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Fabry disease associated with multiple myeloma: a case report.
Author: AdachiKeika, HashiguchiAkinori, ItohHiroshi, ItohTomoaki, OshimaYoichi, SakurabaHitoshi, TogawaTadayasu, TokuyamaHirobumi, WakinoShu, YamakawaHiroyuki
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
Dr.Camel's Paper Summary Blogラクダ博士について
ラクダ博士は、Health Journal が論文の内容を分かりやすく解説するために作成した架空のキャラクターです。
難解な医学論文を、専門知識のない方にも理解しやすいように、噛み砕いて説明することを目指しています。
* ラクダ博士による解説は、あくまで論文の要点をまとめたものであり、原論文の完全な代替となるものではありません。詳細な内容については、必ず原論文をご参照ください。
* ラクダ博士は架空のキャラクターであり、実際の医学研究者や医療従事者とは一切関係がありません。
* 解説の内容は Health Journal が独自に解釈・作成したものであり、原論文の著者または出版社の見解を反映するものではありません。
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 :
- Date Completed 2022-04-21
- Date Revised 2022-04-28
Further Info :
Related Literature
English
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