A diagnosis of Fabry gastrointestinal disease by chance: a case report

Feriozzi, Sandro; Torre, E Sanz; Ranalli, Teresa Valentina; Cardello, Paolo; Morrone, Amelia; Ancarani, E

doi:10.1097/meg.0b013e32800fef46

Cited by 5 publications

(4 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…abdominal pain, constipation, nausea, and vomiting) with agalsidase alfa was reported in one single-arm CT (five patients followed for 24 months) [31] and two OS publications (in 33 male patients followed for 24 months [46] and in up to 77 male patients followed for on average 48 months in a registry study [48]) (Supplementary Table 17). Most (4 of 5) CRs with agalsidase alfa also observed reduced GI outcomes [59,62,67,190] but one CR described worsening abdominal pain, bloating, postprandial vomiting, and sporadic diarrhoea after 4 years of treatment [65].…”

Section: Resultsmentioning

confidence: 99%

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Germain

Elliott

Falissard

et al. 2019

Molecular Genetics and Metabolism Reports

153

View full text Add to dashboard Cite

BackgroundEnzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.MethodsWe conducted a comprehensive systematic literature review of all original articles on ERT in the treatment of Fabry disease published up until January 2017. This article presents the findings in adult male patients.ResultsClinical evidence for the efficacy of ERT in adult male patients was available from 166 publications including 36 clinical trial publications. ERT significantly decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types, slows the decline in estimated glomerular filtration rate, and reduces/stabilizes left ventricular mass and cardiac wall thickness. ERT also improves nervous system, gastrointestinal, pain, and quality of life outcomes.ConclusionsERT is a disease-specific treatment for patients with Fabry disease that may provide clinical benefits on several outcomes and organ systems. Better outcomes may be observed when treatment is started at an early age prior to the development of organ damage such as chronic kidney disease or cardiac fibrosis. Consolidated evidence suggests a dose effect. Data described in male patients, together with female and paediatric data, informs clinical practice and therapeutic goals for individualized treatment.

show abstract

Section: Resultsmentioning

confidence: 99%

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

Germain

Elliott

Falissard

et al. 2019

Molecular Genetics and Metabolism Reports

153

View full text Add to dashboard Cite

show abstract

“…This literature review suggests that family genetic testing used in combination with newborn screening or screening of at-risk populations, such as patients on renal replacement therapy or those with hypertrophic cardiomyopathy (HCM), can lead to the identification of several additional family members with Fabry disease (Table 1), with one screening study among 150 patients with HCM reporting an additional 99 relatives diagnosed with the disease from 21 probands (Azevedo et al, 2020). Variable prevalence of Fabry disease was found using newborn screening or screening of at-risk populations, with additional affected relatives disclosed using family genetic testing after identification of index cases (Adalsteinsdottir et al, 2017;Azevedo et al, 2020;Barman et al, 2020;Chinen et al, 2017;De Brabander et al, 2013;Feriozzi et al, 2007;Hagège et al, 2011;Liao et al, 2018;Lin et al, 2018;Lv et al, 2009;Maron et al, 2018;Merta et al, 2007;Okur et al, 2013;Russo et al, 2018;Silva et al, 2016;Spada et al, 2006;Terryn et al, 2008;Turkmen et al, 2016;Veloso et al, 2018). Family screening for rare genetic diseases can be highly effective, but the logistics and economics of its implementation are complex.…”

Section: Insights From the Literaturementioning

confidence: 99%

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Germain

Moiseev

Süárez-Obando

et al. 2021

Molec Gen & Gen Med

View full text Add to dashboard Cite

show abstract

“…GI symptoms are often the first presenting symptoms of the disease [6], and a Fabry diagnosis may be made incidentally either because of physician recognition of the distinctive ocular signs (cornea verticillata) or skin lesions (angiokeratomas) ( Fig. 4) [2,10], or as a result of screening of other family members [48,49]. However, the majority of patients experience long diagnostic delays, and misdiagnosis is common [18].…”

Section: Diagnostic Challengesmentioning

confidence: 99%

“…ERT has been shown to improve GI symptoms associated with Fabry disease (Supplemental Table 1) [5,7,9,12,38,43,48,[60][61][62][63][64]. In a small study, 4 adult male patients with GI symptoms, including postprandial abdominal pain, bloating, frequent diarrhoea, vomiting, food intolerance, and poor weight gain, were treated with agalsidase beta (1.0 mg/kg every other week) [62].…”

Section: Treatment Of Fabry Diseasementioning

confidence: 99%

Non-specific gastrointestinal features: Could it be Fabry disease?

Hilz

Arbustini

Dagna

et al. 2018

Digestive and Liver Disease

View full text Add to dashboard Cite

Non-specific gastrointestinal symptoms, including pain, diarrhoea, nausea, and vomiting, can be the first symptoms of Fabry disease. They may suggest more common disorders, e.g. irritable bowel syndrome or inflammatory bowel disease. The confounding clinical presentation and rarity of Fabry disease often cause long diagnostic delays and multiple misdiagnoses. Therefore, specialists involved in the clinical evaluation of non-specific upper and lower gastrointestinal symptoms should recognize Fabry disease as a possible cause of the symptoms, and should consider Fabry disease as a possible differential diagnosis. When symptoms or family history suggest Fabry disease, in men, low alpha-galactosidase A enzyme levels, and in women, specific Fabry mutations confirm the diagnosis. In addition to symptomatic treatments, disease-specific enzyme replacement therapy with recombinant human alpha-galactosidase A enzyme or chaperone therapy (migalastat) in patients with amenable mutations can improve the disease, including gastrointestinal symptoms, and should be initiated as early as possible after Fabry disease has been confirmed; starting enzyme replacement therapy at as young an age as possible after diagnosis improves long-term clinical outcomes. Improved diagnostic tools, such as a modified gastrointestinal symptom rating scale, may facilitate diagnosing Fabry disease in patients with gastrointestinal symptoms of unknown cause and thus assure timely initiation of disease-specific treatment.

show abstract

A diagnosis of Fabry gastrointestinal disease by chance: a case report

Cited by 5 publications

References 8 publications

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

Non-specific gastrointestinal features: Could it be Fabry disease?

Contact Info

Product

Resources

About