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Disease Profile

Buerger disease

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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Adult

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ICD-10

I73.1

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)

Buerger's disease; Thromboangiitis obliterans; TAO;

Categories

Blood Diseases; Heart Diseases; Kidney and Urinary Diseases

Summary

Buerger disease is a disease in which small and medium-sized blood vessels in the arms and/or legs become inflamed and blocked (vasculitis).[1][2] This reduces blood flow to affected areas of the body, eventually resulting damage to tissues.[1] Symptoms of Buerger disease may include coldness, numbness, tingling or burning, and pain. Symptoms may first be felt in the fingertips or toes, and then move further up the arms or legs. Additional symptoms that may develop include changes in the texture and color of the skin, Raynaud's phenomenon, painful muscle cramps, swelling (edema), skin ulcers, and gangrene.[2] Rare complications that have been reported include transient ischemic attacks or stroke, and heart attack.[3]

Buerger disease almost always occurs in people who use tobacco, but it is not known exactly how tobacco plays a role in the development of the disease.[1][4] Some people may have a genetic predisposition to Buerger disease. It is also possible that Buerger disease is an autoimmune disease, as the immune system seems to play a large role in its development.[3][4] More research is needed to identify the exact underlying causes.[4]

Quitting all forms of tobacco is an essential part of stopping the progression of the disease.[4] There are no definitive treatments, but certain therapies may improve symptoms in some people.[5] Therapies that have been reported with varying success include medications to improve blood flow and reduce the risk of clots, pain medicines, compression of the arms and legs, spinal cord stimulation, and surgery to control pain and increase blood flow. Amputation may be necessary if gangrene or a serious infection develops.[4][5]

Symptoms

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
Arterial thrombosis
Blood clot in artery
0004420
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Skin ulcer
Open skin sore
0200042
Vasculitis
Inflammation of blood vessel
0002633
30%-79% of people have these symptoms
Acrocyanosis
Persistent blue color of hands, feet, or parts of face
0001063
Arthralgia
Joint pain
0002829
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
5%-29% of people have these symptoms
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased

[ more ]

0000975
Insomnia
Difficulty staying or falling asleep
0100785
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Limb pain
0009763
Pain
0012531
Raynaud phenomenon
0030880

Cause

Buerger disease has a strong relationship to cigarette smoking. This association may be due to direct poisoning of cells from some component of tobacco, or by hypersensitivity to the same components. Many people with Buerger disease will show hypersensitivities to injection of tobacco extracts into their skin. There may be a genetic component to susceptibility to Buerger disease as well. It is possible that these genetic influences account for the higher prevalence of Buerger disease in people of Israeli, Indian subcontinent, and Japanese descent. Certain HLA (human leukocyte antigen) haplotypes have also been found in association with Buerger disease.[6][5]

Treatment

Currently there is not a cure for Buerger disease, however there are treatments that can help control it. The most essential part of treatment is to avoid all tobacco and nicotine products.[7][4][8] Even one cigarette a day can worsen the disease.[7] A doctor can help a person with Buerger disease learn about safe medications and programs to combat smoking/nicotine addiction. Continued smoking is associated with an overall amputation rate of 40 to 50 percent.[8]

The following treatments may also be helpful, but do not replace smoking/nicotine cessation:[4][7][8]

Medications to dilate blood vessels and improve blood flow (e.g., intravenous Iloprost)
Medications to dissolve blood clots
Treatment with calcium channel blockers
Walking exercises
Intermittent compression of the arms and legs to increase blood flow to your extremities
Surgical sympathectomy (a controversial surgery to cut the nerves to the affected area to control pain and increase blood flow)
Therapeutic angiogenesis (medications to stimulate growth of new blood vessels)
Spinal cord stimulation
Amputation, if infection or gangrene occurs

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

      • The Vasculitis Foundation has an information page on Buerger disease. Click on the link above to view this information page.
      • MayoClinic.com has an information page on Buerger disease.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • The Merck Manuals Online Medical Library 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 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. 
        • 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 Buerger disease. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

          • Torpy JM, Lynm C, Glass RM. Vasculitis. The Journal of the American Medical Association. 2007; 289(6):706.

            References

            1. Thromboangiitis obliterans. MedlinePlus Medical Encyclopedia. July 21, 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000172.htm.
            2. Thromboangiitis Obliterans. Merck Manual. https://www.merckmanuals.com/home/heart-and-blood-vessel-disorders/peripheral-arterial-disease/thromboangiitis-obliterans. Accessed 3/21/2018.
            3. Vijayakumar A, Tiwari R, Prabhuswamy VK. Thromboangiitis Obliterans (Buerger's Disease)—Current Practices. Int J Inflam. 2013; 2013:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3786473/.
            4. Buerger's disease. MayoClinic. March 7, 2018; https://www.mayoclinic.org/diseases-conditions/buergers-disease/basics/definition/con-20029501?METHOD=print.
            5. Nassiri N. Thromboangiitis Obliterans (Buerger Disease). Medscape. December 19, 2016; https://emedicine.medscape.com/article/460027.
            6. Mitchell RN, Schoen FJ. Blood vessels. In: Kumar. Robbins and Cotran Pathologic Basis of Disease, Professional Edition , 8th ed.. Philadelphia, PA: Saunders; 2009;
            7. Ferri F. Thromboangiitis obliterans. In: Goldman-Cecil Medicine. Ferri's Clinical Advisor 2016. Philadelphia, PA: Elsevier, Inc; 2016; Accessed 6/16/2015.
            8. Mohler ER, Olin JW. Thromboangiitis obliterans (Buerger's disease). In: Hunder GG, Eidt J, Mills JL eds. UpToDate. Waltham, MA: UpToDate; 2015; Accessed 6/16/2015.

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