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Published on: June 11, 2019
Paroxysmal Nocturnal Hemoglobinuria Presenting With Progressive Biventricular Thrombi
Jordan S Nunnelee1, Garrett A Weber2, Nicholas P Bergeron3
1Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA, mayo.edu.
This case highlights intracardiac thrombosis in a previously healthy patient with new-onset paroxysmal nocturnal hemoglobinuria (PNH). Early PNH diagnosis and complement inhibition are crucial for managing hemolysis and thrombosis.
Area of Science:
- Hematology
- Cardiology
- Genetics
Background:
- Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal hematopoietic stem cell disorder.
- PNH is characterized by complement-mediated intravascular hemolysis and a high risk of thrombosis.
- Intracardiac thrombosis is an uncommon but serious manifestation of PNH.
Purpose of the Study:
- To report the first case of intracardiac thrombosis in a previously healthy patient with new-onset PNH.
- To emphasize the importance of early PNH diagnosis and prompt management.
- To highlight the role of complement inhibition in preventing thrombotic events.
Main Methods:
- A comprehensive diagnostic workup including laboratory tests, imaging (echocardiogram, cardiac MRI), and bone marrow biopsy.
- Flow cytometry for PNH diagnosis, identifying CD59 and CD157 deficient cells.
- Initiation of anticoagulation and eculizumab therapy for PNH.
Main Results:
- The patient presented with chest pain, elevated cardiac enzymes, and evidence of hemolysis, initially mimicking other conditions.
- Diagnosis of PNH was confirmed via flow cytometry.
- Cardiac MRI revealed intracardiac thrombi and RV myocardial infarction, which significantly resolved after treatment.
- Hemoglobin and hemolysis markers normalized with eculizumab therapy.
Conclusions:
- New-onset PNH can present with rare intracardiac thrombosis in previously healthy individuals.
- Early recognition of PNH and initiation of complement inhibition are critical for reducing morbidity and mortality.
- This case underscores the need for a high index of suspicion for PNH in patients with unexplained thrombosis.
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Venous Thrombosis III: Interprofessional Care

