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Rheumatology clinic - Behçet’s syndrome

Consultant rheumatologist, Professor Robert Moots, discusses this case of a 25 year old woman with mouth and genital ulcers

Case

A 25-year-old woman presented to her GP with dyspareunia and dysuria. On questioning, she reported frequent mouth ulcers, sometimes interfering with eating and drinking and a history of an occasional tender ‘lumpy’ red rash on her legs.

On examination, she was apyrexial, and also rather embarrassed. There were a number of deep and very tender genital ulcers around the labia minora, vagina and opening of the urethra, plus additional scars from previous ulceration. Her mouth was full of aphthous-type ulcers, again with additional scars on the inside of her cheeks. Her GP also noted an acneiform rash on her face and back, yet she reported minimal acne as a teenager and was on no medications apart from oral contraceptives. Swabs of the genital ulcers were negative for infection, both viral and bacterial. Her blood tests showed no abnormalities in full blood count, biochemical profile, ESR, CRP and viral serology.

The problem

The most likely cause of genital ulcers in a young person is infection, typically herpes simplex. In this situation, the patient’s tests for infection were negative. It was, of course, possible that the tests were falsely negative, with the virus missed. The patient became very upset during the consultation. She was recently married and had only ever had sex with her husband. If she had herpes, she feared it must have come from him, while he claimed he’d not had other girlfriends - maybe he was unfaithful to her? Is this a case of covert infidelity or something totally different?

The history is very helpful here. Genital ulcers, with mouth ulcers and a history red lumpy skin rash (which would fit the description for erythema nodosum) and unexpected acne is a combination of features that should alert a clinician to the potential diagnosis of Behçet’s syndrome.

The fact that the patient had evidence of scarring from previous ulceration, both in her mouth and genitally, helps the diagnosis further, since ulcers from Behçet’s (as opposed to herpes) often heal with scars and the existence of scars suggests the problem actually started a while ago.

Repeated tests for viral infection were undertaken in a genitourinary medicine clinic but these were, again, fully negative. A diagnosis of Behçet’s syndrome was made.

Features

Behçet’s syndrome1 is wrongly thought to be an irrelevant disease in the UK as it is common in people of Turkish or Mediterranean origin and very rare here. It is therefore prone to being underdiagnosed. However, while certainly rare2, clinical experience is starting to suggest that its prevalence in the UK is actually much higher than previously thought. It can affect almost any part of the body, but typically causes recurrent mouth and genital ulcers, together with other features ranging from skin problems (acne, erythema nodosa or vasculitic rashes), eye problems (typically uveitis or retinal vasculitis) or joint pains and is a cause of much morbidity in affected people.3 The embarrassing nature of genital lesions can delay presentation to a doctor and the high prevalence of mouth ulcers in the general population can often result in the relevance of these being played down. The development of genital ulcers can also cause major issues within relationships, with accusations of infidelity coming from a misunderstanding about their origin. This is even more distressing in the case of a child with Behçet’s syndrome, where the development of genital ulcers may trigger a whole range of child protection issues.

Diagnosis

Behçet’s syndrome is diagnosed with a combination of positive features, with other conditions excluded (table 1).4 Many different diagnostic criteria have been proposed – highlighting the difficulty in understanding this disease – but either way, it is important to consider this diagnosis in situations of recurrent mouth and genital ulcers, with skin rashes, eye problems or other organs involved.

CriterionFeatures

Recurrent oral ulcerations

Minor aphthous, major aphthous or herpetiform ulceration observed by physician or patient, which recurred at least three times in one 12 month period

Plus any two of the following:

Recurrent genital ulceration

Aphthous ulceration or scarring observed by physician or patient

Eye lesion

Anterior uveitis, posterior uveitis, or cells in vitreous on slit lamp examination or retinal vasculitis observed by ophthalmologist

Skin lesions

Erythema nodosum observed by physician or patient, pseudofolliculitis or papulopustular lesions, or acneiform nodules observed by physician

Positive pathergy test

(A simple test where skin is punctured by a sterile needle and examined 1-2 days later for development of a characteristic papule or reaction)

Read by a physician at 24-48 hours.

 

Three or more criteria satisfy criteria for Behcet’s

Table 1 - the International Study Group (ISG) criteria (1990)4

Management

The management of Behçet’s syndrome is best led from secondary care. Recently, three national centres of excellence for the management of Behçet’s syndrome were established in Liverpool (Aintree University Hospital), London (Bart’s and the London Hospital) and Birmingham (City Hospital).5 These centres have devised a national drugs pathway to help guide treatment6, are able to oversee the care of Behçet’s syndrome and hold the funding for biologic therapy in these conditions.

The aim of treating Behçet’s syndrome is to minimise the impact of the disease, inducing and maintaining remission. The lowest doses of the safest drugs are given as required, with intensification of treatment depending upon response and severity. In many situations this may just involve mouth washes for oral ulcers and steroid ointment for genital ulcers or skin problems. If the disease is more extensive, then drugs such as colchicine or azathioprine with, occasionally, oral or parenteral steroids can help. When there is more serious organ involvement (such as the eyes, central nervous system or very refractory disease) treatment can be escalated to include cytotoxic drugs or, more likely today, treatment with biologic drugs such as TNFα inhibitors (typically infliximab) or the interferon, Roferon. In the case of biologics, funding for these drugs is held by the national centres.6

This patient initially responded well to a combination of steroid ointment (betnovate), steroid mouth wash and daily colchicine (500μg twice daily). Over the next year, her disease flared again and she was controlled by azathioprine (2.5mg/kg/day), which allowed her to enjoy full remission and, subsequently, successful pregnancy.

 

References

  1. Behcet H. Uber rezidiverendeaphthose durch ein virus verursachte Geschwure am Mund, am Auge, und an den Genitalien. Dermatol Wochenschr. 1937. 105: 1152-7.
  2. Chamberlain MA. Behçet syndrome in 32 patients in Yorkshire. Ann Rheum Dis. 1977;36:491-499.123
  3. Hart M, Moots RJ. Behcet’s syndrome. BMJ. 2009 Oct 5;339:b3876. doi:10.1136/bmj.b3876.
  4. Criteria for diagnosis of Behçet’s disease. International Study Group for Behçet’s Disease. Lancet. 1990 May 5. 335(8697):1078-80.
  5. http://www.behcets.nhs.uk/liverpool
  6. http://www.behcets.nhs.uk/health-professionals-portal#summary-on-use-of-medication

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