2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The Impact of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency on the Family

Pdf Summary

This study aimed to evaluate the impact of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) on the family, specifically in relation to the patient's diet and barriers to care. The researchers conducted a caregiver survey and a retrospective chart review to assess specific clinical outcomes. They also compared genotype and phenotype with family perception.<br /><br />VLCADD is a fatty acid oxidation disorder that affects the breakdown of fats with carbon chain lengths of 14 to 20. Symptoms can vary in severity and include hypoketotic hypoglycemia, rhabdomyolysis, and cardiomyopathy. Patients are typically treated with a fat-limiting diet and prevention of fasting. This study was a part of a Long-Term Follow-Up Project on health outcomes of children identified through newborn screening.<br /><br />The results showed that 80% of caregivers reported that VLCADD had impacted their family's ability to access care in some way, suggesting that factors beyond the condition itself influenced clinical care. The barriers identified by families included financial difficulties, impact on work, and access to nutrition.<br /><br />There were some limitations to the study, such as the small cohort size due to it being conducted at a single institution. The authors suggest that expanding this pilot data to other clinics could bring more attention to the impact VLCADD has on the family.<br /><br />In terms of clinical outcomes, the study found that rhabdomyolysis was present in 5 of the participants, while cardiomyopathy was not reported. There were 8 emergency room visits related to VLCADD. Additionally, increased emotional distress was reported by 7 caregivers, and 4 caregivers reported difficulties managing VLCADD.<br /><br />The study acknowledges the participation of families, the Georgia Newborn Screening Program, the Georgia Long-Term Follow-Up Project, and the Georgia Association of Genetic Counselors. Overall, the study highlights the impact of VLCADD on families and suggests the need for further research and support in managing this disorder.

Asset Subtitle

Presenting Author - Sarah Crawford, BA; Co-Author - Juanita Neira Fresneda, MD; Co-Author - Elizabeth Sablon, MPH; Co-Author - Ami R. Rosen, MS, CGC; Co-Author - Nadia Ali, PhD; Co-Author - Emalyn Cork, MS, CGC;

Meta Tag

Metabolic Disorder

Psychosocial Issues

Variant Detection

Co-Author Juanita Neira Fresneda, MD

Co-Author Elizabeth Sablon, MPH

Co-Author Ami R. Rosen, MS, CGC

Co-Author Nadia Ali, PhD

Co-Author Emalyn Cork, MS, CGC

Presenting Author Sarah Crawford, BA

Keywords

VLCADD

family impact

patient's diet

barriers to care

fatty acid oxidation disorder

hypoketotic hypoglycemia

rhabdomyolysis

fat-limiting diet

clinical outcomes

support