Abstract
Introduction
Lesions of the cervix are not often associated with a rheumatology illness. A cervical mass is often thought to be due to a neoplasm or an infection. Rheumatologists are tasked with unravelling diagnoses in patients with complex multisystem disease. Our patient presented with a cervical mass as part of a chronic multisystem disorder. Behçet’s disease is rare and often presents with varied symptoms managed by multiple specialities. A diagnosis of Behçet’s disease requires a high index of suspicion. The reason for submitting this case is to raise awareness of an atypical presentation of an uncommon, often severe and chronic illness.
Case description
A forty-seven-year-old female of Irish and French descent presented with a six months history of bilateral episcleritis, generalised myalgia, arthralgia (knees, ankles, and elbows), recurrent oral ulceration, and skin rash over her shin, hands and chest, weight loss and fatigue.
Examination revealed slightly red eyes with evidence of erythema nodosum over her shins, hands and chest. She was tender on palpation of her knees, elbows and ankles with no overt synovitis detected. She had no palpable peripheral lymphadenopathy. Cardiovascular and respiratory system examinations were normal.
Initial blood test results showed raised inflammatory markers with CRP-63 (<10), ESR-29. ANA & ANCA negative, Normal C3, C4, ferritin, eosinophil count, creatinine kinase, immunoglobulins. She was HLA B27 and B51 negative. Transthoracic echocardiogram was normal. Chest x-ray showed some left lobar consolidation treated successfully with antibiotics.
She had a CT chest, abdomen and pelvis. The result showed a significant soft tissue mass in her cervix with a 13mm lymph node on the left pelvic sidewall. She was referred urgently to the gynaecology team due to a suspicion of malignancy.
She underwent a colposcopy, EUA with LLETZ loop under anaesthesia which identified a small sessile polyp at the anterior lip of the os and it was excised. Histology showed a benign fibro-glandular inflamed polyp with no cervical intraepithelial neoplasm or cancer. Following this, a repeat vaginal examination identified a new right vaginal wall nodular swelling not noted on the previous examination. MRI of her pelvis revealed a large cervical tumour. She underwent lymphadenectomy. The result of this was negative for high-grade lymphoma, IgG4 and granulomatous disease but suggested a lymphocytic vasculitis. Blood investigations were negative for IgG4, chlamydia, treponema and lyme serology.
She was diagnosed with Behçet’s disease and treated with prednisolone 30mg in the first instance. She is awaiting further review to assess her response to treatment.
Discussion
Behçet’s disease (BD) is a systemic vasculitis of unknown aetiology. Presentation is variable. It follows a remitting and relapsing course. Genetic and environmental factors play a role in its aetiology.
Behçet’s disease is rare in the UK, with an estimated prevalence of 1 in 100,000. Due to this, a delay of at least 6months to diagnosis is not uncommon. It is prevalent in people of Mediterranean, Eastern Asian backgrounds with the highest prevalence in Turkey of 420 in 100,000.
Recurrent aphthous and genital ulceration with uveitis is frequent. Blood vessels of all sizes, joints, skin, gut and nervous system are affected by the disease — early diagnosis with the treatment is required to prevent lasting damage to affected organs. Treatment of Behçet’s syndrome involves a combination of topical and oral steroid, colchicine, and disease-modifying therapy.
This patient presented with episcleritis, erythema nodosum, arthralgia, oral ulceration and genitourinary tract involvement. A possible diagnosis of Behçet’s was entertained after a thorough evaluation by the gynaecology oncology team to exclude malignancy, with a delay of more than six months to diagnosis. Despite features of a multisystem inflammatory process, the initial CT scan finding on the cervix made a neoplastic process an essential differential in her work up.
Oral and genital ulcers are the main diagnostic and classification criteria for Behcet’s disease under the ICBD classification with scores of 2 each while the skin, eye, positive pathergy and vascular lesions each have a score of 1. A score of ≥ 3 suggests the diagnosis. Lesions of the vagina or cervix are uncommon in Behçet’s but recognised. Male patients often have scrotal and penile shaft involvement. As the treatment of Behçet’s disease involves the use of immunosuppressant drugs, the exclusion of a neoplastic process presenting with multisystem involvement is essential.
Key learning points
Behçet’s disease should always be considered in the differential diagnosis of a cervical mass once other common causes including malignancy and infection have been excluded. This should be considered especially in the background of a multi-systemic illness.
As a rheumatologist, dealing with a broad range of systemic illnesses, vasculitis can present in varying and sometimes atypical ways. This can be compounded by the unusual presentation of some cases. One must bear in mind too however that some medical conditions presenting initially with rheumatological symptoms and in fact may be paraneoplastic manifestations of an underlying malignancy. Therefore having a broad differential diagnosis is essential to ensure early diagnosis of other potentially fatal diseases.
Conflicts of interest
The authors have declared no conflicts of interest.
Genital and Oral Microbiome and Behçet’s Disease Activity
