Behçet's syndrome

Content

Introduction

Introduction

Behçet's disease, or syndrome, is a rare and little-known autoimmune disease in which the immune system attacks its own blood vessels (veins and arteries) and inflames them. It is therefore a vasculitis persistent over time (chronic) which can affect many organs. It is named after the Turkish dermatologist Hulusi Behçet who first described it in 1937.

Detecting (diagnosing) Behçet's syndrome can be difficult because the disorders it causes (symptoms) are generic and common to other diseases as well. The main ones include:

  • small wounds (canker sores) in the mouth and on the genitals
  • inflammation of the vascular layer of the eye (posterior uveitis or panuveitis)
  • skin rashes, similar to acne
  • headache
  • joint pain, stiffness and swelling

Most people alternate between periods when the symptoms (symptoms) are more severe (exacerbations or relapses) and others when they disappear completely (remission).

Behçet's syndrome can evolve extremely severely but over time some disorders can stabilize and become less annoying.

It mainly affects young males and is more frequently distributed in the Mediterranean basin.

People with Behçet's syndrome are believed to have a genetic predisposition to develop it.

The treatment consists in controlling the disorders with drugs that reduce inflammation:

  • corticosteroids, potent anti-inflammatory drugs
  • immunosuppressants, medicines that reduce the activity of the immune system
  • biological therapies, drugs that act on the biological processes involved in inflammation
Symptoms

Symptoms

During the course of the disease, periods in which the disorders are not present (remission) may alternate with others in which they appear with different levels of severity (relapses and exacerbations).

The main disorders (symptoms) caused by Behçet's disease include:

  • oral ulcers, 97-99% of people develop mouth ulcers (sores) that look the same as normal canker sores, but they can be more numerous and painful. They appear most often on the tongue, lips, gums and inside of the cheeks. They usually heal within a couple of weeks without scarring, although they often return.
  • genital ulcersare a common disorder of Behçet's syndrome. In men, they usually appear on the scrotum. In women, they occur on the neck of the uterus, vulva, or vagina. Genital ulcers are usually painful and leave scars in about half of cases. In men, inflammation (swelling) of the testicles can also occur, and women can experience pain in sexual intercourse. Genital ulcers caused by Behçet's disease are not contagious and cannot be transmitted through sexual intercourse
  • skin lesions, very frequent, mainly include papules and pustules, ie spots similar to those of acne, but also pseudofolliculitis and erythema nodosum (characterized by painful nodules on the skin). Generally, they heal within 14 days although they frequently return. from erythema nodosum can leave areas of skin colorless
  • uveitis, inflammation of the vascular layer of the eye (uvea) is another common disorder (symptom) of Behçet's syndrome. It occurs in about half of cases and often develops suddenly. The most common uveitis is posterior, the most severe form. Sometimes, both eyes can be affected at the same time. If symptoms such as:
    • pain and redness of the eyes
    • points that move in the field of view
    • blurred vision
    it is necessary to immediately contact the eye specialist, the "ophthalmologist.
    In severe cases, eye inflammation can lead to permanent vision loss. However, this rarely happens with quick and proper treatment.
  • joint inflammation, Behçet's disease affects the joints in two out of three people, causing arthritis-like disorders such as pain, stiffness, swelling, warmth and tenderness. The joints most often affected include the knees, ankles, wrists and Permanent joint damage, however, is rare and disorders can generally be successfully controlled
  • patergia and patergy-testIn some people with Behçet's syndrome, the skin is particularly sensitive to injury or irritation. This phenomenon is known as patergia, that is a non-specific hyper-reactivity that occurs on the skin after a puncture with a needle and that regresses spontaneously. If the person is positive for the pathergy test, a papule larger than 2 millimeters will develop after 48 hours
  • gastrointestinal disorders, such as inflammation of the stomach and intestines, which can cause:
    • malaise and vomiting
    • abdominal pain
    • indigestion
    • loss of appetite
    • diarrhea with bleeding
  • thrombosis, the inflammation of the lining of blood vessels associated with Behçet's syndrome can sometimes cause a deep vein thrombosis (DVT), which is the formation of a blood clot in a deep vein, usually in the legs. Symptoms of DVT include severe pain in the affected area, swelling, warmth, and redness of the skin in the area where the clot has formed. DVT requires immediate medical attention. If you suspect that you have a DVT you should go to the emergency room immediately. closer
  • cerebral venous thrombosis (TVC), less common, occurs when a blood clot develops inside the blood vessels between the outer and inner layers of the brain. The clot can lead to a "disruption of blood flow to the brain (stroke). . Disorders resulting from cerebral venous thrombosis include:
    • bad headache, described as throbbing, piercing, or as a very sharp and sudden pain
    • slurred speech (slurred speech)
    • convulsions
    • hearing loss
    • double vision
    • stroke symptoms, such as muscle weakness or paralysis of both sides of the body
    TVC should be considered a "medical emergency. If a stroke is suspected, call 112 or 118 immediately to request an" ambulance
  • aneurysms, the inflammation can weaken the walls of blood vessels and cause them to dilate outward due to the pressure inside them. This swelling is known as aneurysm. Usually, they don't cause any noticeable disturbance unless the blood vessel wall becomes so weak that it breaks. The rupture of an aneurysm can cause different disorders depending on where it formed:
    • pain in a limb or sudden headache
    • dizziness
    • breathlessness
    • cough with blood
    • confusion
    • loss of consciousness
  • inflammation of the nervous system, when it occurs it causes the most serious disorders associated with Behçet's syndrome. They develop rapidly over a few days and can include:
    • headache
    • double vision
    • loss of balance
    • convulsions
    • partial paralysis (on one side of the body)
    • behavioral or personality changes
  • general ailments, due to extreme physical or mental tiredness (fatigue) people with Behçet's disease may have problems performing any type of activity
Causes

Causes

In Behçet's disease, the immune system recognizes its own blood vessels as foreign and attacks them. It is not clear what the triggering cause is, but we think about:

  • genetic predisposition, the researchers think that there is a genetic predisposition and that the disease in the predisposed individual is triggered by external factors not yet known. Behçet's syndrome is often associated (in about 72% of cases) with the histocompatibility antigen (molecules present on the cell membrane) HLA-B51, especially in people originating from the Mediterranean basin and the Far East
  • environmental factorsAlthough a specific environmental factor has not yet been identified, it has been observed that people belonging to an at-risk ethnic group living outside their native country are less likely to get Behçet's syndrome. The disease is more common in the Far East, the Middle East and Mediterranean countries such as Turkey, Iran and Israel (ancient "silk road")
Diagnosis

Diagnosis

To ascertain (diagnose) Behçet's disease, or to rule out other possible causes of the disorders present, several tests may be required:

  • blood analysis
  • urine analysis
  • instrumental imaging tests: X-rays, computed tomography (CT) or magnetic resonance imaging (MRI)
  • removal of a small piece of skin (skin biopsy)
  • patergy-test, tests to discover a particular sensitivity of the skin to wounds or irritation
  • search for the HLA-B51 class I histocompatibility antigen, useful for ascertaining (diagnosing) the disease

Current guidelines indicate that Behçet's disease can be safely ascertained (diagnosed) if at least three episodes of mouth ulcers have occurred in the past 12 months in combination with at least two of the following disorders (symptoms):

  • genital ulcers
  • eye inflammation (uveitis)
  • skin lesions
  • patergia (hypersensitive skin)
Therapy

Therapy

Currently, there is no cure for Behçet's disease, but a range of therapies can help relieve symptoms (symptoms) and reduce the risk of serious complications.

Once the presence of Behçet's disease has been confirmed, several specialists with experience in treating the disease should be consulted to prepare an individual treatment plan. The specialists involved include:

  • dermatologist
  • oral medicine specialist
  • rheumatologist
  • ophthalmologist
  • neurologist

The treatment plan involves the use of a combination of different drugs. Depending on the type and severity of the complaints (symptoms) it may be necessary to take long-term medications to avoid the development of serious complications such as loss of view.

Medicines

Different categories of drugs can be used to treat the various ailments (symptoms) of Behçet's disease:

  • corticosteroids
  • immunosuppressants
  • biological therapies

Corticosteroids

Corticosteroids are powerful anti-inflammatory drugs. Depending on the disorders to be treated, the following can be used:

  • topical corticosteroids, eye drops, creams or gels to be applied directly on the affected area
  • oral corticosteroids, tablets or capsules that reduce inflammation in the general way
  • corticosteroids for injection, used occasionally

Long-term use of oral corticosteroids is associated with some undesirable effects (side effects) which include:

  • increased appetite, which leads to weight gain
  • mood swings
  • increased pressure in the eye (glaucoma)
  • high blood pressure (hypertension)
  • bone fragility (osteoporosis)
  • cataract
  • diabetes

Immunosuppressants

Immunosuppressants are drugs that reduce the activity of the body's defense system (immune system) thus interrupting the inflammatory process that causes most of the symptoms (symptoms) of Behçet's disease.

Examples of immunosuppressive drugs used in Behçet's syndrome include: azathioprine, cyclosporine, methotrexate, mycophenolate mofetil, and thalidomide. These drugs are usually available in tablets, capsules, and injections. Colchicine, an anti-inflammatory medicine often used for gout, may also be helpful.

Although immunosuppressants can be used in the treatment of a wide range of Behçet's disease disorders, they can cause unwanted effects (side effects) which include:

  • effects on blood cells and liver, regular checks of their functioning through blood tests may be required
  • increased risk of infectionsany signs of possible infection should be reported to your doctor as soon as possible
  • malaise and vomiting
  • abdominal pain
  • diarrhea
  • temporary hair loss
  • tingling
  • muscle cramps and weakness

Since some immunosuppressants can also cause defects in the unborn baby, they should not be taken if you are pregnant or planning a pregnancy.

Biological therapies

Biological therapies consist of new drugs that target biological processes involved in inflammation. For example, a group of drugs called tumor necrosis factor alpha inhibitors (TNFalpha inhibitors) works by blocking the molecule TNFalfa which causes much of the inflammation associated with Behçet's disease.

Biological therapies can cause a number of unwanted effects (side effects) which include:

  • increased risk of infections
  • headache
  • dizziness
  • nausea
  • muscle and joint pain
  • sudden heartbeats (palpitations)
  • increased heart rate (tachycardia)

Signs of possible infection should be reported to your doctor as soon as possible.

Treatment of specific disorders (symptoms)

The specific medications used for Behçet's syndrome vary according to the disorder being treated:

  • ulcers and skin lesions, topical corticosteroids, such as creams, mouthwashes, and sprays, are usually the first recommended treatment for mouth and genital ulcers. For severe ulcers and lesions that do not respond to other treatments, immunosuppressive or biological therapies are recommended
  • uveitisDue to the potential risk of vision loss, any eye inflammation caused by Behçet's disease should be carefully evaluated by an ophthalmologist. Treatment of eye inflammation often involves the use of azathioprine and corticosteroid tablets or eye drops. In severe cases, if corticosteroids have not worked, treatments with mycophenolate mofetil, cyclosporine or biological therapies
  • articolar pains, conventional pain relievers, such as acetaminophen, and non-steroidal anti-inflammatory drugs (NSAIDs) can sometimes help relieve pain. Colchicine given as tablets may be useful for reducing joint inflammation. In severe cases, if treatments have not worked, azathioprine or biological therapies may be recommended.
  • gastrointestinal disordersSeveral medications including corticosteroids, immunosuppressants, and biological therapies can be used to reduce the inflammation of the stomach and intestines caused by Behçet's disease. Sometimes, bowel inflammation causes damage and bleeding and, although rarely, emergency surgery may be needed to stop the bleeding.
  • headacheIn cases of Behçet's syndrome, headaches are treated the same way as migraines: drugs to prevent headaches such as beta-blockers or drugs to relieve headaches, such as NSAIDs
  • thrombosis, thrombosis is usually treated with anticoagulants, drugs that help thin the blood and reduce the risk of clot formation that can block its flow. In the case of Behçet's syndrome, the use of anticoagulants is controversial because clots tend to stick to the walls of blood vessels rather than detach and travel through the blood. Furthermore, the use of anticoagulants could increase the risk of ruptured aneurysms. causing severe internal bleeding. Blood clots, therefore, are treated with a combination of corticosteroids and immunosuppressants to reduce inflammation of the blood vessels. Anticoagulants are used only if it is certain that there are no aneurysms
  • aneurysms, aneurysms are treated with a combination of corticosteroids and immunosuppressants or with cyclophosphamide infusions to reduce inflammation in the affected blood vessel and prevent worsening of the aneurysm. Surgical interventions or procedures (stents) may also be considered
  • inflammation of the central nervous system, less severe disorders caused by inflammation of the central nervous system, such as double vision, may improve on their own without the need for treatment. More severe disorders, such as paralysis and behavioral changes, require treatment with corticosteroids or immunosuppressant injections or therapies biological
  • pregnancy and fertility, Behçet's syndrome does not affect female fertility but it is important that every pregnancy is planned where possible. In fact, many drugs used to treat the disease, such as thalidomide, can cause defects in the unborn child. It is advisable to speak with doctors, before becoming pregnant, to adapt the treatment plan and avoid risks. Behçet's disease could compromise male fertility. This can occur as a result of the disease itself or due to side effects of some immunosuppressive drugs. Colchicine, for example, can temporarily reduce sperm count
  • Behçet's disease neonatal, present at birth, can cause ulcers in the baby's genitals and mouth. It is extremely rare and can be treated with corticosteroid drugs to relieve symptoms (symptoms). The disease usually resolves within six to eight weeks of birth
Bibliography

Bibliography

NHS. Behçet "s disease (English)

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