FD patients exhibit a broad clinical spectrum and diverse genotypes, and atypical presentations should be closely monitored to enable early diagnosis and treatment, thereby improving prognosis.
The mean age at diagnosis of Fabry disease in this cohort was 43.0 ± 16.7 years, with 4 male and 5 female patients.
Male patients had markedly lower mean α-galactosidase A (α-Gal A) enzyme activity compared to female patients.
Cardiac involvement was the most prevalent clinical manifestation, present in 8 of 9 patients.
Pathogenic or likely pathogenic GLA gene variants were identified in all 9 patients.
Family screening in 3 patients revealed diverse inheritance patterns, including one confirmed de novo mutation.
Renal biopsy in one patient revealed characteristic myeloid bodies and zebra bodies consistent with Fabry disease.
Most patients received agalsidase β enzyme replacement therapy, with one patient developing infusion-associated reactions after 12 infusions.
This research describes 9 patients diagnosed with Fabry disease (FD), a rare inherited metabolic disorder caused by mutations in the GLA gene that lead to the buildup of fatty substances in cells throughout the body. The patients were treated at a hospital in China between 2019 and 2025, and on average were not diagnosed until age 43. The study found that nearly all patients had heart problems (8 out of 9), most had kidney problems (7 out of 9), and about two-thirds had reduced sweating due to nerve involvement. This wide range of symptoms—and the relatively late age of diagnosis—highlights how difficult it can be to recognize Fabry disease, especially when patients don't show the most classic symptoms. Genetic testing revealed a variety of different GLA gene mutations across the 9 patients, with 8 mutations classified as definitively disease-causing and one of uncertain significance. When family members were tested, one mutation turned out to be entirely new (de novo) and not inherited from either parent. Almost all patients were treated with enzyme replacement therapy (agalsidase β), though one patient experienced a reaction to the infusions, and one patient died from cardiac complications during follow-up. This research suggests that Fabry disease has a broad and variable clinical presentation, making early diagnosis challenging but critically important. Because symptoms can be mistaken for other conditions, clinicians should consider Fabry disease even when patients present atypically—for example, with isolated heart or kidney disease without the full classic picture. Earlier diagnosis and treatment may help prevent serious organ damage and improve long-term outcomes for patients with this condition.
He Z, Zhang Y, Chen L, Zhang L, Wang Y, Shi S, et al.. (2026). [Analysis of clinical spectrum and genotype characteristics of 9 cases of Fabry disease].. Zhonghua nei ke za zhi. https://doi.org/10.3760/cma.j.cn112138-20260429-00258