1326 results
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm
 • Polycythemia vera → Blood JAK2 mutation screening
vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation ... cytogenetics #hematology
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Clinical Syndrome:
 • Common Clinical Features: alveolitis, ear and
vasculitis • Hematologic ... criteria for 1) hematologic ... Features: • somatic mutations ... ubiquitylation • mutations ... Autoinflammatory #Somatic #rheumatology
Polycythemia Vera 
• A clonal proliferation of myeloid cells 
• Increased RBC mass, JAK2 mutation 
•
RBC mass, JAK2 mutation ... WHO #Criteria #Hematology
Venous Thrombosis vs Arterial Thrombosis - Differential Diagnosis Framework

VENOUS THROMBOSIS

 • Acquired Risk Factors:
	- >48 hours
Factor V Leiden mutation ... Prothrombin gene mutation ... pathophysiology #hematology
Essential Thrombocythemia (ET)
ET is a chronic myeloproliferative neoplasm. Most cases are related to mutations that affect
are related to mutations ... ET-associated mutation ... Thrombocythemia #ET #hematology ... diagnosis #management #hematology
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
HLH-associated mutations ... management #treatment #hematology
Inherited Qualitative Platelet Defects
Bernard-Soulier Syndrome
 • Defect of adhesion due to a lack of GP Ib/IX/V
mobility due to mutation ... differential #diagnosis #hematology
Clinical Classification of Pulmonary Hypertension

1. Pulmonary arterial hypertension from pulmonary vasculopathy
Idiopathic pulmonary arterial hypertension
Heritable gene mutations
Heritable gene mutations ... multifactorial mechanisms Hematologic
Polycythemia Vera (PV) - Diagnosis and Management Summary
Diagnostic Criteria:
 • Elevated hemoglobin and/or hematocrit AND
 •
growth AND • JAK2 mutation ... Summary #treatment #hematology
Polycythemia - Differential Diagnosis Algorithm
Polycythemia itself isn’t a diagnosis. Like many things, it is a condition
Better call hematology ... Typical issue: mutations ... Algorithm #workup #hematology