The Long-term Outcomes after VAD plus SCT Therapy in a Patient with AL Amyloidosis and Severe Factor X Deficiency

Area of Science:

• Nephrology
• Hematology
• Oncology

Background:

• Primary amyloid light chain (AL) amyloidosis is a rare plasma cell disorder characterized by the deposition of misfolded immunoglobulin light chains in organs.
• Factor X deficiency can be acquired in AL amyloidosis due to light chain binding to the coagulation factor.

Observation:

• A 55-year-old male presented with significant proteinuria and lambda-type Bence-Jones protein (BJP), indicative of AL amyloidosis.
• The patient was also diagnosed with acquired factor X deficiency, complicating his clinical presentation.

Findings:

• Treatment with high-dose melphalan and autologous stem cell transplantation led to normalization of proteinuria and urinary BJP within three years.
• Factor X activity improved to 105% post-treatment. Renal biopsies showed no amyloid progression at 5 years but a slight increase at 11 years.

Implications:

• High-dose melphalan with stem cell transplantation offers a viable therapeutic strategy for AL amyloidosis with acquired factor X deficiency, improving patient prognosis.
• Long-term surveillance is crucial, as amyloid deposition may show a slow increase even after initial treatment success, indicating potential limitations of the current therapeutic approach.