Schnitzler's Syndrome: A Diagnostic Consideration in Evaluating the Constellation of Monoclonal Gammopathy and Chronic Urticaria.

Schnitzler's syndrome is a rare clinical entity characterized by intermittent, non-pruritic urticarial rash, fevers, arthralgias, myalgias and monoclonal gammopathy, most commonly of the immunoglobulin M (IgM) subtype. Schnitzler's syndrome should be considered in the differential diagnosis of fever of unknown origin. We report a case of a 56-year-old healthy Caucasian female, who initially presented to the primary care physician's office with complaints of severe generalized fatigue and myalgias involving thighs and calves. Patient subsequently underwent extensive rheumatologic workup, and was treated with multiple courses of steroids with temporary resolution of symptoms. During the course of her workup she was found to have IgM kappa monoclonal gammopathy, and was referred to hematology for further evaluation. The constellation findings of fever, arthralgias, chronic intermittent non-pruritic urticaria, myalgias, and a negative rheumatologic workup in the presence of IgM monoclonal gammopathy raised the suspicion of Schnitzler's syndrome. Following completion of additional workup, she was started on anakinra 100 mg daily with prompt resolution of her symptoms. Due to the rarity of the disease, the diagnosis of Schnitzler's syndrome is often delayed, with an average time to diagnosis being approximately 5 years. The symptoms in most cases can be debilitating and add to significant morbidity as noted in our patient, who required bilateral hip arthroplasty at a much younger age than expected. Published reports discuss the poor quality of life associated with the delayed diagnosis and unawareness of potential end organ damage. With our case report we like to highlight the disease characteristics for an early identification to prevent further organ damage believed to be from chronic inflammation. Early diagnosis and treatment with agents such as interleukin-1 (IL-1) inhibitors can promptly provide symptomatic relief, reduce inflammation and prevent organ damage.

Prevalence and Risk Factors Associated With Hypertension in von Willebrand Disease.

BACKGROUND: von Willebrand factor (VWF) is a biomarker for endothelial damage. Increased VWF levels are observed in hypertension (HTN) and disorders of endothelial dysfunction, for example, atherosclerotic heart disease (ASHD) and diabetes. Whether low VWF protects against HTN is unknown. METHODS: To determine prevalence and risk factors for HTN in patients with von Willebrand disease (VWD), we conducted a cross-sectional analysis of discharge data from the National Inpatient Sample, 2009 to 2011. Group comparisons were performed by Rao-Scott χ2 test. Odds of HTN and HTN outcomes in VWD were estimated by weighted multivariable logistic regression. RESULTS: The prevalence of hypertension in patients with VWD (N = 7556), 37.35%, was significantly lower than that in non-VWD patients (N = 19 918 970), 49.40%, P < .0001. Hypertension risk factors (hyperlipidemia, diabetes, smoking, hepatitis C, and HIV) and HTN outcomes (ASHD, myocardial infarction [MI], ischemic stroke, and renal failure) were less common in patients with VWD than in non-VWD patients, all P ≤ .0001. Patients with VWD were younger, 49.67 versus 57.30 years, Caucasian, 82.23% versus 68.35%, and female, 75.44% versus 59.61%, P < .0001. Patients with HTN were older, 67.55 versus 47.29 years, male, 45.99% versus 34.90%, and had more HTN risk factors and HTN outcomes than those without HTN, all P < .0001, including male and female subgroups, each P < .0001. The unadjusted odds of HTN in patients with VWD (odds ratio [OR] = 0.611, P < .0001) and of HTN outcomes in patients with VWD (ASHD, OR = 0.509; MI, OR = 0.422; ischemic stroke, OR = 0.521; renal failure, OR = 0.420, all P < .0001) became insignificant after adjustment for HTN risk factors plus demographics (age/race/gender), OR = 1.035, P = .260. CONCLUSION: The risk of HTN is reduced in patients with VWD, but not after adjustment for HTN risk factors plus demographics, as patients with VWD not having HTN are also typically young, Caucasian, and female.

Prevalence and Risk Factors Associated With Hypertension in Hemophilia: Cross-Sectional Analysis of a National Discharge Register.

INTRODUCTION: Improved life expectancy of persons with hemophilia (PWHs) has led to a greater interest in the role of age-related chronic diseases, such as hypertension, in this cohort. Several observational studies have reported an increased prevalence of hypertension in PWHs; however, this has not been assessed using a large, national database in the United States. AIMS: We hypothesized the prevalence of hypertension is increased in PWHs and compared the prevalence of hypertension and associated risk factors among patients with and without hemophilia. METHODS: A cross-sectional analysis was performed using discharge data among adult males from the National Inpatient Sample over the 3-year period, 2009 to 2011. Hypertension was compared across groups using Rao-Scott χ2 test. Multivariable logistic regression was used to estimate the odds of hypertension in patients with hemophilia after adjustment for hypertension-associated risk factors. RESULTS: The prevalence of hypertension in patients with hemophilia was less than the prevalence of hypertension in patients without hemophilia (39.5% vs 56.3%, P < .001). Hemophilia was associated with a decreased odds of hypertension after adjusting for associated risk factors (odds ratio: 0.87; 95% confidence interval: 0.81-0.94). CONCLUSION: In contrast to the findings of several other recent studies, we report a decreased prevalence of hypertension in PWHs. The discrepancy among the reported prevalence of hypertension in our study and several others highlights the potential biases inherent to retrospective and cross-sectional studies and underscores the need for well-designed prospective studies to determine the true incidence of hypertension in PWHs, which may lie somewhere in between our findings and the findings of others.

A rare case of infectious mononucleosis complicated by guillain-barre syndrome.

Infectious mononucleosis is a clinical syndrome characterized by fever, lymphadenopathy and pharyngitis. Neurologic complications of infectious mononucleosis, such as the development of Guillain-Barre syndrome, have been rarely reported and usually present late in the course of the disease. We describe a case of a 29 year old male with no significant past medical history who was diagnosed with Guillain-Barre syndrome following an infection with Epstein-Barr virus associated infectious mononucleosis. Supportive treatment resulted in full recovery.

Multiple pulmonary nodules: a complex case of Wegener's granulomatosis.

Wegener's granulomatosis is a granulomatous vasculitis that can present with a wide spectrum of clinical manifestations. This disease entity predominantly affects the respiratory tract and the kidneys. Two forms of Wegener's granulomatosis have been recognized: systemic and limited. It has not been established if the two forms represent separate disease entities or different stages of the same condition. In the limited form of Wegener's granulomatosis there is no immediate threat to the function of vital organs and there is no evidence of glomerulonephritis. Environmental factors that could serve as triggers for the activation of Wegener's granulomatosis have not been clearly defined. We report a case of a 78-year old male who was found to have bilateral pulmonary nodules on pre-operative chest X-ray and was diagnosed with the limited form of Wegener's granulomatosis. The patient developed Clostridium difficile infection, and shortly after that active glomerulonephritis, a manifestation of systemic Wegener's granulomatosis.

A rare case of spinal dural arteriovenous fistula.

Spinal dural arteriovenous fistula (SDAVF) is a rare vascular malformation of the spine. Only a limited number of cases of SDAVF have been reported in the current literature. We describe the case of a 74 year old male who presented with gradually progressive bilateral lower extremity weakness and bladder dysfunction and was subsequently diagnosed with SDAVF affecting both the thoracic and lumbar spine. The patient later underwent embolization with some improvement in his neurologic symptoms.

Deep vein thrombosis, ecythyma gangrenosum and heparin-induced thrombocytopenia occurring in a man with a heterozygous Factor V Leiden mutation.

Skin necrosis and limb gangrene are occasional thrombotic manifestations of anticoagulation therapy. We report a man heterozygous for the Factor V Leiden (FVL) mutation, and with a history of recurrent deep venous thrombosis, who initially presented with a necrotic skin lesion of the right flank while on warfarin therapy with a therapeutic international normalized ratio. Warfarin was discontinued and he received intravenous heparin. Thereafter he developed thrombocytopenia and pedal erythema and was diagnosed with heparin-induced thrombocytopenia (HIT). Heparin was replaced with argatroban. He ultimately underwent bilateral below-knee amputations for the thrombotic complications of the HIT. The initial necrotic lesion healed with antibiotics and wound care. Pathologic examination of multiple biopsy specimens revealed two separate lesions. One was necrotic tissue infiltrated with methicillin resistant Staphylococcus aureus having features of ecthyma gangrenosum. The second showed thrombotic changes consistent with HIT. The case illustrates the differential diagnosis of skin necrosis and limb gangrene in patients on warfarin and heparin, and also the clinical complexities that can occur in a FVL heterozygote.

A case of chronic myelogenous leukemia in pregnancy characterized by a complex translocation t(9;22;11)(q34;q11.2;q13).

The management of chronic myelogenous leukemia during pregnancy requires balancing the well-being of the mother with that of the fetus. We report a case of a 26-year-old lady who was diagnosed with chronic myelogenous leukemia (CML) at 15 weeks gestation and who had an atypical chromosome t(9;22;11) (q34;q11.2;q13) translocation. She was observed through the remainder of the pregnancy and the disease remained stable; she delivered a normal boy. Treatment with imatinib mesylate was initiated shortly after delivery and she went into molecular complete remission. We discuss the course of the disease and suggest guidelines for managing pregnancy with respect to the currently available agents imatinib, dasatinib and nilotinib.

The Evolution in the Management of Gastric Lymphoma.

The management of gastric lymphoma is a rapidly changing field. The classification and staging of lymphomas have been revised in the past two decades, reflecting diagnostic advances that include the use of immunohistochemical stains and cell-surface markers. Furthermore, the use of CT scanning and endoscopic ultrasound has revolutionized the non-operative diagnostic modalities available. Despite these advances, the future of gastric lymphoma research lies in the development of therapeutic regimens.