Cerebral Infarction due to Severe ADAMTS-13 Deficiency with Normal Hematological Parameters: A Cause of Cryptogenic
Andrew Matthews1, Jennifer Yui2, Elaine Y Chiang1
1Division of Hematology and Oncology University of Pennsylvania, Philadelphia, PA, USA.
Objectives:
Thrombotic thrombocytopenic purpura (TTP) is a microangiopathy resulting from an inherited or acquired severe deficiency in a disintegrin and metalloproteinase called ADAMTS-13. Acquired or immune TTP is classically described as a pentad of microangiopathic hemolytic anemia (MAHA), thrombocytopenia, fever, renal insufficiency and neurological symptoms. Thrombotic thrombocytopenic purpura has been linked to stroke with the presence of hematologic abnormalities but whether or not severe ADAMTS-13 deficiency can cause stroke without hematological abnormalities is unknown.
Materials And Methods:
As part of routine clinical care, we identified four cases of recurrent stroke attributed to severe deficiency of ADAMTS-13. We also conducted a search of a centralized electronic health record database including all inpatients and outpatient charts at a single academic medical center over the last ten years in an attempt to identify additional cases.
Results:
Here we present four cases of stroke and severe ADAMTS-13 deficiency where stroke episodes occurred without microangiopathic hemolytic anemia or severe thrombocytopenia. These cases show the need to consider severe ADAMTS-13 deficiency in the setting of recurrent cryptogenic stroke in young patients.
Conclusions And Relevance:
TTP directed therapies may be considered for patients with recurrent stroke who have extremely low ADAMTS-13 levels, even when platelet and hemoglobin values are normal.
Insights
Severe ADAMTS-13 deficiency can cause stroke even without typical Thrombotic Thrombocytopenic Purpura (TTP) symptoms like low platelets. This finding suggests considering ADAMTS-13 testing for unexplained recurrent strokes.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Thrombotic Thrombocytopenic Purpura (TTP) is a rare blood disorder caused by severe ADAMTS-13 deficiency.
- TTP classically presents with a pentad including hemolytic anemia, thrombocytopenia, fever, renal, and neurological issues.
- The link between severe ADAMTS-13 deficiency and stroke, especially without typical TTP hematological abnormalities, remains unclear.
Purpose of the Study:
- To investigate the potential of severe ADAMTS-13 deficiency to cause stroke in the absence of characteristic hematological abnormalities.
- To highlight the importance of considering ADAMTS-13 deficiency in patients with recurrent cryptogenic strokes.
Main Methods:
- Retrospective analysis of four cases of recurrent stroke linked to severe ADAMTS-13 deficiency.
- Comprehensive search of electronic health records at an academic medical center over ten years to identify additional cases.
Main Results:
- Four cases of stroke associated with severe ADAMTS-13 deficiency were identified, occurring without microangiopathic hemolytic anemia or significant thrombocytopenia.
- These findings suggest that severe ADAMTS-13 deficiency should be considered in young patients experiencing recurrent cryptogenic strokes.
Conclusions:
- Severe ADAMTS-13 deficiency can manifest as stroke even when platelet and hemoglobin levels are normal.
- Therapeutic strategies for TTP may be beneficial for patients with recurrent strokes and very low ADAMTS-13 levels.
More Related Videos
09:14Pre-Chiasmatic, Single Injection of Autologous Blood to Induce Experimental Subarachnoid Hemorrhage in a Rat Model
Published on: June 18, 2021
09:35A Mouse Model of Hemorrhagic Transformation Induced by Acute Hyperglycemia Combined with Transient Focal Ischemia
Published on: November 15, 2024
Related Concept Videos
01:29Stroke: Introduction and Types
01:15Ischemic Stroke l: Introduction
01:15Ischemic Stroke ll: Pathophysiology
01:17Hemorrhagic Stroke l: Introduction
01:29Hemorrhagic Stroke ll: Pathophysiology
01:26Transient Ischemic Attack l: Introduction