Behçet's Disease (BD) is a type of vasculitis that affects arteries and veins of all diameters (see "Vasculitis" section). Oral and vaginal ulcers are the most usual BD symptoms, however other organ systems may also be affected. Patients who are male and younger likely to have more severe disease activity and higher fatality rates. This ailment shows a clear geographic spread. Only 1 in 300,000 people in North America have Behcet Disease, making it a rare condition. Following the historic "silk route" that traders utilized, the countries with the highest occurrence are Turkey, Iran, & Japan. BD is possibly hundreds of times more prevalent among these populations.
There is no known cause of BD. Given that patients from Japan and the Eastern Mediterranean region tend to have greater frequencies of the HLA-B51 genetic marker, genetic factors are thought to be involved. Patients from North America, Europe, & Eastern India, however, do not exhibit a particular genetic marker in laboratory testing. Infections caused by viruses like herpes simplex and bacteria like streptococcus, staphylococcus, & E. coli have also been suggested as potential causes of BD. When examining BD patients, other immunological abnormalities may be discovered, such as the synthesis of proteins that are known to activate white blood cells or boost the immune system. It is unknown at this time if these anomalies are inherited.
BD typically exhibits a pattern of flare-ups and remissions. The overall level of disease severity tends to decline over time. The majority of patients arrive with genital or oral ulcers. After the initial diagnosis, ocular (eye) and central nervous system involvement may appear. Although people with merely oral and cutaneous involvement have low death rates, patients with ocular BD are at high risk of losing their vision. Participation of the central nervous system, gastrointestinal tract, or even other major organ systems is linked to a higher mortality risk.
Almost all BD patients will experience recurring aphthous ulcerations, or sores in the mouth. On the inner lips, tongue, cheeks, & gum line, mucous membrane (mouth) lesions appear as painful, superficial ulcers. In two to three weeks, they usually recover without leaving scars. These ulcers frequently look exactly like canker sores. In about 80% of BD patients, genital ulcers develop. Males typically develop these lesions on the scrotum & penis, whereas females typically develop them on the vulva or vagina. These lesions frequently leave lasting scars after healing, unlike mouth ulcers, however they do not return as frequently.
Cutaneous (skin) lesions can occur in a variety of ways. They can manifest as flat, red, inflamed areas resembling Sweet's syndrome, big, painful ulcers with ragged margins known as pyoderma gangrenosum, or red, painful nodules that resemble erythema nodosum. Other patients may develop purpura as a result of small vessel cutaneous vasculitis (see "Vasculitis" section). Others, particularly in the male "beard" region, may have pustular and acne-like lesions. Pathergy is a peculiar observation that mainly affects Middle Eastern BD sufferers. Following a slight injury, such as blood drawing, this syndrome is characterized as a strong inflammatory response in the skin. Although not prevalent in North American patients, the presence of pathergy strongly suggests BD. The anterior (front) or posterior (rear) parts (or "chambers") of the eye may be involved in BD. Ocular problems frequently manifest as uveitis or iritis, an inflammation of both the iris in the anterior chamber of the eye, plus hypopyon, pus in the anterior chamber. Although patients with these illnesses frequently report mild blurring in one or both eyes as well as "spots" in their field of vision, these conditions can also present with much more dramatic symptoms such as redness, blurring, and discomfort in the affected eye. To avoid progressive vision loss and possibly blindness, which might develop as complications of this illness, it is crucial for BD patients to get routine eye exams by an ophthalmologist.
In BD, arthritis is typically inflamed and not erosive (causing no joint damage). Frequently, only one to three joints—in a symmetrical or asymmetrical distribution—are affected. Knees, wrists, ankles, and elbows are the joints that are most frequently affected. Symptoms of arthritis typically peak for a few weeks before subsiding. The lower portion of the brain known as the brainstem and also the connections between both the brain and spinal cord are typically included in central nervous system (CNS) involvement. Patients may have balance issues, weakness solely on a single side, or, less frequently, impairment in all four limbs. Meningitis, a non-infectious inflammation of the lining of the brain, can cause headaches or behavioural issues. Patients with progressive CNS involvement tend to have a poor prognosis. Aneurysms in the pulmonary artery, pulmonary hypertension, blood clots (emboli) in the lungs, and scarring of the lung tissue are all examples of pulmonary (lung) manifestations of BD. Fistulas, which are connections between an artery and the lung, are extremely rare and manifest as abrupt, heavy blood coughing. This serious issue needs to be identified and treated right away. Heart attacks & inflammation of the heart's lining are two cardiac presentations (pericarditis). Inflammation and clotting of veins (phlebitis), which can affect small veins on the skin's surface or deeper veins as large as the inferior vena cava in the body's core, are examples of vascular (blood vessel) problems.
Pseudo-aneurysms, or swelling around the arteries, can form, sometimes just from pricking the artery with a needle to take blood. The digestive tract may become infected, most frequently in the area where the small intestine connects to the colon. These patients may exhibit gastrointestinal bleeding, bowel perforation, or abdominal pain. For the removal of the affected portion of intestine, this latter consequence necessitates immediate surgical intervention. Nephritis or protein accumulation in the kidney (amyloidosis) are the most common characteristics of BD; renal involvement is uncommon. Amyloidosis often appears when persistent inflammation is not adequately treated.
Health care practitioners may need several months to make the accurate diagnosis because BD has a varied course, with the majority of patients displaying a pattern of exacerbations and remissions. Although nonspecific findings on such examinations may help in the evaluation of the patient and help check out other illnesses like systemic lupus erythematosus, there are no laboratory tests or x-ray findings that can definitively diagnose BD (see related section). The history of the illness as well as the results of the patient's physical examination form the basis for the diagnosis of BD.
Criteria for diagnosing BD were devised in 1990 by an international committee and include:
Recurrent oral ulceration, plus 2 of the following:
In order to perform the pathergy test, a previously normal patch of skin must be stimulated with a needle, and the inflammatory reaction noted above in the "Features of BD" section must be seen. In Middle Eastern populations, where pathergy is a far more frequent finding, this test has significantly higher reliability. Biopsies of the affected areas, dye studies, or examinations of the arteries or veins may sometimes help doctors make the diagnosis of BD, but most of the time, any additional tests just serve to support the above-mentioned criteria.
(See “Medications” section for further details) The broad spectrum of findings in BD makes management of this condition quite challenging. Depending on the symptom presentation of BD, various specialists may need to be involved in treating the patient, including regular eye exams, as mentioned above, to prevent potential permanent visual loss.
Topical steroid preparations, non-steroidal anti-inflammatory drugs (NSAIDs) like ibuprofen (Motrin) or naproxen (Naprosyn), antihistamines like diphenhydramine (Benadryl), colchicine, and dapsone can all be used to treat milder mucous membrane as well as cutaneous lesions, including oral and genital ulcers. Colchicine, a drug that is frequently used for the condition, may lessen oral and genital lesions' frequency and/or severity. The main adverse effects of colchicine are diarrhoea, nausea, and in rare cases, suppression of white blood cell numbers at higher doses. Dapsone, a drug that was initially created to treat leprosy, may be very effective in treating skin lesions along with oral or vaginal ulcers.
Before beginning treatment with dapsone, patients should be tested for a G6PD enzyme deficiency since those who lack it undergo red blood cell damage from the medication. However, the majority of patients experience minimal severe adverse effects from these drugs.
Thalidomide, methotrexate (MTX), and/or a modest dose of prednisone or other corticosteroid medications may be needed to treat more severe mucocutaneous lesions that are refractory to the aforementioned treatments. Thalidomide was removed from the market years ago due to the prevalence of serious birth abnormalities in children born to women using this medication. It is now only available by special request in the United States. The ideal candidates to acquire thalidomide are men or women who are not capable of having children.
The other significant side impact of thalidomide that necessitates regular monitoring is mild nerve damage. The immune system is suppressed, liver enzymes are elevated, and white blood cell counts are decreased as side effects of MTX. As mentioned in other sections, it is important to consider a patient's risk factors before starting therapy with corticosteroid medicine because these adverse effects can include weight gain, decreased bone density and strength, blood sugar rise, cataracts, and immune system suppression.
Patients need more intensive immunosuppressive treatment if their condition affects important organs like the eyes, heart, lungs, or central nervous system. For more severe disease, steroids may need to be begun at larger doses and given alone or in conjunction with other medications. Azathioprine (Imuran), cyclosporine (Neoral), cyclophosphamide (Cytoxan), and chlorambucil are possible further immunosuppressive drugs (Leukeran). All of these medications have had the potential to reduce blood levels and make patients more prone to infection. Azathioprine may also increase liver enzyme levels, cyclosporine may harm renal function, and cyclophosphamide, if administered without enough fluids, may irritate and occasionally cause bleeding in the bladder.
Some people with BD may benefit from the anti-viral properties of the injectable drug interferon (Roferon). Although this medicine alters the inflammatory response, it does not significantly suppress the immune system.
Interferon- side effects include a decrease of the seizure threshold and fever or flu-like symptoms. Initial results from the use of tumour necrosis factor (TNF) antagonists for rheumatoid arthritis, such as etanercept (Enbrel), infliximab (Remicade), & adalimumab (Humira), for the treatment of BD are positive.
If you’re searching for a Behçet’s disease specialist near you, consider these steps:
Genetic factors, such as the HLA-B51 genetic marker, are thought to be involved in BD. Research continues into the Behçet's disease market and potential treatments that target these genetic predispositions.
Given the complexity of Behçet's Disease, effective management requires collaboration with healthcare professionals familiar with the condition. Early diagnosis and tailored treatment significantly improve long-term outcomes. If you suspect you have BD or are experiencing related symptoms, consult a qualified Behçet’s disease specialist in Scottsdale to discuss your options. Regular monitoring and a comprehensive treatment plan are crucial for managing this challenging condition.
If you need assistance finding a Behçet's syndrome specialist near you, do not hesitate to reach out to local experts who can provide the guidance and care you need.
