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Fabry disease associated with multiple myeloma: a case report

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Abstract

Fabry disease (FD) is an X-linked genetic lysosomal disorder caused by alpha-galactosidase A (GLA) deficiency. Multiple myeloma (MM) predominately affects older adults, which ranks as the second commonest hematological malignancy. Their overlap has rarely been reported. We present a case of the coexistence of FD and MM in a patient. We report the case of a 68-year-old woman who was referred to our hospital for the evaluation of thoracic spine tumor with bone destruction. On admission, her serum creatinine (Cr) level was elevated to 12.70 mg/dL from the baseline value of 0.91 mg/dL. Bone marrow aspiration revealed MM. Renal biopsy showed myeloma cast nephropathy, which was the primary cause of acute kidney injury. Renal pathology also showed podocyte swelling and tubule myeloid bodies in a mosaic pattern compatible with female FD. Consequently, the patient was diagnosed as FD based on the germ line mutation in GLA. The patient was treated with bortezomib and dexamethasone therapy, which significantly improved the renal function. This is the second case demonstrating a potential pathogenic relationship between FD and MM. Since FD is one of the few genetic diseases for which there are therapeutic agents with fewer side effects, diagnostic value of FD is high. If an MM patient has multiple organ abnormalities or any familial history, the physician should suspect FD.

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Authors and Affiliations

  1. Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan

    Keika Adachi, Hirobumi Tokuyama, Yoichi Oshima, Tomoaki Itoh, Hiroyuki Yamakawa, Shu Wakino & Hiroshi Itoh

  2. Department of Pathology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan

    Akinori Hashiguchi

  3. Department of Functional Bioanalysis, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan

    Tadayasu Togawa

  4. Department of Clinical Genetics, Meiji Pharmaceutical University, 2-522-1 Noshio, Kiyose, Tokyo, 204-8588, Japan

    Hitoshi Sakuraba

Authors
  1. Keika Adachi
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  2. Hirobumi Tokuyama
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  3. Yoichi Oshima
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  4. Tomoaki Itoh
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  5. Akinori Hashiguchi
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  6. Hiroyuki Yamakawa
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  7. Tadayasu Togawa
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  8. Hitoshi Sakuraba
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  9. Shu Wakino
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  10. Hiroshi Itoh
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Correspondence to Shu Wakino.

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Adachi, K., Tokuyama, H., Oshima, Y. et al. Fabry disease associated with multiple myeloma: a case report. CEN Case Rep 11, 146–153 (2022). https://doi.org/10.1007/s13730-021-00613-x

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  • DOI: https://doi.org/10.1007/s13730-021-00613-x

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