CR-17
Managing a rare deficiency beyond the genetics in immigrant populations: addressing the cultural and social barriers to accessing care.
1Gwynn L, 2Lins G
1University of Miami Miller School of Medicine, Miami, FL, United states; 2Nova Southeastern University Kiran C. Patel College of Osteopathic Medicine, Davie, FL, United states
LCHAD (Long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency is caused by a rare autosomal recessive mutation. This deficiency can be charactrized by symptoms such as hypoglycemia, cardiomyopathy, hepatomegaly, muscular hypotonia, pigmentary retinopathy, and sudden death. A diagnosis is generally made in early childhood using a patient’s medical history, physical exam, and specialized laboratory tests. We describe a 2-year-old Hispanic female born in Peru whom recently immigrated to the United States with a history of several episodes of acute rhabdomyolysis, and two ICU admissions for coma. The diagnosis was confirmed by the genetics department in a U.S. hospital, where her follow-up primary care was quite challenging due to the complexity of the condition and cost of treatment necessary for survival. This case report looks to examine the unique clinical presentation of this patient as well as addressing the social and cultural barriers to access of care in the U.S. for an immigrant living with a rare defiency.
Reference:
LCHAD deficiency. Genetic and Rare Diseases Information Center.
https://rarediseases.info.nih.gov/diseases/6867/lchad-deficiency. Updated December 13, 2017. Accessed December 17, 2017.
Top
