Barriers to Transplantation in Adults with Inborn Errors of Metabolism

Sirrs, Sandra; Faghfoury, Hanna; Yoshida, Eric M.; Geberhiwot, Tarekegn

doi:10.1007/8904_2012_171

Cited by 3 publications

(4 citation statements)

References 16 publications

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“…It is possible in all jurisdictions to apply for MELD exceptions on a case by case basis so an exception could be requested for any adult patient with a UCD. However, unfamiliarity of adult transplant programs with the disorders (leading to a perception that the patient was Btoo well^for transplantation) was listed as one of the barriers in access to transplantation in an international survey of adult metabolic centers (Sirrs et al 2013). Data from the United States show that only 0.8% of the requests for MELD exceptions in 2014 were for metabolic diseases (OPTN 2015).…”

Section: Meld Exemptionsmentioning

confidence: 99%

“…Data from the United States show that only 0.8% of the requests for MELD exceptions in 2014 were for metabolic diseases (OPTN 2015). This may reflect the relative rareness of adult transplant referrals for UCD and indeed, less than half of the adult metabolic centers surveyed had referred an adult for transplant assessment (Sirrs et al 2013). The reasons for this low referral rate are not clear but one contributing factor may be the fact that metabolic centers are more often concentrated in pediatric institutions (and therefore separate from adult transplant centers) which complicates both the referral process and consideration of peri-transplant management.…”

Section: Meld Exemptionsmentioning

confidence: 99%

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Transplantation as disease modifying therapy in adults with inherited metabolic disorders

Sirrs

Hannah‐Shmouni

Nantel

et al. 2018

J of Inher Metab Disea

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Transplantation is an established disease modifying therapy in selected children with certain inherited metabolic diseases (IMDs). Transplantation of hematopoietic stem cells or solid organs can be used to partially correct the underlying metabolic defect, address life threatening disease manifestations (such as neutropenia) or correct organ failure caused by the disease process. Much less information is available on the use of transplantation in adults with IMDs. Transplantation is indicated for the same IMDs in adults as in children. Despite similar disease specific indications, the actual spectrum of diseases for which transplantation is used differs between these age groups and this is partly related to the natural history of disease. There are diseases (such as urea cycle defects and X-linked adrenoleukodystrophy) for which transplantation is recommended for selected symptomatic patients as a treatment strategy in both adults and children. In those diseases, the frequency with which transplantation is used in adults is lower than in children and this may be related in part to a reduced awareness of transplantation as a treatment strategy amongst adult clinicians as well as limited donor availability and allocation policies which may disadvantage adult patients with IMDs. Risks of transplantation and disease-specific prognostic factors influencing outcomes also differ with age. We review the use of transplantation as a disease modifying strategy in adults focusing on how this differs from use in children to highlight areas for future research.

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Section: Meld Exemptionsmentioning

confidence: 99%

Section: Meld Exemptionsmentioning

confidence: 99%

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

Sirrs

Hannah‐Shmouni

Nantel

et al. 2018

J of Inher Metab Disea

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“…A title focusing on both IEM and adults was found in 25 papers and neurological symptoms were the main topic in nine of these. They focus on neurological symptoms in general , movement disorders , parkinsonism , epilepsy , spastic paraparesis , neuropathy and stroke .…”

Section: Resultsmentioning

confidence: 99%

The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway

Hope

Johannessen

Aanonsen

et al. 2015

Euro J of Neurology

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“…Organ transplantation (mainly liver transplantation and HSCT) is also a treatment option for several IEMs ( Sirrs et al , 2013 ; Boelens et al , 2014 ). Within this context, the microbiome was recently noted as a key factor in graft- vs. -host disease (GVHD).…”

Section: Inborn Errors Of Metabolism (Iem)mentioning

confidence: 99%

The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

2018

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Research into the influence of the microbiome on the human body has been shedding new light on diseases long known to be multifactorial, such as obesity, mood disorders, autism, and inflammatory bowel disease. Although inborn errors of metabolism (IEMs) are monogenic diseases, genotype alone is not enough to explain the wide phenotypic variability observed in patients with these conditions. Genetics and diet exert a strong influence on the microbiome, and diet is used (alone or as an adjuvant) in the treatment of many IEMs. This review will describe how the effects of the microbiome on the host can interfere with IEM phenotypes through interactions with organs such as the liver and brain, two of the structures most commonly affected by IEMs. The relationships between treatment strategies for some IEMs and the microbiome will also be addressed. Studies on the microbiome and its influence in individuals with IEMs are still incipient, but are of the utmost importance to elucidating the phenotypic variety observed in these conditions.

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Barriers to Transplantation in Adults with Inborn Errors of Metabolism

Abstract: Background: Transplantation in patients with inborn errors of metabolism (IEM) may be used as rescue therapy for acute decompensation, organ replacement, or disease-modifying therapy. We sought to quantify the use of transplantation in adults with IEM.

Cited by 3 publications

References 16 publications

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway

The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

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