Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach

Monte, Marco Angelo; Veroux, Massimiliano; Rodolico, Margherita; Losi, Valentina; Pino, Luigi Di; Bella, Rita; Lanza, Giuseppe; Monte, Ines

doi:10.3390/life12050623

Cited by 6 publications

(5 citation statements)

References 54 publications

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“…In this case report, we aimed to increase the awareness of ATTR detection through a multidimensional assessment and a multiorgan approach. Accordingly, we showed that adequate awareness and prompt recognition of ATTR support early diagnosis and faster access to therapies, thereby slowing the progression and improving the prognosis, as also demonstrated in other rare disorders characterized by multiorgan involvement [16,17].…”

Section: Discussionmentioning

confidence: 68%

Interdisciplinary Multidimensional Assessment of Transthyretin Amyloidosis before and after Tafamidis

Pennisi,

Lanza,

Vitello

et al. 2023

Life

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Background: Clinically, there is considerable heterogeneity in the presentation of transthyretin amyloidosis (ATTR), which ranges from primarily cardiac and primarily neurologic to mixed disease, among other manifestations. Because of this complex presentation, the diagnosis and management of patients with ATTR are often challenging and should be performed in interdisciplinary centers specialized in amyloidosis. Here, we aimed to increase awareness of ATTR detection and pathophysiology through a multidimensional multiorgan approach. Case report: We reported on a 60-year-old man with wild-type ATTR who underwent a number of both basic and advanced cardiological and neurological investigations at baseline and after a treatment period with the TTR tetramer stabilizer, tafamidis. Several findings are provided here, some of which might be considered instrumental correlates of the patient’s clinical improvement after therapy. Conclusions: Adequate awareness and prompt recognition of ATTR support early diagnosis and faster access to therapies, thereby slowing the progression and improving the prognosis. The need for a multidisciplinary alliance between specialists and the opportunity to perform, at least in selected cases, a set of specific examinations for a detailed assessment of ATTR patients can also provide valuable insights into the physiopathology and response to therapy of a disease as complex and intriguing as ATTR.

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Section: Discussionmentioning

confidence: 68%

Interdisciplinary Multidimensional Assessment of Transthyretin Amyloidosis before and after Tafamidis

Pennisi,

Lanza,

Vitello

et al. 2023

Life

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“…D313Y was present at about 11% in both sexes and is widespread in our region. The different pathogenetic variants of AFD are linked with particular clinical manifestations [ 54 , 55 ], such as D165H and R220X with typical AFD with LVH in both genders [ 56 , 57 ]. Variants like E341X and Lys240GlufsTer9, connected with classic AFD and LVH, were also noted in our patients.…”

Section: Discussionmentioning

confidence: 99%

“…Our research endeavors to deepen the understanding of AFD, focusing on the clinical complexity and nuanced presentations that can affect diagnostic and therapeutic decisions, especially in females with non-classical variants. Given the high prevalence of cardiac manifestations, especially in the late-onset phenotype, also despite normal α-Gal A levels and lower lyso-Gb3 compared to men, cardiovascular screening becomes crucial in relatives and suspected cases [ 55 ]. The relationship between genetic variants and the disease is not always straightforward.…”

Section: Discussionmentioning

confidence: 99%

Sex Differences in Anderson–Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women

Faro,

Losi,

Rodolico

et al. 2023

Genes

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Anderson–Fabry Disease (AFD) is a rare, systemic lysosomal storage disease triggered by mutations in the GLA gene, leading to α-galactosidase A (α-Gal A) deficiency. The disease’s X-linked inheritance leads to more severe, early-onset presentations in males, while females exhibit variable, often insidious, manifestations, notably impacting cardiac health. This study aims to examine gender-based AFD cardiac manifestations in correlation with the variant type: classical (CL), late-onset (LO), or variants of uncertain significance (VUS). We analyzed data from 72 AFD patients (53 females, 19 males) referred to the “G. Rodolico” University Hospital, employing enzyme activity measurements, genetic analysis, periodic lyso-Gb3 monitoring, comprehensive medical histories, and advanced cardiac imaging techniques. Statistical analysis was performed using SPSS version 26. Our AFD cohort, with an average age of 45 ± 16.1 years, comprised 12 individuals with hypertrophy (AFD-LVH) and 60 without (AFD-N). Women, representing about 75% of the subjects, were generally older than men (47.2 ± 16.2 vs. 38.8 ± 14.6, p = 0.046). In the female group, 17% had CL variants, 43.3% LO, and 39.6% had VUS, compared to 21.1%, 36.8%, and 31.6% in the male group, respectively. Females exhibited significantly higher α-Gal A values (median 7.9 vs. 1.8 nmol/mL/h, p < 0.001) and lower lyso-Gb3 levels (1.5 [IQR 1.1–1.7] vs. 1.9 [1.5–17.3] nmol/L, p = 0.02). Regarding the NYHA class distribution, 70% of women were in class I and 28% in class II, compared to 84% and 16% of men, respectively. Among women, 7.5% exhibited ventricular arrhythmias (10.5% in men), and 9.4% had atrial fibrillation (10.5% in men). Cardiac MRIs revealed fibrosis in 57% of examined women, compared to 87% of men. Even among patients without LVH, significant differences persisted in α-Gal A and lyso-Gb3 levels (p = 0.003 and 0.04), as well as LVMi (61.5 vs. 77.5 g/sqm, p = 0.008) and GLS values (−20% vs. −17%, p = 0.01). The analysis underscored older age, decreased lyso-Gb3 deposition, reduced hypertrophy, and lesser GLS compromise in females, suggesting later disease onset. Severe cardiac patterns were associated with classic variants, while more nuanced manifestations were noted in those with VUS. Early GLS impairment in males, irrespective of hypertrophy, emphasized the role of subclinical damage in AFD.

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“…A recent study analyzed the oral health in children with neurological impairments, such as cerebral palsy, Down’s syndrome, and autism; however, they focused on oral hygiene and caries and not on oral microflora [ 29 ]. Most studies have analyzed the prevalence of the three bacterial species in the oral cavity of children with neurological impairment, such as Down’s syndrome, and reported that the most frequent bacterial combination is the red complex [ 51 , 52 , 53 ].…”

Section: Discussionmentioning

confidence: 99%

Biochemical and Microbiological Aspects of the Oral Cavity of Children and Young People with Neurological Impairment and Oropharyngeal Dysphagia

Duarte

Costa

Teixeira

et al. 2023

Life

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The components and the salivary flow have a direct influence on the composition of the oral microbiota of children and young people with oropharyngeal dysphagia, and studies have already demonstrated the excessive accumulation of supragingival dental calculus in individuals with enteral nutrition. This study aimed to compare the oral hygiene, biochemical, and microbiological aspects of the oral cavity of children and young people with neurological impairment and oropharyngeal dysphagia. Forty children and young people with neurological impairment and oropharyngeal dysphagia were enrolled and divided into two groups: group I, encompassing 20 participants fed via gastrostomy; and group II, encompassing 20 participants fed via the oral route. Oral hygiene and salivary pH and flow were assessed, and a polymerase chain reaction was performed to evaluate the messenger RNA expressions of Porphyromonas gingivalis, Tanerella forsythia, and Treponema denticola. In groups I and II, the mean Oral Hygiene Index—Simplified scores were 4 and 2, respectively, showing a significant difference; the mean Calculus Index scores were 2 and 0, respectively, showing a significant difference; and the mean pH was 7.5 and 6.0, respectively, showing a significant difference. Bacterial analysis indicated no association between the two groups. It can be concluded that children and young people who use gastrostomy had a poorer oral hygiene, greater dental calculus deposition, and higher salivary pH. The saliva of patients in both groups contained Porphyromonas gingivalis, Tanerella forsythia, and Treponema denticola.

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Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach

Cited by 6 publications

References 54 publications

Interdisciplinary Multidimensional Assessment of Transthyretin Amyloidosis before and after Tafamidis

Interdisciplinary Multidimensional Assessment of Transthyretin Amyloidosis before and after Tafamidis

Sex Differences in Anderson–Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women

Biochemical and Microbiological Aspects of the Oral Cavity of Children and Young People with Neurological Impairment and Oropharyngeal Dysphagia

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