Incidental diagnosis of Fabry disease by detecting mulberry bodies in a Bangladeshi male with infertility and residing in Japan: a case report highlighting clinical and economic challenges

Abstract

Objective: Fabry disease is rarely reported in South Asian countries, except India. Here, we report a case of Fabry disease incidentally discovered in a Bangladeshi male.

Case report: A 31-year-old Bangladeshi male presented to our hospital in Japan for the evaluation of potential male infertility, during which hypospermia and asthenozoospermia were identified. No structural or endocrine abnormalities were observed; however, mulberry bodies were incidentally detected during urine microscopy. Reduced α-galactosidase activity and a known genetic mutation confirmed the diagnosis of Fabry disease. The patient was provided with information regarding Japan’s subsidy program for rare diseases, through which he could access enzyme replacement therapy.

Conclusion: Fabry disease is likely to be underdiagnosed in developing countries because of limited medical resources and awareness. Although early detection has improved in developed countries, high treatment costs remain a challenge. This case highlights the need to balance equitable access to treatment for rare disorders, such as Fabry disease, with the maintenance of a sustainable healthcare system, regardless of the patient’s nationality or socioeconomic status.