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Abstract 441: Relationship Between Diabetes, Glucose Control, And Vascular Health: Findings From The American Heart Association Cardiometabolic Health Strategically Focused Research Network [Meeting Abstract]

Garshick, Michael; Barrett, Tessa A; Jindal, Manila; Newman, Jonathan D; Fadzan, Maja; Bredefeld, Cindy; Levy, Natalie; Akinlonu, Adedoyin; Heguy, Adriana; Drenkova, Schlamp, Florencia; Giannarelli, Chiara; Fisher, Edward A; Goldberg, Ira J; Berger, Jeffrey
ISSN: 1524-4636
CID: 5578852

Guidance for the diagnosis and treatment of hypolipidemia disorders

Bredefeld, Cindy; Hussain, M Mahmood; Averna, Maurizio; Black, Dennis D; Brin, Mitchell F; Burnett, John R; Charrière, Sybil; Cuerq, Charlotte; Davidson, Nicholas O; Deckelbaum, Richard J; Goldberg, Ira J; Granot, Esther; Hegele, Robert A; Ishibashi, Shun; Karmally, Wahida; Levy, Emile; Moulin, Philippe; Okazaki, Hiroaki; Poinsot, Pierre; Rader, Daniel J; Takahashi, Manabu; Tarugi, Patrizia; Traber, Maret G; Di Filippo, Mathilde; Peretti, Noel
The Abetalipoproteinemia and Related Disorders Foundation was established in 2019 to provide guidance and support for the life-long management of inherited hypocholesterolemia disorders. Our mission is "to improve the lives of individuals and families affected by abetalipoproteinemia and related disorders". This review explains the molecular mechanisms behind the monogenic hypobetalipoproteinemia disorders and details their specific pathophysiology, clinical presentation and management throughout the lifespan. In this review, we focus on abetalipoproteinemia, homozygous hypobetalipoproteinemia and chylomicron retention disease; rare genetic conditions that manifest early in life and cause severe complications without appropriate treatment. Absent to low plasma lipid levels, in particular cholesterol and triglyceride, along with malabsorption of fat and fat-soluble vitamins are characteristic features of these diseases. We summarize the genetic basis of these disorders, provide guidance in their diagnosis and suggest treatment regimens including high dose fat-soluble vitamins as therapeutics. A section on preconception counseling and other special considerations pertaining to pregnancy is included. This information may be useful for patients, caregivers, physicians and insurance agencies involved in the management and support of affected individuals.
PMID: 36243606
ISSN: 1933-2874
CID: 5361332

New Classification and Management of Abetalipoproteinemia and Related Disorders

Bredefeld, Cindy; Peretti, Noel; Hussain, M Mahmood
PMID: 33275938
ISSN: 1528-0012
CID: 5160722

Ketogenic diets, not for everyone

Goldberg, Ira J; Ibrahim, Nouran; Bredefeld, Cindy; Foo, Sandra; Lim, Vivien; Gutman, Deborah; Huggins, Lesley-Ann; Hegele, Robert A
BACKGROUND:The adoption of low-carbohydrate diets can lead to weight loss in many patients. However, these now widespread diets also have the potential to exacerbate hypercholesterolemia. OBJECTIVE:The objective of this study is to display the potentially harmful effects of the ketogenic diet on cholesterol levels in patients with or without underlying hyperlipidemia. METHODS:We describe 5 patients who developed marked increases in plasma cholesterol on ketogenic diets and assessed whether they had a well-described underlying genetic hyperlipidemia. RESULTS:Three out of 5 patients had extraordinary increases of blood cholesterol levels to over 500 mg/dL. The other 2 patients more than doubled their low-density lipoprotein cholesterol levels on a ketogenic diet. One patient had an APOE E2/E2 genotype. A higher burden of common genetic polymorphisms was found in 2 patients, with no major mutations found. No potential genetic cause was seen in a fourth patient, and the fifth patient had no genetic testing. Three patients, including the one who was most hypercholesterolemic, had a marked reduction in cholesterol after reverting to a more liberal diet. One refused to change his diet but had a satisfactory low-density lipoprotein cholesterol reduction on ezetimibe. CONCLUSION/CONCLUSIONS:These cases should serve as a caution that high-fat low-carbohydrate diets have the potential to exacerbate or cause hypercholesterolemia in patients with or without underlying genetic hyperlipidemia.
PMID: 33191194
ISSN: 1933-2874
CID: 4716282

Efficacy and Safety of Dapagliflozin in Patients With Inadequately Controlled Type 1 Diabetes (the DEPICT-2 Study): 24-Week Results From a Randomized Controlled Trial

Mathieu, Chantal; Dandona, Paresh; Gillard, Pieter; Senior, Peter; Hasslacher, Christoph; Araki, Eiichi; Lind, Marcus; Bain, Stephen C; Jabbour, Serge; Arya, Niki; Hansen, Lars; Thoren, Fredrik; Langkilde, Anna Maria; [Bredefeld, Cindy L; et al]
OBJECTIVE:7.5-10.5%). RESEARCH DESIGN AND METHODS:= 272) plus insulin. Insulin dose was adjusted by investigators according to self-monitored glucose readings, local guidance, and individual circumstances. RESULTS:≥0.5% without severe hypoglycemia compared with placebo. Adverse events were reported for 72.7%, 67.0%, and 63.2% of patients receiving dapagliflozin 5 mg, dapagliflozin 10 mg, and placebo, respectively. Hypoglycemia, including severe hypoglycemia, was balanced between groups. There were more adjudicated definite diabetic ketoacidosis (DKA) events with dapagliflozin: 2.6%, 2.2%, and 0% for dapagliflozin 5 mg, dapagliflozin 10 mg, and placebo, respectively. CONCLUSIONS:Dapagliflozin as adjunct therapy to adjustable insulin in patients with type 1 diabetes was well tolerated and improved glycemic control with no increase in hypoglycemia versus placebo but with more DKA events.
PMID: 30026335
ISSN: 1935-5548
CID: 3401272

ERAS: Preoperative Carbohydrate Loading in Type 2 Diabetes while Maintaining Glycemic Targets [Meeting Abstract]

Bredefeld, Cindy L.; Peragallo-Dittko, Virginia
ISSN: 0012-1797
CID: 3401252

Biomarkers of Endothelial Dysfunction and Glycemic Variability in Type 2 Diabetes Mellitus. [Meeting Abstract]

Bredefeld, C. L.; Dillard, T. H.; Shapiro, L. E.; Sievert, R.; Hall, C. E.; Yousefzadeh, P.; Egan, E. A.; Baron, T.; Feuerman, M.
ISSN: 0163-769x
CID: 3401262