Acquired Factor X Deficiency in Light Chain Amyloidosis: A Report of 2 Korean Cases / 대한진단검사의학회지

Amyloidosis is a heterogeneous group of diseases in which misfolding of extracellular proteins is the pathogenic factor. Light chain amyloidosis (AL) is the most common form of amyloidosis, and the causative proteins in AL are the immunoglobulin light chains produced by clonal plasma cells. Hemorrhagic events, ranging from mild subcutaneous hemorrhage to life-threatening bleeding, account for a significant proportion of morbidities and mortality in AL patients. Deficiency of factor X from deposition into amyloid fibrils has been reported to be the most common acquired factor deficiency in AL. We herein report 2 patients with acquired factor X deficiency in AL. A 55-yr-old woman with AL had a prolonged prothrombin time (PT) and an activated partial thromboplastin time (aPTT) of 2.51 International Normalized Ratio (INR) and 75.1 sec, respectively, which were corrected on mixing with normal plasma. Factor X activity was markedly decreased at 5%. The other patient was a 67-yr-old man with AL with a PT of 1.63 INR and an aPTT of 50.3 sec, which were corrected on mixing with normal plasma. Factor X activity was decreased at 17%. Neither of the patients had apparent hemorrhagic manifestations. Identification of acquired factor deficiency and timely coagulation tests are needed in the diagnostic workup and management in AL.

Acquired Factor X Deficiency in Light Chain Amyloidosis: A Report of 2 Korean Cases / 대한진단검사의학회지

Amyloidosis is a heterogeneous group of diseases in which misfolding of extracellular proteins is the pathogenic factor. Light chain amyloidosis (AL) is the most common form of amyloidosis, and the causative proteins in AL are the immunoglobulin light chains produced by clonal plasma cells. Hemorrhagic events, ranging from mild subcutaneous hemorrhage to life-threatening bleeding, account for a significant proportion of morbidities and mortality in AL patients. Deficiency of factor X from deposition into amyloid fibrils has been reported to be the most common acquired factor deficiency in AL. We herein report 2 patients with acquired factor X deficiency in AL. A 55-yr-old woman with AL had a prolonged prothrombin time (PT) and an activated partial thromboplastin time (aPTT) of 2.51 International Normalized Ratio (INR) and 75.1 sec, respectively, which were corrected on mixing with normal plasma. Factor X activity was markedly decreased at 5%. The other patient was a 67-yr-old man with AL with a PT of 1.63 INR and an aPTT of 50.3 sec, which were corrected on mixing with normal plasma. Factor X activity was decreased at 17%. Neither of the patients had apparent hemorrhagic manifestations. Identification of acquired factor deficiency and timely coagulation tests are needed in the diagnostic workup and management in AL.

Immunoglobulin light chain amyloidosis associated with multiple myeloma in a young patient: a case report / Amiloidosis de cadenas ligeras de asociada con mieloma múltiple en un paciente joven: reporte de un caso

The authors present an uncommon case of systemic amyloidosis associated with multiple myeloma in a 35-year old woman. Systemic amyloidosis commonly presents in association with clonal plasma cell proliferative disorders, and less frequently as secondary or of a hereditary origin. Amyloidosis is usually associated with multiple myeloma in older patients and frequently has an unfavourable prognosis.

Los autores presentan aquí un caso raro de amiloidosis sistémica asociado con mieloma múltiple en una mujer de 35 años de edad. La amiloidosis sistémica normalmente se presenta asociada con desórdenes proliferativos de las células plasmáticas clonales, y con menor frecuencia con origen secundario o hereditario. Amiloidosis se asocia normalmente con el mieloma múltiple en pacientes de mayor edad y frecuentemente tiene una prognosis desfavorable.