Fabry disease associated with multiple myeloma: a case report.

Author: AdachiKeika, HashiguchiAkinori, ItohHiroshi, ItohTomoaki, OshimaYoichi, SakurabaHitoshi, TogawaTadayasu, TokuyamaHirobumi, WakinoShu, YamakawaHiroyuki

Paper Details 
Original Abstract of the Article :
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 coex...See full text at original site
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引用元:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8810996/

データ提供:米国国立医学図書館(NLM)

Unraveling the Interplay of Fabry Disease and Multiple Myeloma

The fascinating world of medicine often presents cases where two seemingly unrelated conditions converge, creating a complex diagnostic puzzle. This case report sheds light on the rare coexistence of Fabry disease (FD) and multiple myeloma (MM). The authors meticulously document the case of a 68-year-old woman presenting with a constellation of symptoms, including bone destruction and kidney dysfunction. Through a comprehensive diagnostic process, the patient was found to harbor both FD and MM. This unique case report provides valuable insights into the potential pathogenic relationship between these two conditions.

A Case Study of Coexisting Diseases

This case report highlights the importance of considering rare conditions, even in seemingly straightforward presentations. The patient’s symptoms initially suggested a diagnosis of MM, but further investigation led to the discovery of FD as well. This discovery underscores the need for a thorough diagnostic approach, particularly in patients with multiple organ abnormalities or a family history of genetic disorders.

Expanding Our Understanding of Rare Diseases

The study underscores the importance of early diagnosis and treatment of FD, a genetic disorder with available therapeutic agents that can mitigate its effects. This case report serves as a reminder that the human body is a complex tapestry, and often seemingly unrelated conditions can intertwine in unexpected ways.

Dr.Camel's Conclusion

Much like the desert sands shifting and revealing hidden treasures, this case study illustrates the intricate relationship between Fabry disease and multiple myeloma. This rare case encourages us to expand our understanding of these conditions, leading to more comprehensive and personalized medical care.

Date :
  1. Date Completed 2022-04-21
  2. Date Revised 2022-04-28
Further Info :

Pubmed ID

34529243

DOI: Digital Object Identifier

PMC8810996

Related Literature

SNS
PICO Info
in preparation
Languages

English

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