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.

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.

The history and evolution of the clinical effectiveness of haemophilia type a treatment: a systematic review.

First evidence of cases of haemophilia dates from ancient Egypt, but it was when Queen Victoria from England in the 19th century transmitted this illness to her descendants, when it became known as the "royal disease". Last decades of the 20th century account for major discoveries that improved the life expectancy and quality of life of these patients. The history and evolution of haemophilia healthcare counts ups and downs. The introduction of prophylactic schemes during the 1970s have proved to be more effective that the classic on-demand replacement of clotting factors, nevertheless many patients managed with frequent plasma transfusions or derived products became infected with the Human Immunodeficiency Virus (HIV) and Hepatitis C virus during the 1980s and 1990s. Recombinant factor VIII inception has decreased the risk of blood borne infections and restored back longer life expectancies. Main concerns for haemophilia healthcare are shifting from the pure clinical aspects to the economic considerations of long-term replacement therapy. Nowadays researchers' attention has been placed on the future costs and cost-effectiveness of costly long-term treatment. Equity considerations are relevant as well, and alternative options for less affluent countries are under the scope of further research. The aim of this review was to assess the evidence of different treatment options for haemophilia type A over the past four decades, focusing on the most important technological advances that have influenced the natural course of this "royal disease".