Description and Clinical Management of Patients With Glanzmann's Thrombasthenia in a University Hospital, a Referral Center Specialized in Hemostasis, in Bogotá, Colombia.

Introduction Glanzmann's thrombasthenia (GT) is an autosomal recessive disorder of platelets caused by a deficiency in the glycoprotein IIb-IIIa. Bleeding from the skin, mucous membranes, and ecchymosis are symptoms manifested starting in early childhood. There may also be major bleeding conditions as a result of surgical procedures or trauma. The treatment is based on platelet transfusions, antifibrinolytic agents, and recombinant activated factor VII (rFVIIa). Objective To describe the demographic and clinical characteristics as well as the main treatment strategies used during bleeding events or procedures for patients diagnosed with GT that required inpatient attention at a university hospital, a referral center specialized in hemostasis, in the city of Bogota. Materials and methods A descriptive retrospective cohort study was done over a period of 10 years that included nine patients over 18 years of age diagnosed with GT. Results A total of 34 admissions were reported, 23 due to bleeding and 11 for scheduled surgery. Some of the admissions for bleeding (38%) (n=13) required surgical procedures. Overall, 23 surgical procedures were done, six of which were classified as major. Seventy-seven percent of the patients were women with a median age of 37. Their most common symptoms were mucosal and genitourinary bleeding. The use of antifibrinolytics was registered in 28 events, followed by the use of platelet transfusion in 19, and the use of rFVIIa in 17. The average hospital stay was eight days. Conclusion The characteristics registered and the treatments established for this cohort of Colombian patients with GT are similar to those reported in other hospitals around the world. GT presents diagnostic and therapeutic challenges and, therefore, acquiring more knowledge about this pathology is needed within this context.

Cost of Patients With Hemophilia A and High-Titer Inhibitors in Colombia.

BACKGROUND: In Colombia, hemophilia is considered a high-cost disease, and hemophilia A with high-titer inhibitors may be responsible for a significant economic pressure on the Colombian health system. OBJECTIVES: To estimate the direct cost of care for patients with hemophilia A with high-titer inhibitors in Colombia, from the perspective of the health system. METHODS: A cost-of-illness study was carried out using standard case methodology, which was designed based on literature review and validation by expert consensus. Scenarios were established for adults and children, including cases of prophylaxis, immune tolerance induction, bleeding, and surgery. The frequencies were taken from the official report for Colombia, issued by the High-Cost Account 2017 (reported 2018). The prices were obtained from the list of regulated medicines in the country. The cost estimate is presented with a range of values by weight (between 10 kg and 90 kg). RESULTS: The total estimated cost per year for Colombia was US $44 905 252 (between US $32 260 497 and US $58 202 393). The average cost per year calculated for a patient was US $498 947 (between US $358 450 and US $646 693). A total of 99.8% of the estimated cost was directly related to the cost of the coagulation factors and bypassing agents. CONCLUSIONS: Hemophilia A with high-titer inhibitors is a disease that generates significant pressure on the Colombian health system, mainly linked to the cost of factors and bypassing agents.

Niemann-Pick Disease: An Approach for Diagnosis in Adulthood.

Niemann-Pick (NP) disease is a rare, autosomal recessive disorder characterized by visceromegaly and neurological alterations due to the excessive storage of lipids, sphingomyelin, and cholesterol. It commonly affects the child population, and only 6% of it occurs in the adult population. Type A is classified as the acute form, type B is the latest and with the best prognosis, and type C is characterized by neurological alteration. The diagnosis is based on enzymatic tests and genetic sequencing, with the latter being the diagnostic confirmation test. No specific treatment exists for this entity, although some patients with NPC type C may benefit from pharmacological treatment with miglustat. The objective of this paper is to describe the clinical characteristics of a grown patient with Niemann-Pick diagnosis type B. This article reports the case of a 55-year-old adult patient with a three-year clinical history consisting of splenomegaly and hematological disorders, without neurological symptoms ruling out frequent pathologies. Type B NP disease is diagnosed by a mutation in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. The patient was receiving multidisciplinary support treatment. Although NP disease is a rare disease according to the literature, it is important to consider this group of disorders as a differential diagnosis, when other more common pathologies have been ruled out in patients with isolated splenomegaly and thrombocytopenia.

Guía basada en la evidencia para el manejo perioperatorio de la anticoagulación oral con warfarina en pacientes con alto riesgo embólico que serán llevados a implante de dispositivos de estimulación cardiaca / Evidence-based guidelines for the perioperative management of oral anticoagulation with warfarin in patients scheduled for implantation of a cardiac electronic device

Introducción: El manejo perioperatorio de la anticoagulación crónica representa dificultad para los médicos que realizan implantes de dispositivos de estimulación cardíaca, quienes utilizan la terapia puente con heparinas con la intención de disminuir el riesgo de sangrado. Sin embargo, este tratamiento es controversial. Objetivo: Generar recomendaciones basadas en evidencia sobre el tratamiento perioperatorio de la anticoagulación de los pacientes con riesgo embólico moderado y alto, que requieren anticoagulación oral con warfarina y serán llevados a implante de dispositivos de estimulación cardíaca. Métodos: Se realizó una búsqueda de la literatura para identificar guías de práctica clínica basadas en evidencia, las cuales se calificaron con la herramienta AGREE II. Se actualizó la evidencia desde el 1 de enero de 2009 hasta el 30 de noviembre de 2013, incluidas revisiones sistemáticas y experimentos clínicos. Los estudios se calificaron con los instrumentos GRADE y SIGN. Se generaron recomendaciones con metodología GRADE, llevadas a consenso formal de expertos. Resultados: Las guías SIGN y CHEST tuvieron la mejor calificación con AGREE II. Con la nueva evidencia disponible proveniente de tres revisiones sistemáticas y dos experimentos clínicos, se generó recomendación fuerte a favor de continuar la anticoagulación oral con warfarina durante el perioperatorio de implante de dispositivos de estimulación cardíaca en pacientes con riesgo embólico moderado y alto. Conclusiones: A partir de la nueva evidencia cambia la recomendación propuesta por las guías SIGN y CHEST. La alternativa de continuar la terapia con warfarina a cambio de realizar terapia puente, debe considerarse en la práctica clínica.

Introduction: The perioperative management of chronic anticoagulation concerns all physicians involved in the implantation of cardiac electronic devices (either pacemakers and cardioverter-defibrillators). Switching from warfarin to low molecular weight heparins (LMWH) has been performed to reduce the risk of bleeding. However, this approach has been shown to be controversial. Objective: To generate evidence-based recommendations on the perioperative management of oral anticoagulation with warfarin in patients who will undergo the implantation of a cardiac electronic device. Methods: A literature search was performed to identify evidence-based clinical practice guidelines, which were assessed using the AGREE II instrument. The guidelines were updated with systematic reviews and randomized clinical trials published from February 2009 to November 2013 comparing the continuation of warfarin versus switching to a LMWH or withholding warfarin. These studies were analyzed using the SIGN and GRADE scales to assess methodological quality. Recommendations were put forward through an expert panel. Results: The guidelines with highest methodological quality were the SIGN (Scottish Intercollegiate Guidelines Network) guideline published in June 2013 and the CHEST guideline published in February 2012. The update included three systematic reviews and two randomized clinical trials. The continuation of warfarin for the perioperative management of implantable cardiac electronic devices in patients with moderate and high risk is recommended. Conclusion: Based on the new evidence changes the recommendation given by the CHEST SIGN and guides. The alternative of continued therapy with warfarin in exchange for performing therapy bridge, should be considered in clinical practice.