Suspected Behçet's Disease with Systemic Manifestations
This young male with recurrent aphthous ulcers, tonsillar congestion, and new-onset labile hypertension most likely has Behçet's disease, and requires immediate serological testing (including antinuclear antibodies, anti-cardiolipin antibodies, and lupus anticoagulant), comprehensive vascular imaging, and urgent rheumatology referral to prevent life-threatening vascular complications.
Primary Diagnostic Consideration
Behçet's disease is the most critical diagnosis to establish or exclude in this clinical scenario. This chronic inflammatory condition characteristically presents with recurrent bipolar aphthosis (oral and genital ulcers) and can involve multiple organ systems including vascular, neurologic, and ocular manifestations 1, 2. The combination of:
- Recurrent aphthous ulcers (the hallmark feature)
- Tonsillar congestion (suggesting pharyngeal/upper respiratory involvement)
- New-onset labile hypertension (indicating possible vascular involvement)
...creates a clinical pattern highly suspicious for systemic vasculitis, particularly Behçet's disease 1, 2.
Critical Vascular Complications Requiring Immediate Evaluation
Labile hypertension in a young male with aphthous ulcers is a red flag for vascular involvement that can be life-threatening. The hypertension may indicate:
- Large vessel vasculitis affecting renal arteries or aorta
- Thrombotic complications (Behçet's can cause both arterial and venous thrombosis)
- Renal artery stenosis from inflammatory arteritis
- Pulmonary arterial hypertension (though less likely given normal basic workup) 3
While your basic laboratory studies (liver function, creatinine, ultrasound, iron studies) are reassuringly normal, these tests do not exclude vascular inflammation or thrombotic disease 3.
Mandatory Immediate Workup
Serological Testing (Highest Priority)
- Antinuclear antibodies (ANA) - Up to 40% of patients with inflammatory conditions have elevated ANA, and this helps differentiate between various systemic inflammatory diseases 3
- Antiphospholipid antibodies, anticardiolipin antibodies, and lupus anticoagulant - Essential for thrombophilia screening in suspected Behçet's disease or systemic lupus erythematosus with vascular involvement 3
- Anti-dsDNA, anti-Ro, anti-centromere antibodies - To evaluate for connective tissue diseases that can present with oral ulcers and hypertension 3
- HIV testing - Required in all patients with recurrent aphthous ulcers, as HIV-associated aphthous ulcers represent an important differential diagnosis 3, 2
- Hepatitis serology - Should be performed if not already done, as hepatitis can be associated with vasculitis 3
Cardiovascular Assessment
- Echocardiography with bubble study - To assess for pulmonary hypertension, cardiac structural abnormalities, and right-to-left shunting 3, 4
- 12-lead ECG - Should be performed at initial encounter to optimize management and assess for cardiac involvement 3
- 24-hour ambulatory blood pressure monitoring - To characterize the pattern and severity of labile hypertension
- NT-proBNP levels - Elevated levels may indicate cardiac strain from pulmonary hypertension or other cardiac involvement 3
Vascular Imaging
- CT angiography of chest, abdomen, and pelvis - To evaluate for large vessel vasculitis, aneurysms, or thrombosis that can occur in Behçet's disease
- Renal artery Doppler ultrasound or CT angiography - To exclude renal artery stenosis as a cause of hypertension in this young patient
Additional Laboratory Studies
- Complete blood count with differential - To assess for neutropenia (cyclic neutropenia can cause recurrent aphthous ulcers) or other hematologic abnormalities 3, 2
- Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) - Markers of systemic inflammation
- Thyroid-stimulating hormone - Thyroid disease should always be considered in cases of abrupt clinical changes 3
- Serum electrolytes including calcium and magnesium - Part of standard evaluation for hypertension 3
Key Differential Diagnoses to Exclude
Systemic Lupus Erythematosus (SLE)
- Can present with oral ulcers, hypertension (from renal involvement), and pharyngitis
- Requires ANA, anti-dsDNA, complement levels (C3, C4), and urinalysis with microscopy 3
Complex Aphthosis Variants
- MAGIC syndrome (Mouth And Genital ulcers with Inflamed Cartilage) - A variant that overlaps with Behçet's disease and relapsing polychondritis 2
- FAPA syndrome (Fever, Aphthosis, Pharyngitis, and Adenitis) - Though typically seen in children, should be considered with pharyngeal involvement 2
Inflammatory Bowel Disease (IBD)
- Crohn's disease and ulcerative colitis can present with oral aphthous ulcers and extraintestinal manifestations
- Consider if patient has any gastrointestinal symptoms (diarrhea, abdominal pain, weight loss) 1, 2
- Fecal calprotectin and colonoscopy may be needed if clinical suspicion exists
Cyclic Neutropenia
- Causes recurrent aphthous ulcers with a predictable cycle (typically every 21 days)
- Serial complete blood counts over several weeks can establish diagnosis 2
HIV-Associated Aphthous Ulcers
- Can present with severe, refractory oral ulcers
- HIV testing is mandatory in all patients with recurrent aphthous stomatitis 3, 2
Critical Clinical Pitfalls to Avoid
Do not dismiss labile hypertension as "white coat hypertension" or stress-related in a young patient with systemic inflammatory signs. This combination demands aggressive investigation for secondary causes, particularly vasculitis 3.
Do not assume normal basic laboratory studies exclude serious systemic disease. Serum creatinine can remain normal even with significant renal artery stenosis if the contralateral kidney compensates, and liver function tests do not assess vascular inflammation 3.
Do not delay rheumatology referral while awaiting test results. Behçet's disease with vascular involvement requires urgent specialist evaluation, as arterial aneurysms can rupture and venous thrombosis can extend 1, 2.
Immediate Management Pending Workup
- Blood pressure control - Initiate antihypertensive therapy (ACE inhibitor or ARB preferred given potential renal involvement) with target BP <130/80 mmHg 3
- Topical corticosteroids - For symptomatic relief of oral ulcers (triamcinolone acetonide 0.1% in orabase applied 2-4 times daily) 5
- Avoid triggers - Counsel patient to avoid hard, acidic, salty foods, sodium lauryl sulfate-containing toothpastes, alcohol, and carbonated drinks 5
- Colchicine consideration - If Behçet's disease is strongly suspected and serologies are pending, colchicine 0.6 mg twice daily can be initiated as it constitutes suitable treatment for most recurrent aphthous stomatitis associated with Behçet's disease 1
Follow-Up Algorithm
If serologies confirm Behçet's disease or other systemic vasculitis:
- Urgent rheumatology consultation for immunosuppressive therapy initiation
- Consider systemic corticosteroids (prednisolone) combined with steroid-sparing agents
- Serial vascular imaging to monitor for aneurysm development or thrombotic complications
- Ophthalmology evaluation (Behçet's can cause vision-threatening uveitis)
If serologies are negative but clinical suspicion remains high:
- Proceed with vascular imaging regardless
- Consider tissue biopsy if accessible lesions are present
- Empiric trial of colchicine is reasonable given its safety profile and efficacy in idiopathic recurrent aphthous stomatitis 1, 5
If all workup is negative: