Could nutritional therapy take us further in our approaches to Fabry disease?

Francini-Pesenti, Francesco; Ravarotto, Verdiana; Bertoldi, Giovanni; Spinella, Paolo; Calò, Lorenzo A.

doi:10.1016/j.nut.2019.110664

Cited by 10 publications

(24 citation statements)

References 83 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To the best of our knowledge, no specific dietary interventions on FD patients have been reported, and recommendations are the same for IBS patients. 13 , 74 …”

Section: Treatment Of Gastrointestinal Symptoms In Fabry Diseasementioning

confidence: 99%

Fabry disease – a multisystemic disease with gastrointestinal manifestations

Lenders

Brand

2022

Gut Microbes

View full text Add to dashboard Cite

Nonspecific gastrointestinal (GI) symptoms, such as postprandial cramping pain, diarrhea, nausea and vomiting are typical symptoms for irritable bowel syndrome or inflammatory bowel disease, but may also be the first symptoms of Fabry disease (FD). This review focus on GI manifestations in FD, by providing an overview of symptoms, a proper diagnosis, an appropriate management by FD-specific and concomitant medications and lifestyle interventions. We provide comprehensive literature-based data combined with personal experience in the management of FD patients. Since FD is rare and the clinical phenotype is heterogeneous, affected patients are often misdiagnosed. Consequently, physicians should consider FD as a possible differential diagnosis when assessing unspecific GI symptoms. Improved diagnostic tools, such as a modified GI symptom assessment scale can facilitate the diagnosis of FD in patients with GI symptoms of unknown cause and thus enable the timely initiation of a disease-specific therapy. Expansive intravenous enzyme replacement therapy with α-galactosidase A or oral chaperone therapy for patients with amenable mutations improve the disease burden including GI symptoms, but a timely start of therapy is crucial for the prognosis. A special diet low in fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAP) or pro- and prebiotics might improve FD-typical GI symptoms. Furthermore, preliminary success was reported with the oral administration of α-galactosidase A. In addition to a timely initiation of FD-specific therapy, affected patients with GI symptoms might benefit from a FODMAP-low diet, pro- and prebiotics and/or low-cost oral substitution with AGAL to support digestion and reduce dysbiosis.

show abstract

“…To the best of our knowledge, no specific dietary interventions on FD patients have been reported, and recommendations are the same for IBS patients. 13 , 74 …”

Section: Treatment Of Gastrointestinal Symptoms In Fabry Diseasementioning

confidence: 99%

Fabry disease – a multisystemic disease with gastrointestinal manifestations

Lenders

Brand

2022

Gut Microbes

View full text Add to dashboard Cite

show abstract

“…In this regard, specific dietary interventions and bioactive compounds present in foods may interfere with specific OS pathways that induce tissue-damaging effects (39). To date, very few studies have investigated an antioxidant treatment in FD.…”

Section: Discussionmentioning

confidence: 99%

The Effect of Green Tea as an Adjuvant to Enzyme Replacement Therapy on Oxidative Stress in Fabry Disease: A Pilot Study

et al. 2022

Self Cite

View full text Add to dashboard Cite

Enzymatic replacement therapy (ERT) is not very effective in halting the progression of Fabry disease (FD) toward cardiovascular (CV)-renal remodeling, particularly in case of late diagnosis. FD patients have increased oxidative stress (OS), critical for the induction of CV-renal remodeling. We investigated the effects of an adjuvant antioxidant treatment to ERT on OS and the possible advantages for related complications. OS was evaluated in 10 patients with FD before ERT, after 12 months of ERT, and after 6 months of adjuvant green tea (GT) to ERT by the following experiments: expression of p22phox; phosphorylation state of MYPT-1 and ERK 1/2 (by western blotting); and quantification of malondialdehyde (MDA) and heme oxygenase (HO)-1 levels (by ELISA). p22phox and MYPT-1 phosphorylation decreased after ERT and significantly further decreased after GT. ERK 1/2 phosphorylation and MDA levels remained unchanged after ERT, but significantly decreased after GT. HO-1 significantly increased after ERT and further increased after GT. This study provides preliminary data highlighting the antioxidant effect exerted by ERT itself, further amplified by the adjuvant antioxidant treatment with GT. The results of this study provide evidence of the positive effect of early additive antioxidant treatment to reduce OS and prevent/alleviate cardio and cerebrovascular-renal complications related to OS.

show abstract

“…FD GI symptoms are indeed similar to Irritable Bowel Syndrome (IBS), where a low- FODMAP diet (Fermentable Oligosaccharides, Disaccharides, Monosaccharides, and Polyols) has proved effective [ 8 , 17 , 18 , 19 , 20 ]. Short-chain fermentable carbohydrates induce an osmotic effect by drawing water into the intestinal and/or colonic lumen, so FODMAPs in the distal ileum and colon can be fermented to short-chain fatty acids and gases, enhancing GI manifestations [ 18 , 19 ].…”

Section: Introductionmentioning

confidence: 99%

“…Since many FODMAPs require AGAL to be digested, FD patients appear potentially responsive to this dietary protocol [ 7 , 9 , 21 ]. It usually consists of two different phases: 4–6 weeks of elimination phase on a low- FODMAP diet, followed by a gradual reintroduction phase of FODMAP-rich foods in order to define which ones are tolerated or not [ 17 , 18 ]. Some IBS patients benefit from orally recombinant AGAL administration; in FD patients also, it can support nutrients’ digestion, improve pro-inflammatory status, and reduce dysbiosis by depleting intestinal lyso-Gb3 [ 7 , 22 , 23 ].…”

Section: Introductionmentioning

confidence: 99%

“…Since there is clinical efficacy of the low- FODMAP diet in patients with IBS [ 20 , 26 ], this dietary protocol can represent thereby an interesting nutritional approach in FD patients [ 17 , 21 ]. If on the one hand it requires adherence by patients, on the other hand it is a non-drug treatment that could be effective in improving GI symptoms and consequently, also the quality of life of FD patients [ 7 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Gastrointestinal Manifestations and Low-FODMAP Protocol in a Cohort of Fabry Disease Adult Patients

et al. 2023

Self Cite

View full text Add to dashboard Cite

Fabry disease (FD) is an X-linked lysosomal disorder caused by α-galactosidase A enzyme deficiency. Gastrointestinal (GI) manifestations are reported in FD with a prevalence of about 50%, usually treated by Enzymatic Replacement Therapy (ERT) or oral treatment. Since FODMAPs (Fermentable Oligosaccharides, Disaccharides, Monosaccharides, and Polyols) can be involved in GI manifestations and dysbiosis in FD patients, a low-FODMAP diet could represent an alternative adjunctive treatment in FD subjects, as well as being useful for reducing symptoms in Irritable Bowel Syndrome (IBS). We retrospectively assessed data from 36 adult FD patients followed at the Inherited Metabolic Rare Diseases Adult Centre of the University Hospital of Padova (mean age 47.6 ± 16.2 years). Patients were screened for GI symptoms by IBS severity score and Gastrointestinal Symptom Rating Scale (GSRS) questionnaires. In symptomatic patients, the low-FODMAP diet was proposed in order to improve GI manifestations; it consists of a phase of elimination of fermentable saccharides, succeeded by a gradual reintegration of the same. Severe or moderate GI symptoms were found in 61.1% of patients, with no correlation to the therapy in use, and significantly more severe in the classical form of FD. The protocol was completed by seven patients affected by severe GI manifestations, significantly higher than the others. The low-FODMAP diet significantly improved indigestion, diarrhoea, and constipation. This dietetic protocol seemed to have a positive impact on intestinal symptoms, by identifying and reducing the intake of the foods most related to the onset of disorders and improving the clinical manifestations. A low-FODMAP diet may be an effective alternative approach to improve intestinal manifestations and quality of life, and nutrition can play an important role in the multidisciplinary care of patients with FD.

show abstract

Could nutritional therapy take us further in our approaches to Fabry disease?

Cited by 10 publications

References 83 publications

Fabry disease – a multisystemic disease with gastrointestinal manifestations

Fabry disease – a multisystemic disease with gastrointestinal manifestations

The Effect of Green Tea as an Adjuvant to Enzyme Replacement Therapy on Oxidative Stress in Fabry Disease: A Pilot Study

Gastrointestinal Manifestations and Low-FODMAP Protocol in a Cohort of Fabry Disease Adult Patients

Contact Info

Product

Resources

About