P031 An case of cryofibrinogen associated necrotising cutaneous vasculitis on background of aortitis

Abstract

Abstract Background/Aims Cryofibrinogen is an abnormal protein that forms precipitate in plasma but not in serum. Cryofibrinogenaemia can be detected in healthy individuals and patients with autoimmune diseases, cancer, and infections. Current data suggest that isolated cryofibrinogenaemia can be detected in up to 3% of healthy individuals and it is usually asymptomatic. However, cryofibrinogenaemia can be associated with systemic inflammatory manifestations, of which cutaneous involvement is the most prominent. Methods A 76-year-old male patient presented with acute and progressive necrotising ulcers in the lower limbs along with high inflammatory markers and general decline. He had a background of large vessel vasculitis (aortitis), which was diagnosed with a PET-CT scan three years prior to the current presentation. He was previously treated with oral steroids and eight cycles of cyclophosphamide demonstrating an excellent response with complete resolution of the aortitis on the follow-up PET-CT scan. The patient had remained on maintenance treatment with azathioprine (3mg/kg) as well as therapeutic anticoagulation for atrial fibirillation. Results After thorough investigations for an infective cause and poor response to broad spectrum antibiotics, he was reviewed further for recurrence of large vessel vasculitis. A CT angiogram showed concentric symmetrical soft tissue thickening surrounding the thighs and lower limb arteries without luminal stenosis, suggestive of periarterial inflammation. A further MR angiogram of the aorta did not confirm any evidence of aortic, iliac or visceral artery stenosis. A CT chest/abdomen/pelvis excluded any other pathology or malignancy. Additional investigations showed negative ANA and ENA screen, rheumatoid factor, antiphospholipid antibodies, cryoglobulins, hepatitis virus screen, whilst complement and immunoglobulin levels were normal. However, cryofibrinogen was reported positive and a diagnosis of cryofibrinogen-associated necrotising cutaneous vasculitis was concluded. The patent was started on IV cyclophosphamide (15mg/kg) along with IV methylprednisolone (250mg for the first 3 doses) along with each pulse therapy. After the first two pulses, the patient had a favourable clinical and serological response to the immunosuppressive treatment with improvement in cutaneous lesions and significant reduction in the inflammatory markers. He subsequently underwent an angioplasty for tightly stenotic/occluded tibioperoneal trunk with good recanalisation. Conclusion This is a rare overlap syndrome of new-onset small vessel necrotising cutaneous vasculitis on previous background of large vessel disease (aortitis). In most severe cases with essential cryofibrinogenaemia, the mainstay treatment is with corticosteroids and other immunosuppressive agents in combination with oral anticoagulants and/or low-dose aspirin. Post treatment, the risk of relapse remains high and immunosuppressive therapy may only have a limited impact on the course of thrombotic vasculopathy in the absence of inflammation. More research and longitudinal data are required to optimise treatment protocols and outcomes in patients with cryofibrinogen-associated systemic vasculitis. Disclosure A. Psarras: None. J. David: None. R. Luqmani: None. S. Dubey: Consultancies; Boehringer Ingelheim. Member of speakers’ bureau; Janssen.