Behçet’s disease (BD) is a rare immune disorder that causes inflammation of the blood vessels. It can affect both arteries and veins of any size.
The most common symptoms are sores in the mouth and/or genitals but it can also affect the skin, eyes (causing the conditions iritis or uveitis), joints (arthritis) and other organs.
Behçet’s disease belongs to a family of arthritic diseases called vasculitis. The word vasculitis means inflammation of blood vessels.
It can be tough to diagnose Behçet’s disease because of how its symptoms vary from person to person. It is usually best identified by a rheumatologist.
It is very important that Behçet’s disease is treated as early and aggressively as possible to prevent serious damage to blood vessels and the tissues that they in turn supply with blood.
Behçet’s disease is typically diagnosed in young adults between the ages of 20 to 40. It affects men and women equally. It is more prevalent in people whose descendants are from the “Asian silk route” from the Far East through to the Middle East and the Mediterranean. It is most common in Turkey. A gene called HLA-B51 has been associated with the disease.
Behçet’s disease tends to flare: there may be periods where symptoms are well controlled and other times they flare up and get worse. In many patients, symptoms of the disease become less severe over time.
Understanding Behçet’s Disease
Behçet’s disease presents a wide variety of potential symptoms and can be very different from person to person.
It also tends to flare up and down. That means that many people with Behçet’s disease experience periods where their symptoms are well controlled and other times they flare up again.
Like many other types of vasculitic (vasculitis family) diseases, the first symptoms that most people experience are similar to the flu. They might start feeling unwell and commonly have a fever, achiness, and perhaps weight loss. These symptoms can last for some time. As these symptoms are not specific, a diagnosis can be difficult in the early stages.
The most frequent symptom in people with established Behçet’s are sores in the mouth. They may be present all the time, or they may come and go. It’s typical for a person with the disease to have around 3 attacks of these sores per year.
Sores on the genitals are also very common. In men, the sores could appear on the scrotum or glans (top part) of the penis. In women, sores might be found on the vulva or in the vagina.
Skin rashes are also common and elevated bumps on the skin called pustules may appear. This can look a lot like acne.
The eyes can also be affected by Behçet’s. A condition called iritis or uvetitis may be present, which is a type of inflammation of the inner parts of the eye.
Arthritis can be a symptom of Behçet’s disease. This can result in pain and swelling of he affected joint. The arthritis can be intermittent and come when the disease flares.
Behçet’s disease can cause inflammation of the large arteries such as the pulmonary artery, which brings blood from the heart to the lungs. If these vessels are involved, patients might experience shortness of breath, a cough or chest pain. Inflammation can affect veins of any size. When this happens, there is an increased risk of blood clots.
Other Organs and Tissues
Behçet’s can cause various other symptoms depending on which blood vessels are affected, and which organs and/or tissues they supply blood to.
Behçet’s disease less frequently affects the nerves, gastrointestinal system (stomach & bowels), kidneys and heart.
Behçet’s disease is best diagnosed by a rheumatologist, a type of doctor that specializes in arthritis, autoimmune, and autoinflammatory diseases.
Behçet’s can be tricky to diagnose and having someone experienced is very useful.
To diagnose Behçet’s, a rheumatologist will take a careful and complete history and perform a thorough physical examination. The doctor will be seeking to confirm that their patient meets a “checklist” of characteristic signs and symptoms associated with Behçet’s disease. Among other considerations, they will look for frequent sores in the mouth or genitals, lesions on the eyes or skin, and may conduct a pathergy test (“skin prick test”) to see if there is a positive result.
Next, they will usually order blood tests, x-rays, and other types of tests to confirm their diagnosis and rule out other possible conditions.
Common Tests for Behçets Disease
Pathergy (“Skin Prick”) Test
This test involves 3 skin pricks. If an irritation in the form of a skin lesion or pustule (ulcer) develops at the sites of the needle prick (this is called pathergy), then the test is positive. This result is sometimes seen in people who have Behçet’s disease.
Blood tests looking for inflammation: Behçet’s is an autoinflammatory disease so these tests are expected to have abnormal results. Common tests include a Complete Blood Count (CBC), Erythrocyte Sedimentation Rate (ESR), and C-Reactive Protein (CRP)
Blood tests to rule out other forms of vasculitis: The Anti-neutrophil cytoplasmic antibody (ANCA) test can help rule out other forms of vasculitis.
Blood tests looking for a genetic marker: A positive genetic test for a gene called HLA-B51 can support a diagnosis of Behçet’s disease because it is more common in people who have this gene.
X-rays: A baseline (start) chest X-ray is often ordered so doctors can look for changes to the pulmonary arteries and monitor the progression of the disease over time.
Looking for nerve involvement: Nerve conduction studies can be performed to look for nerve involvement
Scientists don’t know what causes Behçet’s disease, but it is thought to be an autoinflammatory disease. An autoinflammatory disease is caused by a malfunction with the innate immune system. An autoimmune disease is different as is caused by a malfunction of the adaptive immune system.
It is suspected that something in the environment triggers the inflammation underlying Behçet’s disease in people who have the right mix of genes.
A cause related to genetics is supported by the fact that Behçet’s is most common in Turkey and is prevalent along the “Asian silk route”, a part of the world that stretches from the Far East through to the Middle East and the Mediterranean.
Behçet’s disease should be treated early and aggressively to avoid permanent damage to blood vessels, organs, and other tissues.
A rheumatologist, a type of doctor that specializes in arthritis and autoimmune disease, is one of the best people to help people with BD manage their condition. Depending on a patient’s individual symptoms, they may need to see other doctors as well, such as a lung specialist (respirologist). Patients might also want to consider attending a vasculitis clinic to receive services and support from a team of experts in vasculitis diseases.
There are many medications that can be used to treat Behçet’s disease. The choice of medications depends on the specific symptoms that a person with Behçet’s is experiencing.
In the short-term, prednisone works very well to rapidly control common symptoms such as mouth and genital sores, eye inflammation and skin rashes. In some cases it may be used for longer periods of time, but this increases the risk of side effects. Patients should to discuss the risks and benefits of using prednisone with their rheumatologist.
Mouth or genital sores
Topical corticosteroid medications can be applied directly to sores in the mouth or genitals as prescribed by a doctor. Another option is a medicine called Colcrys (colchicine), which can be taken orally. Another medication called Otezla (Apremilast) has also been found to be helpful in patients with oral ulcers.
Prednisone can be used when topical medications, Colcrys (colchicine), or Otezla (apremilast) are not effective. Other immune modulating agents such as Imuran (azathioprine), Neoral (cyclosporine), thalidomide, and a class of drugs called anti-TNF biologics can be used when prolonged high doses of prednisone are required.
For skin rashes, topical corticosteroid medications can be applied directly to the affected area. Another option is a medicine called colchicine, which can be taken orally. Prednisone is often used with colchicine for severe skin rashes. Other immune modulating agents such as azathioprine (Imuran) can also be used.
If the eyes are affected, steroid drops (that control inflammation) and dilating drops (that open or expand the pupils) will be prescribed. In some cases oral steroids like prednisone may be required. If the disease is further back in the eye (posterior) other immune modulating medications are used.
Swollen joints may be treated with medications called Non-Steroidal Anti-Inflammatory Drugs (NSAIDs). Luckily there are about 20 different anti-inflammatory medications available. So if one doesn’t work for you, try another. Other systemic therapies used for arthritis include prednisone, colchicine, azathioprine (Imuran), methotrexate, and anti-TNF medications.
Vascular Disease and Other Major Organ Involvement
Prednisone is used for any serious organ involvement including vascular disease.
Other immune modulating medications such as Cytoxan (cyclophosphamide), Neoral (cyclosporine) or Imuran (azathioprine) can also be used to control symptoms and prevent long-term damage. These medications are effective, but may take a few months before the effects are felt.
In more severe cases where other medications are not successful, a newer group of medications called anti-TNF biologics may be prescribed. Examples include Remicade (infliximab), Humira (adalimumab) and Enbrel (etanercept). A medication called thalidomide also has anti-TNF effects.
When other organs are involved, combinations of the above medications are often used. For example, DMARDs can be used in combination with prednisone. Biologics are often given in combination with DMARDs or prednisone. Combination therapy has been shown to work better than treatment with either medication alone. Using biologics can also help reduce the dose of prednisone that is used over the long-term.
Analgesic (pain relief) medications can be used to help control pain. They do nothing to control or to prevent damage to tissues such as joints. Analgesics can range from simple things like acetaminophen (paracetamol, Tylenol) to more potent narcotics like morphine.