Fabio Bonilla-Abadía

Direct oral anticoagulants in antiphospholipid syndrome: a real life case series

Aim The aim of this study was to describe a case series of patients with primary or secondary antiphospholipid syndrome (APS) treated with direct oral anticoagulants (DOACs). Patients and methods Clinical charts of eight patients with thrombotic primary or secondary APS treated with direct oral anticoagulants (DOACs) between January 2012 and May 2015 were reviewed. Results The mean age was 45 ± 14.36 (range 27–69 years). Four patients had secondary APS (50%). All patients were initially treated with warfarin by a mean time of 70.87 ± 57.32 months (range 17–153 months). Changes in anticoagulation were defined by recurring thrombosis in five patients (62.5%) and life-threatening bleeding in the other three cases. Seven patients (87.5%) received rivaroxaban treatment and one patient (12.5%) apixaban. The mean follow-up period with DOACs was 19 ± 10.06 months (range 2–36 months). There was no recurrence of thrombosis by the time of data collection. Conclusions Despite not being the standard treatment in APS, we propose DOACs as a rational alternative for the management of patients with this diagnosis. Further interventional clinical studies are necessary for possible standardization of this therapy in APS patients.

Epigenetics changes associated to environmental triggers in autoimmunity.

Abstract Autoimmune diseases (AIDs) are chronic conditions initiated by the loss of immunological tolerance to self-antigens and represent a heterogeneous group of disorders that affect specific target organs or multiple organs in different systems. While the pathogenesis of AID remains unclear, its aetiology is multifunctional and includes a combination of genetic, epigenetic, immunological and environmental factors. In AIDs, several epigenetic mechanisms are defective including DNA demethylation, abnormal chromatin positioning associated with autoantibody production and abnormalities in the expression of RNA interference (RNAi). It is known that environmental factors may interfere with DNA methylation and histone modifications, however, little is known about epigenetic changes derived of regulation of RNAi. An approach to the known environmental factors and the mechanisms that alter the epigenetic regulation in AIDs (with emphasis in systemic lupus erythematosus, the prototype of systemic AID) are showed in this review.

Efficacy and Safety of Anti–interleukin 6 Receptor Monoclonal Antibody (tocilizumab) in Colombian Patients With Takayasu Arteritis

Purpose The aim of this study was to describe the efficacy and safety of anti–interleukin 6 receptor antibody (tocilizumab [TCZ]) in patients with severe or refractory Takayasu arteritis (TA). Methods We describe 8 Colombian patients with severe and/or refractory TA treated with TCZ during a period of at least 9 months. Clinical, radiological, biological, and associated treatments were evaluated before, during, and after TCZ infusions. Results The median age at evaluation was 31 years (12–43 years). All patients were female and experienced clinical and biological improvement, in addition to a corticosteroid-sparing effect from a median dose of 50 mg/d at baseline (30–60 mg/d) to 6.25 mg/d (2.5–10 mg/d) at 9 months. In 4 cases, in which imaging studies were available, an improvement was observed. The median duration of TCZ infusions was 18 months (9–36 months). Major adverse effects related to TCZ were not evidenced during a period of at least 9 months of treatment. One relapse was observed. Tocilizumab was continued in all cases until the last follow-up. Conclusions This study shows a clinical, biological, and radiological response in patients with refractory TA treated with TCZ.

Calcio, canales, señalización intracelular y autoinmunidad

Calcium (Ca²⁺) is an important cation able to function as a second messenger in different cells of the immune system, particularly in B and T lymphocytes, macrophages and mastocytes, among others. Recent discoveries related to the entry of Ca²⁺ through the store-operated calcium entry (SOCE) has opened a new investigation area about the cell destiny regulated by Ca²⁺ especially in B and T lymphocytes. SOCE acts through calcium-release-activated calcium (CRAC) channels. The function of CRAC depends of two recently discovered regulators: the Ca²⁺ sensor in the endoplasmic reticulum or stromal interaction molecule (STIM-1) and one subunit of CRAC channels called Orai1. This review focuses on the role of Ca²⁺ signals in B and T lymphocytes functions, the signalling pathways leading to Ca²⁺ influx, and the relationship between Ca²⁺ signals and autoimmune diseases.

Pneumocystis jirovecii pneumonia in two patients with systemic lupus erythematosus after rituximab therapy

New cases of Pneumocystis jirovecii pneumonia (PJP) have recently been reported in patients with systemic lupus erythematosus (SLE) after rituximab therapy. Several factors may contribute to susceptibility to P. jirovecii infection in this type of patients, including the immunological characteristics of the disease, the mechanisms of rituximab action, environmental factors, and the biological characteristics of the fungus. We report two patients with SLE who developed PJP after rituximab therapy.

Plasmodium vivax cerebral malaria complicated with venous sinus thrombosis in Colombia.

Complicated malaria is usually due to Plasmodium falciparum. Nevertheless, Plasmodium vivax is infrequently related with life-threatening complications. Few cases have been reported of severe Plasmodium vivax infection, and most of them from Southeast Asia and India. We report the first case of cerebral malaria due to Plasmodium vivax in Latin America, complicated with sagittal sinus thrombosis and confirmed by a molecular method.

A rare association of localized scleroderma type morphea, vitiligo, autoimmune hypothyroidism, pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis. Case report

BackgroundThe localized scleroderma (LS) known as morphea, presents a variety of clinical manifestations that can include systemic involvement. Current classification schemes divide morphea into categories based solely on cutaneous morphology, without reference to systemic disease or autoimmune phenomena. This classification is likely incomplete. Autoimmune phenomena such as vitiligo and Hashimoto thyroiditis associated with LS have been reported in some cases suggesting an autoimmune basis. To our knowledge this is the first case of a morphea forming part of a multiple autoimmune syndrome (MAS) and presenting simultaneously with autoimmune thrombocytopenic purpura and central nervous system vasculitis.Case presentationWe report an uncommon case of a white 53 year old female patient with LS as part of a multiple autoimmune syndrome associated with pneumonitis, autoimmune thrombocytopenic purpura and central nervous system vasculitis presenting a favorable response with thrombopoietin receptor agonists, pulses of methylprednisolone and cyclophosphamide.ConclusionIs likely that LS have an autoimmune origin and in this case becomes part of MAS, which consist on the presence of three or more well-defined autoimmune diseases in a single patient.

Acute Generalized Exanthematous Pustulosis due to Tocilizumab in a Rheumatoid Arthritis Patient

We report a female patient with rheumatoid arthritis which was refractory to methotrexate, leflunomide, and anti-TNF therapy. She was treated with anti-IL-6 tocilizumab (TCZ), with an early appearance of sterile pustules on erythematous swollen skin of trunk, back, and abdominal area. The lesions were consistent with the diagnosis of acute drug-related generalized exanthematous pustulosis (AGEP). This adverse event was controlled with medical treatment without requiring removal of TCZ.

Multiple endovascular stent-graft implantations in a patient with aortic thoracic and abdominal aneurysms due Takayasu arteritis.

We report an adult female patient with Takayasu arteritis (TA) receiving conventional medical treatment and anti-TNF therapy, which developed progressive thoracic and abdominal aortic aneurysms. She developed imminent rupture of the thoracic aneurysm and an endovascular stent-graft (EVSG) was emergency implanted and a year after this procedure the abdominal aneurysm increased in size requiring reoperation and placement of another EVSG. Both procedures had a very good outcome. This case shows the effectivity and security of multiple EVSG implantations in multiple aortic aneurisms in patients with TA.

Rituximab for Remission Induction and Maintenance in Refractory Systemic Lupus Erythematosus

Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease with high morbidity if untreated. Sometimes, despite aggressive treatments, the disease remains active with cumulative organic damage. We conducted a retrospective and descriptive observational study of patients with SLE refractory to conventional treatment who were treated with rituximab (RTX) as remission induction therapy and maintenance. There was a significant reduction in the conventional immunosuppressive drug dose and the number of relapses of disease. RTX appeared to be effective and safe for the induction and maintenance of remission in patient with SLE refractory to conventional treatment.