Friedreich’s Ataxia related Diabetes: Epidemiology and management practices

Tamaroff, Jaclyn; Dedio, Anna; Wade, Kristin; Wells, McKenzie; Park, Courtney; Leavens, Karla F.; Rummey, Christian; Kelly, Andrea; Lynch, David R.; McCormack, Shana E.

doi:10.1016/j.diabres.2022.109828

Cited by 13 publications

(11 citation statements)

References 32 publications

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“…The prevalence of DM among COVID-19 cases that resulted in hospitalization (5/8) and deaths (2/2) was striking compared to that in the total cohort (31/345 or 9.0%, consistent with previous estimates [ 6 , 7 ]). Of note, the true incidence of DM in severe cases is more accurately represented by the proportion requiring supplemental oxygen (5/6).…”

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confidence: 90%

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SARS-CoV-2 in patients with Friedreich ataxia

et al. 2022

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supporting

confidence: 90%

“…Respiratory dysfunction in patients with primary mitochondrial diseases (PMD) independently predicts COVID-19 severity [ 13 ], with overall high disease burden also contributing across various chronic neurological disorders [ 14 ]. In addition, cardiac disease has been associated with FRDA-related DM, though the causative mechanism is unclear [ 7 ].…”

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confidence: 99%

SARS-CoV-2 in patients with Friedreich ataxia

et al. 2022

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“…Moreover, it is anticipated that the guidelines will not only identify the gaps in evidence but also facilitate further studies to address these gaps. Indeed, by the end of this iteration of guideline development, two papers have already arisen from this important process [ 14 , 15 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Corben

Collins

Milne

et al. 2022

Orphanet J Rare Dis

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Background Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were developed in 2014. However, the lack of high-certainty evidence and the inadequacy of accepted metrics to measure health status continues to present challenges in FRDA and other rare diseases. To overcome these challenges, the Grading of Recommendations Assessment and Evaluation (GRADE) framework for rare diseases developed by the RARE-Bestpractices Working Group was adopted to update the clinical guidelines for FRDA. This approach incorporates additional strategies to the GRADE framework to support the strength of recommendations, such as review of literature in similar conditions, the systematic collection of expert opinion and patient perceptions, and use of natural history data. Methods A panel representing international clinical experts, stakeholders and consumer groups provided oversight to guideline development within the GRADE framework. Invited expert authors generated the Patient, Intervention, Comparison, Outcome (PICO) questions to guide the literature search (2014 to June 2020). Evidence profiles in tandem with feedback from individuals living with FRDA, natural history registry data and expert clinical observations contributed to the final recommendations. Authors also developed best practice statements for clinical care points that were considered self-evident or were not amenable to the GRADE process. Results Seventy clinical experts contributed to fifteen topic-specific chapters with clinical recommendations and/or best practice statements. New topics since 2014 include emergency medicine, digital and assistive technologies and a stand-alone section on mental health. Evidence was evaluated according to GRADE criteria and 130 new recommendations and 95 best practice statements were generated. Discussion and conclusion Evidence-based CMGs are required to ensure the best clinical care for people with FRDA. Adopting the GRADE rare-disease framework enabled the development of higher quality CMGs for FRDA and allows individual topics to be updated as new evidence emerges. While the primary goal of these guidelines is better outcomes for people living with FRDA, the process of developing the guidelines may also help inform the development of clinical guidelines in other rare diseases.

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“…Friedreich's ataxia is an autosomal recessive mutation of the mitochondrial protein frataxin that presents early in childhood with progressive spinocerebellar ataxia, cardiac hypertrophy, liver dysfunction, kyphoscoliosis, dysarthria, hearing impairment, and diabetes. [79][80][81] The underlying mutation in Friedreich's ataxia is most commonly a trinucleotide repeat expansion of GAA within the first intron of the frataxin gene, with severity of disease associated with GAA repeat length. Deficiency of frataxin impairs Fe/S cluster formation, which negatively affects many mitochondrial enzymes, resulting in dysfunctional mitochondrial respiration, increased oxidative damage, and iron overload.…”

Section: Friedrich's Ataxiamentioning

confidence: 99%

Iron Metabolism in Cardiovascular Disease: Physiology, Mechanisms, and Therapeutic Targets

Sawicki

Jesus

Ardehali

2023

Circulation Research

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The cardiovascular system requires iron to maintain its high energy demands and metabolic activity. Iron plays a critical role in oxygen transport and storage, mitochondrial function, and enzyme activity. However, excess iron is also cardiotoxic due to its ability to catalyze the formation of reactive oxygen species and promote oxidative damage. While mammalian cells have several redundant iron import mechanisms, they are equipped with a single iron-exporting protein, which makes the cardiovascular system particularly sensitive to iron overload. As a result, iron levels are tightly regulated at many levels to maintain homeostasis. Iron dysregulation ranges from iron deficiency to iron overload and is seen in many types of cardiovascular disease, including heart failure, myocardial infarction, anthracycline-induced cardiotoxicity, and Friedreich’s ataxia. Recently, the use of intravenous iron therapy has been advocated in patients with heart failure and certain criteria for iron deficiency. Here, we provide an overview of systemic and cellular iron homeostasis in the context of cardiovascular physiology, iron deficiency, and iron overload in cardiovascular disease, current therapeutic strategies, and future perspectives.

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Friedreich’s Ataxia related Diabetes: Epidemiology and management practices

Cited by 13 publications

References 32 publications

SARS-CoV-2 in patients with Friedreich ataxia

SARS-CoV-2 in patients with Friedreich ataxia

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Iron Metabolism in Cardiovascular Disease: Physiology, Mechanisms, and Therapeutic Targets

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