Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease

Sawada, Jun; Nakagawa, Naoki; Kano, Kohei; Saito, Tsukasa; Katayama, Takayuki; Sawada, Takaaki; Momosaki, Ken; Nakamura, Kimitoshi; Hasebe, Naoyuki

doi:10.2169/internalmedicine.6420-20

Cited by 9 publications

(17 citation statements)

References 47 publications

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“…Figure 1 shows the PRISMA flow chart of the metanalysis. The characteristics of the studies of the metanalysis are shown in Table 1 [6,10,[17][18][19][20][21][22][23][24][25][26]. We collected 12 studies across the metanalysis.…”

Section: Resultsmentioning

confidence: 99%

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Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis

Ortíz,

Solís,

Ali

et al. 2022

Neurology International

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Background: Fabry disease (FD) is the second most common lysosomal storage disorder. This disorder affects multiple systems that include the cardiac, renal, and nervous system. The pulvinar sign (PS) is a relatively common sign seen in patients with FD. The PS is a bilateral, symmetrical pulvinar high signal relative to the signal intensity seen on unenhanced T1-weighted brain MR imaging. Methods: We conducted a systematic review with metanalysis to analyze the pool prevalence of the disorder. We used the Moose Guidelines and PRISMA Protocol for this systematic review and Robins 1 to access the BIAS of the study. To analyze the pool prevalence, we used “Open Meta-Analysis” software for analyzing the study. We used “Review Manager 5.4” to analyze the odds ratio between patients with and without the PS and patients with and without stroke among patients with FD. Results: We gather 12 studies from 2003 to 2021 for the analysis of this study. The pool prevalence of the study was 0.146 (0.076–0.217) (62/385 cases) with a 95% CI (0.0945–0.415) (p < 0.01). The prevalence was much higher in men (59 cases) than in women (3 cases). There was no relationship between the pulvinar sign and patients with stroke among patients with Fabry disease. Odds ratio 1.97 95% CI (0.35–11.21), p = 0.44; Tau2 = 0.77. There seems to be a correlation with renal failure (RF), but there were very few studies to conduct a metanalysis with RF. Conclusions: The prevalence of the PS among all studies was 23.9%; the prevalence of this sign is higher among males. We found that FD patients who had strokes did not have higher odds of presenting with the Pulvinar Sign than the FD patients who did not suffer a stroke. Patients with renal failure and FD seem to have a higher tendency to have the PS, but there were not enough studies to analyze that theory. Overall, we think the pulvinar sign has a poor prognostic value in patients with Fabry’s disease.

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Section: Resultsmentioning

confidence: 99%

“…We collected 12 studies across the metanalysis. Figure 2 shows the metanalysis of the prevalence of the PS among patients with FD [10,14,[17][18][19][20][21][22][23][24]. Figure 2 also shows the pool prevalence among the included studies [10,14,[17][18][19][20][21][22][23][24][25][26].…”

Section: Resultsmentioning

confidence: 99%

Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis

Ortíz,

Solís,

Ali

et al. 2022

Neurology International

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“…According to Sawada et al, vasospasm may play an important role in the pathophysiological mechanism of stroke in FD patients. This is supported by the high incidence of spastic coronary angina seen in FD [20]. Hilz et al extensively studied stroke mechanisms and concluded that reduced cerebral blood flow velocities and impaired autoregulation are key factors [21].…”

Section: Pathophysiology Of Stroke In Patients With Fabry Diseasementioning

confidence: 96%

“…FD affects both the peripheral nervous system and the central nervous system (CNS). The CNS symptoms in FD include psychiatric manifestations, headaches, and strokes [ 20 ]. In this systematic review, we only included information on cryptogenic strokes or patients with stroke as the first sign of presentation; therefore, all patients in our sample pool were, by definition, late-onset FD patients.…”

Section: Reviewmentioning

confidence: 99%

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Prevalence of Fabry Disease in Patients With Cryptogenic Strokes: A Systematic Review

Ortíz¹,

Parwani²,

Millhouse³

et al. 2021

Cureus

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Fabry disease (FD) is an X-linked disorder involving multiple organs. Stroke is a serious and frequent complication of FD. Cryptogenic stroke is a common presentation of FD, especially in the young population. The etiology of cryptogenic stroke is highly variable and difficult to assess, frequently leaving patients without a primary diagnosis. We conducted a systematic review to investigate the pooled prevalence of FD among patients with cryptogenic stroke, or patients with FD in whom a stroke was the presenting condition. English-language studies involving humans published in the last 20 years were included in this systematic review. FD was more common in male patients and tended to present at an earlier age. The frequency of hemorrhagic and ischemic strokes in this population was similar to that in the general population. There was a high rate of stroke recurrence in the study sample, even among patients undergoing enzyme replacement therapy. We conclude that screening for FD in patients with cryptogenic stroke is low yield and not cost-effective. However, it may be worthwhile to screen for FD among patients with recurrent strokes.

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Aseptic meningitis and Fabry disease

Montardi,

Gaudemer,

Zuber

et al. 2024

Ann Clin Transl Neurol

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ObjectiveFabry disease is caused by enzymatic defects in alpha‐galactosidase A that leads to the accumulation of glycosphingolipids throughout the body, resulting in a multisystemic disorder. The most common neurological manifestations are neuropathic pain, autonomic nervous system dysfunction and strokes, but some rarer neurological manifestations exist. Among these, aseptic meningitis is a possible complication. Our objectives were to measure the prevalence of this complication in a cohort of patients with Fabry disease, and to describe its clinical features.MethodsWe conducted a retrospective review of Fabry disease patients followed at our tertiary referral center between 1995 and September 2023 with at least one episode of meningitis, and performed a systematic review to identify similar published cases.ResultsFour patients out of 107 (3.7%) had at least one episode of aseptic meningitis. Our systematic review identified 25 other observations. The median age of these 29 patients was 29.0 years, the median cerebrospinal fluid leukocyte count was 24 cells/mm3 with a predominance of lymphocytes in 64.7% of cases. In 82.8% of the patients, the diagnosis of Fabry disease was unknown before the meningitis. Large artery stenosis was present in 17.2% of patients and 57.1% of patients had a recent stroke concomitant with the meningitis. Several differential diagnoses were evoked, such as multiple sclerosis or central nervous system vasculitis.InterpretationOur study suggests that Fabry disease should be considered as a cause of aseptic meningitis. The pathophysiological mechanisms underlying meningeal inflammation remain largely unknown but may reflect the dysregulation of pro‐inflammatory signaling pathways.

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Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease

Cited by 9 publications

References 47 publications

Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis

Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis

Prevalence of Fabry Disease in Patients With Cryptogenic Strokes: A Systematic Review

Aseptic meningitis and Fabry disease

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