Search

Schnitzler’s Syndrome (SS) is a rare late-onset acquired autoinflammatory disorder which consists of chronic urticaria associated with a monoclonal IgM-kappa gammopathy, arthralgias, skeletal hyperostosis, lymphadenopathy, and recurrent constitutional symptoms. The average age of diagnosis is 51 years with a slight male predominance with a male to female ratio of 1.6. Diagnosis of SS requires the presence of 2 major criteria including chronic urticaria and monoclonal IgM along with at least two of the following minor criteria: recurrent intermittent fevers, bone pain, arthralgias, elevated erythrocyte sedimentation rate (ESR), neutrophilic dermal infiltrate on skin biopsy, and leukocytosis or elevated C-reactive protein (CRP). Early diagnosis and clinical awareness are paramount in SS as it is associated with a 15-20% risk of lymphoproliferative malignancy. The median overall survival is 12.8 years. We present a case of a 39-year-old female with new onset urticaria associated with recurrent fevers and joint pain. Symptoms were refractory to steroids, and high dose antihistamines. Multi-disciplinary evaluation resulted in the ultimate diagnosis of Schnitzler’s Syndrome. The patient was ultimately treated with canakinumab (Il-1 inhibitor), with near resolution of symptoms. This case demonstrates the importance of a broad differential diagnosis and maintaining a high clinical suspicion for rare diseases when presented with a complex form of an otherwise common condition.

Objectives To identify criteria and descriptors used to measure response to treatment and change in disease activity in giant cell arteritis (GCA).Methods A systematic literature review (SLR) to retrieve randomised controlled trials (RCTs) and longitudinal observational studies (LOS). Criteria and descriptors of active disease, remission, response, improvement, worsening and relapse were extracted. RCTs, LOS with >20 subjects, and qualitative research studies were included.Results 10 593 studies were retrieved, of which 116 were included (11 RCTs, 104 LOS, 1 qualitative study). No unified definition of response to therapy was found. Most RCTs used composite endpoints to assess treatment outcomes. Active disease was described in all RCTs and 19% of LOS; and was largely defined by a combination of clinical and laboratory components. Remission was reported in 73% of RCTs and 42% of LOS; It was predominantly defined as the combination of clinical and laboratory components. One LOS reported response with a definition resembling the definition of remission from other studies. Improvement was rarely used as an endpoint and it was mostly a surrogate of remission. No study specifically defined worsening. Relapse was reported in all RCTs and 86% of LOS. It was predominantly defined as the combination of clinical, laboratory and treatment components.Conclusions The results of this SLR demonstrate that definitions of response used in clinical studies of GCA are scant and heterogeneous. RCTs and LOS mainly used remission and relapse as treatment outcomes. The descriptors identified will inform the development of the future European Alliance of Associations for Rheumatology-American College of Rheumatology response criteria for GCA.

Objective Giant cell arteritis (GCA) is a large‐vessel vasculitis that primarily affects the aorta and its branches. Extracranial branches of the carotid artery are frequently affected; however, intracranial involvement in GCA is rare. Methods A retrospective medical record review was performed to identify all patients with intracranial GCA (IC‐GCA) from January 1996 through May 2018. Results Nine patients with IC‐GCA were included (78% male; mean age, 72.1 years [SD: 7.9]). All patients met ACR criteria for GCA. The median time from onset of GCA to intracranial involvement was 0.6 months (interquartile range: 0.1‐5.1). All patients had neurologic symptoms, 89% had an ischemic cerebrovascular event. Transient or permanent vision loss was frequent (56% of patients). IC‐GCA was diagnosed by cranial imaging in all nine patients. Intracranial vasculitis most commonly affected the internal carotid artery (100%), followed by the vertebral artery (67%), posterior cerebral artery (67%), middle cerebral artery (44%), anterior cerebral artery (33%), and posterior inferior cerebral artery (11%). Intracranial vessel stenosis was present in 89%, occlusion in 33%, wall thickening in 33%, and dilation in 11%. All patients received glucocorticoids. Additional therapeutic agents included cyclophosphamide (67%) and tocilizumab (22%). Despite treatment, five patients had rapid deterioration and mortality. Comparing IC‐GCA patient survival to the expected rates from the US population, the standardized mortality ratio (95% CI) for IC‐GCA was 58.1 (18.9‐135.6). Conclusion Although rare, IC‐GCA is associated with significant morbidity and mortality. It occurs predominantly in men and presents with ischemic cerebrovascular events. Current treatment strategies appear to be of limited efficacy for IC‐GCA.

Infiltrative cardiomyopathies include a variety of disorders that lead to myocardial thickening resulting in a constellation of clinical manifestations and eventually heart failure that could be the first clue to reach the diagnosis. Among the more described infiltrative diseases of the heart is amyloid cardiomyopathy. The disease usually presents with subtle, nonspecific symptoms. Herein, we illustrate a case of recurrent syncope as the initial presenting symptom for systemic amyloid with polyneuropathy and cardiomyopathy as a cause of syncope. The article illustrates the role of advanced cardiac imaging in the diagnosis of the disease with a focused literature review. We also highlight the role of early, shared decision-making between patient, family, and medical team in the management of cardiac amyloidosis.