.

        References

        1. Currier JS. Mycobacterium avium complex (MAC) infections in HIV-infected patients. UpToDate. 2017; https://www.uptodate.com/contents/mycobacterium-avium-complex-mac-infections-in-hiv-infected-patients.
        2. Griffith DE. Overview of nontuberculous mycobacterial infections in HIV-negative patients. UpToDate. 2017; https://www.uptodate.com/contents/overview-of-nontuberculous-mycobacterial-infections-in-hiv-negative-patients.
        3. Daley CL. Mycobacterium avium Complex Disease. Microbiol Spectr. April, 2017; 5(2):https://www.ncbi.nlm.nih.gov/pubmed/28429679.
        4. Koirala J. Mycobacterium Avium-Intracellulare. Medscape Reference. 2018; https://emedicine.medscape.com/article/222664-overview.
        5. Disseminated mycobacterium avium complex disease. US Department of Health and Human Services. 2017; https://aidsinfo.nih.gov/guidelines/html/4/adult-and-adolescent-opportunistic-infection/326/mac.
        6. Diel R, Lipman M, Hoefsloot W. High mortality in patients with Mycobacterium avium complex lung disease: a systematic review. BMC Infect Dis. 2018; 18(206):1-10. https://bmcinfectdis.biomedcentral.com/track/pdf/10.1186/s12879-018-3113-x.

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