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Pathology - Thrombotic thrombocytopenic purpura
Definition: A thrombotic microangiopathy resulting from a deficiency of ADAMTS13.
Epidemiology • Uncommon.
Aetiology
Inherited instances result from genetic mutations in ADAMTS13. Sporadic cases result from autoantibodies targeting ADAMTS13.
Pathogenesis ADAMTS13 is a metalloproteinase that cleaves von Willebrand factor (vWF) into smaller fragments.
Deficiency of ADAMTS13 results in the accumulation of ultra-high molecular weight variants of vWF, which adhere to endothelial cells and promote microthrombus development in tiny arteries.
Microthrombi induce organ dysfunction, particularly impacting the brain and kidneys. • Platelets are swiftly depleted in the microthrombi, resulting in thrombocytopenia. Red blood cells traversing the microthrombi are fragmented, resulting in anemia.
Clinical Manifestation • Pyrexia, petechial rash, and hemorrhage. • Neurological manifestations are generally pronounced. • Acute renal failure may also manifest. Hematology • Decreased hemoglobin with normal mean corpuscular volume. •
Reticulocyte count. • Platelet count. • Standard coagulation. Blood film • Anisocytosis of red blood cells. • Notable schistocytes (fragmented erythrocytes).
Prognosis: Survival rates range from 80% to 90% with prompt diagnosis and plasma exchange. Approximately one-third of individuals experience relapses within two years.
Definition: A thrombotic microangiopathy resulting from a deficiency of ADAMTS13.
Epidemiology • Uncommon.
Aetiology
Inherited instances result from genetic mutations in ADAMTS13. Sporadic cases result from autoantibodies targeting ADAMTS13.
Pathogenesis ADAMTS13 is a metalloproteinase that cleaves von Willebrand factor (vWF) into smaller fragments.
Deficiency of ADAMTS13 results in the accumulation of ultra-high molecular weight variants of vWF, which adhere to endothelial cells and promote microthrombus development in tiny arteries.
Microthrombi induce organ dysfunction, particularly impacting the brain and kidneys. • Platelets are swiftly depleted in the microthrombi, resulting in thrombocytopenia. Red blood cells traversing the microthrombi are fragmented, resulting in anemia.
Clinical Manifestation • Pyrexia, petechial rash, and hemorrhage. • Neurological manifestations are generally pronounced. • Acute renal failure may also manifest. Hematology • Decreased hemoglobin with normal mean corpuscular volume. •
Reticulocyte count. • Platelet count. • Standard coagulation. Blood film • Anisocytosis of red blood cells. • Notable schistocytes (fragmented erythrocytes).
Prognosis: Survival rates range from 80% to 90% with prompt diagnosis and plasma exchange. Approximately one-third of individuals experience relapses within two years.
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