BEHÇET SYNDROME: SYMPTOMS, CAUSES AND TREATMENT - GEOGRAFÍA - 2024

The Behçet 's syndrome is characterized by inflammation of blood vessels throughout the body, along with a number of signs that can be ignored; such as mouth and genital ulcers, eye inflammation, and skin rashes. However, the symptoms vary according to each patient and, in some cases, they can recover spontaneously.

For now, the exact causes of this disease are unknown, although there appears to be a genetic predisposition to it. For this reason, treatment is aimed at alleviating signs and symptoms and to prevent serious complications.

Behçet's syndrome, which also appears in the medical literature as “BD” for its acronym in English “Behçet Disease”, arose in 1937 when a Turkish dermatologist named Hulusi Behçet described its symptoms for the first time. Although according to Rabinovich (2016), it is possible that it had already been described in the 5th century by Hippocrates.

This disease encompasses a series of aspects, which is why it is called multisystemic and is divided into neuro-behçet, ocular-Behçet and vasculo-Behçet according to the affected systems.

Causes of Behçet syndrome

The exact cause of this syndrome has not yet been detected. It seems that it has a genetic background, with some people being more predisposed to presenting it than others. Being predisposed to the syndrome means that, if a person carries the gene related to the disease, it can arise if they are exposed to certain triggering environments.

On the other hand, it seems that patients whose father or mother has this disease develop Behçet's syndrome at an earlier age, which is called genetic anticipation.

It has been shown that many of the patients with Behçet syndrome have more HLA (Human Leukocyte Antigens) in their blood than healthy people, especially the allele of the HLA-B51 gene.

It is not really known what role HLAs play in disease, but knowing the role of these antigens can give us a clue; which consists of participating in the immune response, defending the body from potentially dangerous external agents.

In this way, it may be related to autoimmune disorders, which consist of a malfunction of the immune system. In this way, instead of protecting the body from possible threats, healthy cells are attacked and damaged.

Possible causes are currently being investigated, considering the role of other genetic markers, bacterial infections or viruses, and even thinking that it may be an auto-inflammatory disorder. That is, a condition in which the body is unable to regulate inflammatory processes.

In fact, it has been proven that infections can participate in the onset of the disease, since those affected by Behçet syndrome have a higher incidence of antibodies to hepatitis C virus, herpes simplex virus, and human parvovirus B19, in addition to streptococcal antigens. All this, coupled with environmental factors, could trigger the disease.

Symptoms

The symptoms of Behçet syndrome vary according to each person and affected areas of the body, and can disappear and reappear for no apparent reason. Generally, it seems that as time goes on the symptoms become less severe.

The main symptoms of the disease are vasculitis, skin lesions, ulcers in the mouth and genitals, and eye problems that can lead to blindness. We describe the symptoms of Behçet syndrome in more detail below:

- Lesions (canker sores or painful sores) on the inner lining of the mouth and ulcers on the genitals. Canker sores heal on their own in about 3 weeks, although in this syndrome they tend to reappear. These are the most common signs of the disease.

- Skin problems that can be variable, appearing in some people acne-like rashes and in others, red nodules that stand out mainly on the legs. Folliculitis or inflammation of the hair follicles can also occur.

- Inflammation of the eyes or uveitis, inflaming the uvea, the vascular membrane that covers the eye. Uveitis can occur anterior (when the front of the eye or iris swells), posterior (the back of the eye), or panuveitis (when it affects the entire uvea).

This will cause the eyes to look red and lose more and more visual acuity; in addition to pain, lacrimation and photophobia (intolerance to light). In people with the syndrome, this ocular involvement is just a symptom that can come and go.

- Joint problems, especially pain and swelling in the knees; although the wrists, elbows or ankles are also commonly involved. In this case, they are also symptoms that appear and disappear, lasting at most 3 weeks at a time. Eventually it can lead to arthritis.

- Involvement of the blood vessels, more specifically characterized by an inflammation of the arteries and veins that cause the arms or legs to become red, swollen and cause pain to the person. It can also cause blood clots, leading to serious complications such as aneurysms, thrombosis, and narrowing or blockages of the blood vessels.

Many times these vascular lesions can be accompanied by hypercoagulability, which occurs when the blood of the affected person clots much faster than normal.

- Alterations in the central nervous system that can occur in up to 25% of children, being the most serious consequence of the syndrome. Specifically, brain inflammation occurs that causes an increase in intracranial pressure, leading to headaches, confusion, fever, and loss of balance.

It can even cause meningoencephalitis, focal neurological disorders, neuropsychiatric symptoms such as hallucinations, or stroke.

Damage to the brain stem and cerebellum, cranial nerve palsy, or brain pseudotumors have been found in these patients.

- Pulmonary vasculitis, breathing difficulties, chest pains, cough, etc.

- Digestive problems such as abdominal pain, diarrhea or bleeding in the stool.

- A study by Ilhan et al. (2016) it was shown that patients, who are active and suffer from this syndrome, are more fatigued than those affected who are inactive. Additionally, they found that fatigue was associated with depression and anxiety.

Types

We can classify Behçet's disease into different types according to its most outstanding manifestations, which can vary for genetic and racial reasons. We distinguish between:

- Ocular (60-80% of patients). Where uveitis and other complications in vision predominate that would indicate the possible development of blindness.

- Neuro-Behçet (10-30% of patients) Involves the central nervous system progressively; leading to a poor prognosis. It covers meningitis or meningoencephalitis, psychiatric symptoms, neurological deficits, hemiparesis, and brain stem symptoms. Some of the patients go on to develop dementia.

- Vascular. Vascular complications occur in 7 to 40% of patients, and include venous and arterial thrombosis, occlusions of blood vessels, stenosis, and aneurysm.

Prevalence

Behçet's syndrome is a rare disease, especially in the United States and Western Europe. Its prevalence occurs especially in Asia and the Middle East, specifically on the Silk Road.

In Turkey there is the highest prevalence rate of this disease, ranging between 80-370 cases per 100,000 individuals. This is followed by Japan, Korea, China, Iran and Saudi Arabia with a prevalence of 13-20 cases per 100,000 inhabitants; being the main cause of blindness in Japan.

In northern Spain, a prevalence of 0.66 cases per 100,000 individuals has been estimated, while in Germany it is 2.26 cases per 100,000 inhabitants.

On the other hand, central nervous system involvement is more common in the United States and northern Europe.

It usually begins between 30 and 40 years of age, being very rare in young children. The mean age of onset of Behçet syndrome in Turkey is 11.7 years, while its neurological variant is 13 years.

Regarding sex, in the United States, Japan and Korea this syndrome is more common in women than in men (two women for each man), although the symptoms are usually less severe in them. In the countries of the Middle East, the opposite happens, there are more men affected and in a more serious way than women.

Diagnosis

For the diagnosis of Behçet's syndrome, caution must be exercised, since some symptoms can occur in many other conditions and diseases that do not necessarily constitute this syndrome.

On the other hand, it is important to know that there are no tests specifically designed to detect Behçet's disease.

However, there are a series of diagnostic criteria based on the manifestations of this condition to be able to detect it. Other medical tests will also be recommended to rule out other similar diseases or the level of involvement of the disease. These tests include:

- Blood test.

- Urine analysis.

- X-rays, Computed Tomography (CT) or Magnetic Resonance (MRI).

- Skin biopsy.

- Pathergy test (described below).

The diagnostic criteria used for Behçet syndrome are the following:

- A necessary sign for the diagnosis is mouth ulcers, which have appeared at least 3 times during the period of a year.

In addition, it is essential to present at least 2 signs of the following:

- Genital ulcers that recur over time.

- Eye problems due to inflammation of the eyes or uveitis.

- Acne-like eruptions or sores on the skin.

- Give positive in a skin pathergy test, which consists of injecting the patient into the forearm a minimum amount of physiological serum, which should be safe for the person.

Then the reaction is observed a day or two later, being positive if a red bump forms on the skin, which would indicate that the immune system is not reacting in the proper way. People with this disease do not heal well ulcers and wounds.

However, these criteria can be excessively strict, especially in some children who may have this syndrome and who normally will not develop ulcers in the mouth or genitals.

On the other hand, an attempt should be made to make a differential diagnosis with other diseases with which it can be confused, such as systemic lupus erythematosus, inflammatory bowel disease, Reiter's syndrome or herpes infections.

What is your prognosis?

The prognosis for Behçet syndrome depends on your signs and symptoms. Its course is usually intermittent, with moments of remission and others in which symptoms appear. However, the disease has a natural tendency to disappear.

In patients with vision problems, improper treatment can lead to blindness 3 to 4 years after the onset of eye symptoms.

This disease usually leads to a significant decrease in the quality of life of those who suffer from it.

Treatments

For now there is no cure for this syndrome, the treatment being focused on alleviating the symptoms of the syndrome that each person presents. For example, your doctor may prescribe medications that reduce the inflammation and discomfort caused by rashes, such as skin creams, gels, or ointments.

The most widely used medications are those containing corticosteroids, which can be applied to skin lesions and ulcers, mouthwashes to relieve the pain of sores, eye drops, etc. This helps reduce discomfort when the disease is not so severe.

If topical medications don't do much of an effect, you can opt for colchicine, a drug that has been shown to be helpful in treating arthritis.

Immunosuppressive drugs

However, the signs and symptoms of Behçet syndrome tend to recur, and corticosteroids only eliminate the discomfort, but not what causes it. For this reason, doctors will usually also prescribe immunosuppressive drugs (which control the activity of the immune system, as it attacks healthy cells).

Some of these drugs are: azathioprine, cyclophosphamide or cyclosporine, also using injected interferon alfa-2b. All of them are useful for treating central nervous system disorders, while azathioprine has been shown to be very effective for treating major eye problems.

On the other hand, we must be cautious since these drugs by suppressing the action of the immune system can cause the person to contract infections more frequently. It can also lead to other side effects like high blood pressure or kidney or liver problems.

Blocking drugs

For those affected who are at a higher level of severity, drugs that block a substance called tumor necrosis factor (TNF) may be helpful for some symptoms of Behçet's disease. For example, etanercept or infliximab.

Analysis

If vascular, neurological or gastrointestinal problems have been detected, it is usually recommended that the affected person undergo periodic analyzes in different specialists to control their situation and prevent it from getting worse, in addition to knowing if the treatments are working or not. It is also important to keep this control in vision problems.

References

1. Behcet's Disease. (sf). Retrieved on July 13, 2016, from The Johns Hopkins Vasculitis Center
2. Behçet's syndrome. (sf). Retrieved on July 13, 2016, from the National Organization for Rare Disorders (NORD)
3. Behcet's disease. (sf). Retrieved on July 13, 2016, from Mayo Clinic
4. Behçet's disease. (sf). Retrieved on July 13, 2016, from NHS
5. Ilhan B., Can M., Alibaz-Oner F., Yilmaz-Oner S., Polat-Korkmaz O., Ozen G., et al. (2016). Fatigue in patients with Behcet's syndrome: relationship with quality of life, depression, anxiety, disability and disease activity. Int J Rheum Dis.
6. Behcet's disease. (sf). Retrieved on July 13, 2016, from the Spanish Society of Rheumatology
7. Rabinovich, E. (April 18, 2016). Behcet Syndrome.