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Disease Profile
Behçet disease
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.
1-9 / 100 000
Age of onset
Adult
ICD-10
M35.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Behçet's syndrome; Behçet syndrome; BD;
Categories
Blood Diseases; Eye diseases; Kidney and Urinary Diseases;
Summary
Behçet disease is a chronic multisystem inflammatory disorder characterized by ulcers affecting the mouth and genitals, various skin lesions, and abnormalities affecting the eyes. In some people, the disease also results in
Treatment is symptomatic and supportive. Research is being conducted on the use of interferon-alpha and with agents which inhibit tumor necrosis factor (TNF) for the treatment of Behçet disease. Behçet disease is a lifelong disorder that comes and goes. Spontaneous
Symptoms
- Sores inside the mouth or genitals: The earliest symptom of Behçet disease is usually painful canker round or oval sores with reddish borders on the mucous membranes that line the mouth (aphthous stomatitis) or in the skin of the genitalia. They may be shallow or deep and may be single or multiple lesions that typically heal within a few days, up to a week or more, without scarring, but frequently recur.
- Eye problems: Symptoms may include inflammation of the back of the eye (posterior uveitis); inflammation of the anterior chamber (anterior uveitis or iridocyclitis); inflammation of the iris accompanied by pain, tearing (lacrimation); and accumulation of pus (hypopyon iritis). The retina may become inflamed resulting in blurred vision, abnormal sensitivity to light (photophobia), and/or inflammation of the thin membranous layer of blood vessels behind the retina (chorioretinitis). Repeated recurrences may result in the partial loss of vision (decreased visual acuity) or complete blindness if the disease is uncontrolled. In some cases, eye abnormalities may be the first symptom of Behçet disease or they may not develop until several years after the sores of the mouth.
- Pus-filled lesions and other problems on the skin: Some affected individuals, especially females, may develop lesions that resemble those of erythema nodosum, a skin disorder characterized by the formation of tender, reddish, inflammatory nodules on the front of the legs. These nodules disappear on their own (spontaneously) sometimes leaving faint scars or discoloration (pigmentation). Some people with Behçet disease may develop small eruptions that resemble acne (acneiform eruptions) and/or inflammation that mistakenly appear to affect the hair follicles on the skin (pseudofolliculitis).
- Pain in the joints (50% of cases): Affected individuals have pain (arthralgia) and swelling in various joints (knees, wrists, elbows and ankles), before, during, or after the onset of the other symptoms.
- Recurring ulcers in the digestive tract: Symptoms vary from mild abdominal discomfort to severe inflammation of the large intestine and rectum accompanied by diarrhea or bleeding.
- Problems of the
central nervous system (10%-20% of the cases): These symptoms usually appear months or years after the initial symptoms of Behçet disease. Recurring attacks of inflammation involving the brain (parenchymal Neuro-Behçet) or the membranes that surround the brain or spinal cord (meningitis ) can result in neurological damage. Symptoms may include headache, cranial nerve palsies, the inability to coordinate voluntary movement (cerebellarataxia ), impaired muscle movements of the face and throat, stroke, memory loss and/or, rarely,seizures . - Inflammation of the blood vessels (vasculitis): Involvement of small vessels is thought to drive many of the problems that the disorder causes. In some instances inflammation of the large veins, particularly those in the legs may occur along with the formation of blood clots (thrombophlebitis). The walls of an involved artery may bulge forming a sac (aneurysm). In very rare cases, blood clots from the veins travel to the lungs (pulmonary emboli) resulting in episodes of chest pain, coughing, difficult or labored breathing (dyspnea), and coughing up blood (hemoptysis).
It is especially important to identify Behçet disease when there is ocular, central nervous system or large blood vessel involvement because these as manifestations are usually the most serious.[1]
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 | |||
Joint inflammation
|
0001369 | ||
Fatigue |
Tired
Tiredness
[ more ] |
0012378 | |
Fever | 0001945 | ||
Meningitis | 0001287 | ||
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 | |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 | |
Nausea and vomiting | 0002017 | ||
Oral ulcer |
Mouth ulcer
|
0000155 | |
Orchitis |
Inflammation of testicles
|
0100796 | |
Papule | 0200034 | ||
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 | |
Recurrent aphthous stomatitis |
Recurrent canker sores
|
0011107 | |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 | |
Vasculitis |
Inflammation of blood vessel
|
0002633 | |
30%-79% of people have these symptoms | |||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 | |
Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ] |
0008066 | |
Acne | 0001061 | ||
Arthralgia |
Joint pain
|
0002829 | |
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ] |
0001289 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 | |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 | |
Hemiparesis |
Weakness of one side of body
|
0001269 | |
Immunologic hypersensitivity | 0100326 | ||
Venous thrombosis |
Blood clot in vein
|
0004936 | |
5%-29% of people have these symptoms | |||
Abnormal myocardium morphology | 0001637 | ||
Abnormal pyramidal sign | 0007256 | ||
Anorexia | 0002039 | ||
Aortic regurgitation | 0001659 | ||
Arterial thrombosis |
Blood clot in artery
|
0004420 | |
Ataxia | 0001251 | ||
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 | |
Blindness | 0000618 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | ||
Cerebral ischemia |
Disruption of blood oxygen supply to brain
|
0002637 | |
Cranial nerve paralysis | 0006824 | ||
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | ||
Encephalitis |
Brain inflammation
|
0002383 | |
Endocarditis | 0100584 | ||
Gangrene |
Death of body tissue due to lack of blood flow or infection
|
0100758 | |
Glomerulopathy | 0100820 | ||
Hemoptysis |
Coughing up blood
|
0002105 | |
Hyperreflexia |
Increased reflexes
|
0001347 | |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 | |
Irritability |
Irritable
|
0000737 | |
Keratoconjunctivitis sicca |
Dry eyes
|
0001097 | |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 | |
Malabsorption |
Intestinal malabsorption
|
0002024 | |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 | |
Mitral regurgitation | 0001653 | ||
Myocardial infarction |
Heart attack
|
0001658 | |
Myositis |
Muscle inflammation
|
0100614 | |
Pancreatitis |
Pancreatic inflammation
|
0001733 | |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 | |
Pericarditis |
Swelling or irritation of membrane around heart
|
0001701 | |
Pleural effusion |
Cause The exact cause of Behçet disease is unknown. Most symptoms of the disease are caused by inflammation of the blood vessels (vasculitis). Inflammation is a characteristic reaction of the body to injury or disease and is marked by four signs: swelling, redness, heat, and pain. Doctors think that an autoimmune reaction may cause the blood vessels to become inflamed, but they do not know what triggers this reaction. Under normal conditions, the
Researchers think that two factors are important for a person to develop Behçet disease:[3][4]
Treatment Although there is no cure for Behçet disease, people can usually control symptoms with proper medication, rest, exercise, and a healthy lifestyle. The goal of treatment is to reduce discomfort and prevent serious complications such as disability from
Topical medicine is applied directly on the sores to relieve pain and discomfort. For example, doctors prescribe rinses, gels, or ointments. Creams are used to treat skin and genital sores. The medicine usually contains Doctors also prescribe medicines taken by mouth to reduce inflammation throughout the body, suppress the overactive
Interferon-alfa, azathioprine, and TNF-α blockers may be tried in rare cases of patients with resistant, prolonged, and disabling attacks.[5] The European League Against Rheumatism (EULAR) has recommendations for the management of Behçet disease. For ocular disease, azathioprine is the first medication that should be used. For severe Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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
Social Networking Websites
Organizations Providing General Support
Learn moreThese 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
In-Depth Information
References
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