Enzyme replacement therapy in two patients with classic Fabry disease from the same family tree: Two case reports

Figure 1 Magnetic resonance angiography and diffusion-weighted magnetic resonance imaging findings of Case 1. A: Magnetic resonance angiography indicated the main branches of the internal carotid artery, including the middle cerebral artery, anterior cerebral artery, and vertebral artery, were tapered or disrupted; B: Diffusion-weighted magnetic resonance imaging indicates left occipital cerebral infarction.

Figure 2 Family tree of both patients. The corresponding number indicates either the current age or the age at which a patient died. This is a part of the family tree, and the entire family tree has been previously published[9]. The mother of patient 2 was not revealed to be a carrier of Fabry disease until two years after the diagnosis of patient 2.

Figure 3 Microscopic examination (A and B) and electron microscopic examination (C) of cardiac muscles on autopsy. A: Histological findings of the autopsy. Hematoxylin-eosin staining (× 100). Marked vacuolation of the cardiac muscles in the left ventricle wall of the heart. This autopsy finding has been previously published[10]; B: Histological findings in autopsy. Elastica-Masson staining (× 100). Cardiac muscles vacuolation and marked interstitial fibrosis in the left ventricular wall of the heart. This autopsy finding of this case has previously been published[10]; C: Electron microscopic findings in autopsy. Many lamellar structures in the cardiac muscles of the left ventricular wall of the heart (× 6000) observed. This autopsy finding has been previously published[10]. Annotation: These pictures were kindly provided by co-author O. Suzuki, who is the first author of reference[10]. These pictures were not published in their study[10], but were taken for the current study.

Figure 4 Findings of magnetic resonance angiography (A) and diffusion-weighted magnetic resonance imaging (B) in Case 2. A: The right vertebral artery is tapered and obstructed (arrow); B: A high-intensity signal is observed in the right medulla oblongata (arrow).

Figure 5 Abdominal angiokeratoma (A) before enzyme replacement therapy and (B) after 16 years of enzyme replacement therapy. A and B: The angiokeratoma observed 16 years following therapy was less visible in (B) than that in (A).

Figure 6 Echocardiography findings of Case 2. A and C: Long-axis image; B and D: Short-axis image; A and B: Images of patient 2 at 39 years of age; C and D Images of patient 2 at 52 years of age. The echocardiographic findings of the left ventricular septum and left ventricular posterior wall thickness of patient 2 are shown at 39 (A and B) and 52 (C and D) years of age. A change suggestive of asymmetric ventricular septal hypertrophy was observed at 39 years of age. There was a minor progression in ventricular hypertrophy in the left ventricular septal thickness and left ventricular posterior wall thickness 13 years following enzyme replacement therapy initiation.

Figure 7 Effects of agalsidase β administration on globotriaosylceramide and anti-galactosidase antibody levels in Case 2. Globotriaosylceramide (GL-3) was sufficiently reduced when 1 mg/kg of agalsidase β was administered; GL-3 increased as agalsidase β dose decreased. α-galactosidase at a dose of 0.2 mg/kg, initiated from 2010 and replaced by agalsidase β in 2017, suppressed GL-3 level within normal limits. GL-3: Globotriaosylceramide.