Hemophilia
Overview Definition Hemophilias are a group of disorders of secondary hemostasis due to the deficiency of specific clotting factors. Epidemiology About 400 children per year are born with hemophilia in the United States. 3 different types have been described: Etiology Genetic mutation resulting in deficiency of clotting factors: Acquired hemophilia: Pathophysiology Genetics Clotting cascade Clinical […]
Henoch-Schönlein Purpura
Overview Definition Henoch-Schönlein purpura (HSP) is an immunoglobulin A (IgA)-mediated small-vessel vasculitis. Epidemiology Etiology Pathophysiology Clinical Presentation Diagnosis History and physical exam Laboratory workup Laboratory workup is used to rule out differentials and evaluate complications. Biopsy Imaging Imaging is used for complicated presentations. Management Management Prognosis Differential Diagnosis References
Thrombotic Thrombocytopenic Purpura
Overview Definition Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy caused by deficiency of ADAMTS-13, a von Willebrand factor (VWF) cleaving protease. Epidemiology Annual incidence: 3 cases per million in the United States (rare) Woman:man ratio is 2:1. More common in African Americans Affects adults predominantly: Average age: 41 years old Age range: 9–78 years […]
Aplastic Anemia
Epidemiology and Etiology Epidemiology Varying incidence worldwide Incidence in Europe: 2.35 per 1 million Incidence in Asia: 7 per 1 million No sex preference Acquired aplastic anemia (AA): biphasic age distribution → major peak in the teens to twenties; 2nd peak in the elderly Etiology Inherited conditions: Intrinsic defect(s) in hematopoietic stem cells Fanconi anemia: […]
Hereditary Spherocytosis
Epidemiology and Etiology Epidemiology Etiology In HS, gene mutations lead to cytoskeletal protein deficiency: Pathophysiology Clinical Presentation General features Categories Four clinical categories have been established based on hemoglobin (Hb), reticulocyte (retic) count, and bilirubin (bili) level. Diagnosis History and physical exam Initial tests Confirmatory tests Management and Complications Management Complications Differential Diagnosis The differential […]
Neonatal Polycythemia
Overview Definitions Epidemiology Etiology Pathophysiology Clinical Presentation Diagnosis and Management Laboratory studies Imaging studies Management References
Hemolytic Anemia
Epidemiology and Etiology Epidemiology Causes Intravascular hemolysis Extravascular hemolysis Pathophysiology Hemolytic anemia is a normocytic anemia. Clinical Manifestations Diagnostics General Intravascular hemolysis Extravascular hemolysis Treatment Differential Diagnoses