Fabry disease associated with multiple myeloma: a case report
Keika Adachi1, Hirobumi Tokuyama1, Yoichi Oshima1
1Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.
CEN Case Reports
|September 16, 2021
Summary
This case report details a rare coexistence of Fabry disease (FD) and multiple myeloma (MM) in a 68-year-old woman. Early FD diagnosis in MM patients with organ issues can improve outcomes.
Area of Science:
- Nephrology
- Hematology
- Genetics
Background:
- Fabry disease (FD) is a rare X-linked lysosomal disorder due to alpha-galactosidase A (GLA) deficiency.
- Multiple myeloma (MM) is a common hematological malignancy primarily affecting older adults.
- The co-occurrence of FD and MM is exceptionally rare, with limited reported cases.
Observation:
- A 68-year-old woman presented with a thoracic spine tumor and acute kidney injury (AKI).
- Investigations revealed multiple myeloma and myeloma cast nephropathy as the cause of AKI.
- Renal biopsy findings were also consistent with Fabry disease, confirmed by GLA gene mutation.
Findings:
- The patient was diagnosed with both multiple myeloma and Fabry disease.
- Treatment with bortezomib and dexamethasone improved renal function.
- This case supports a potential pathogenic link between FD and MM.
Implications:
- FD is a treatable genetic condition, highlighting the importance of its diagnosis.
- Physicians should consider FD in MM patients presenting with multi-organ abnormalities or family history.
- Prompt FD diagnosis in MM patients may lead to better management and outcomes.
