Harigane Y, Morimoto I, Suzuki O, Temmoku J, Sakamoto T, Nakamura K, Machii K, Miyata M. Enzyme replacement therapy in two patients with classic Fabry disease from the same family tree: Two case reports. World J Clin Cases 2023; 11(15): 3542-3551 [PMID: 37383915 DOI: 10.12998/wjcc.v11.i15.3542]
Corresponding Author of This Article
Masayuki Miyata, FACP, MD, PhD, Doctor, Center of Internal Medicine for Rheumatology and Collagen Disease, Fukushima Red Cross Hospital, 7-7 Yashima-cho, Fukushima 960-8530, Japan. metm@nifty.com
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Yuki Harigane, Department of Urology, Fukushima Medical University, Fukushima 960-1295, Japan
Issei Morimoto, Otsuki Sleep Clinic, Fukushima 960-8044, Japan
O Suzuki, Department of Diagnostic Pathology, Fukushima Medical University, Fukushima 960-1295, Japan
Jumpei Temmoku, Masayuki Miyata, Center of Internal Medicine for Rheumatology and Collagen Disease, Fukushima Red Cross Hospital, Fukushima 960-8530, Japan
Takayuki Sakamoto, Department of Cardiology, Fukushima Red Cross Hospital, Fukushima 960-8530, Japan
Kohichiro Nakamura, Department of Neurology, Fukushima Red Cross Hospital, Fukushima 960-8530, Japan
Kazuo Machii, Machii Cardiology and Internal Medicine Clinic, Fukushima 960-8530, Japan
Author contributions: Harigane Y and Miyata M conceived the idea of the study; Suzuki O, Sakamoto T, and Nakamura K collected the necessary data; all authors were involved in critical revision of intellectual content in the manuscript draft; all authors approved the final version of the manuscript to be published.
Supported bythe Red Cross Hospital Research and Training Fund, Fukushima R.C. Hosp. No. 57.
Informed consent statement: Written informed consent was obtained from both patients in this report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Masayuki Miyata, FACP, MD, PhD, Doctor, Center of Internal Medicine for Rheumatology and Collagen Disease, Fukushima Red Cross Hospital, 7-7 Yashima-cho, Fukushima 960-8530, Japan. metm@nifty.com
Received: November 10, 2022 Peer-review started: November 10, 2022 First decision: December 26, 2022 Revised: January 29, 2023 Accepted: April 17, 2023 Article in press: April 17, 2023 Published online: May 26, 2023 Processing time: 196 Days and 2.3 Hours
Abstract
BACKGROUND
The pathophysiology of Fabry disease (FD)-induced progressive vital organ damage is irreversible. Disease progression can be delayed using enzyme replacement therapy (ERT). In patients with classic FD, sporadic accumulation of globotriaosylceramide (GL-3) in the heart and kidney begins in utero; however, until childhood, GL-3 accumulation is mild and reversible and can be restored by ERT. The current consensus is that ERT initiation during early childhood is paramount. Nonetheless, complete recovery of organs in patients with advanced FD is challenging.
CASE SUMMARY
Two related male patients, an uncle (patient 1) and nephew (patient 2), presented with classic FD. Both patients were treated by us. Patient 1 was in his 50s, and ERT was initiated following end-organ damage; this was subsequently ineffective. He developed cerebral infarction and died of sudden cardiac arrest. Patient 2 was in his mid-30s, and ERT was initiated when the patient was diagnosed with FD, during which the damage to vital organs was not overtly apparent. Although he had left ventricular hypertrophy at the beginning of this treatment, the degree of hypertrophy progression was limited to a minimal range after > 18 years of ERT.
CONCLUSION
We obtained discouraging ERT outcomes for older patients but encouraging outcomes for younger adults with classic FD.
Core Tip: Fabry disease (FD) is an inherited metabolic disorder, caused by a genetic mutation or decreased α-galactosidase activity in lysosomes. Enzyme replacement therapy (ERT) is a promising treatment for FD. Few reports have compared the effect of ERT in older adult populations vs. that in populations in their 30s. Here we report the effect of ERT in an older adult and a patient in his mid-30s from the same FD family. We demonstrated that ERT is sufficiently effective for patients in their mid-30s if the major organs such as the brain, heart and kidney are not severely damaged.
