A case report describing a man who was diagnosed with multiple myeloma and found to be a Gaucher disease carrier highlights the increased risk for cancer, especially multiple myeloma, associated with Gaucher disease.
The case study, “A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma,” was published in Case Reports in Oncological Medicine.
Plasma cells help fight infections by making antibodies that recognize and attack germs. In multiple myeloma, the malignant cells accumulate in the patient’s bone marrow and produce abnormal antibodies that can cause an array of complications including bone and kidney problems.
Gaucher disease patients have been found to be more susceptible to long-term complications or to malignancies, such as multiple myeloma and liver cancer.
Evidence suggests that multiple myeloma is six times more frequent in Gaucher disease patients, but from a clinical point of view, such a diagnosis may not drastically change the management of Gaucher patients. Nonetheless, clinicians should pay attention to warning signs such as abnormal quantities of protein in the urine and uncommon bone lesions.
A 30-year-old man of Jewish heritage with no past medical history went to the Lenox Hill Hospital in New York with abnormal renal function and low red blood cell count (anemia). He had a low hemoglobin concentration, which is consistent with an anemia diagnosis, and high creatinine and uric acid levels, indicating impaired kidney function.
A computed tomography (CT) scan showed the patient had an enlarged spleen (about 5 cm larger than normal) and innumerable bone lesions, mainly in the pelvis.
Blood testing revealed a suspicion for plasma cell myeloma, which was later confirmed by bone marrow biopsy. Genetic testing was positive for a mutation in the GBA gene — the underlying cause of Gaucher disease.
The patient started treatment at an outside institution, and clinicians reported he responded well to therapy. Next, he underwent an autologous stem cell transplant.
Prior to the transplant, the patient was given melphalan, a chemotherapy that is widely used in preparatory regimens for stem cell transplants.
In an autologous transplant, the patient’s own blood stem cells are collected before he begins cancer treatment, because the high-dose treatment kills both the cancer and the blood-producing cells. After that, the previously collected stem cells are put back into the patient’s bloodstream, allowing the bone marrow to produce new (healthy) blood cells.
Following the transplant, his hemoglobin and creatinine levels returned to normal, and he was discharged. The patient was successfully treated and is now in clinical remission.
The association between Gaucher disease and cancer, specifically multiple myeloma, is well-documented. However, there’s not enough data on the association of cancer with GBA mutation carriers.
This patient’s case “should serve to increase awareness of the potential for malignancy, especially hematologic malignancy [blood cancer], in patients who are Gaucher disease carriers,” the researchers concluded.