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Familial Dyslipidemias • Hyperchylomicronemia • Familial hypercholesterolemia • Dysbetalipoproteinemia • Hypertriglyceridemia Sarah Lyon @sarahthelyon #Familial #Dyslipidemias #lipidemia #cardiology
Familial Dyslipidemias ... Hyperchylomicronemia • Familial ... sarahthelyon #Familial ... metabolism #diagnosis #differential
Abnormal Lipid Profiles - Differential Diagnosis Algorithm Increased Cholesterol and Triglycerides - Genetic Causes
Lipid Profiles - Differential ... Causes • Familial ... Hyperlipidemia • Familial ... Causes • Familial ... LipidProfiles #Differential
Characteristics of Common Lipid Disorders Polygenic hypercholesterolemia Atherogenic dyslipidemia • Frequently accompanied by central obesity or diabetes Familial hypercholesterolemia,
obesity or diabetes Familial ... comeal arcus Familial ... decade of life Familial ... history, HLD Familial ... defects #diagnosis #differential
Hypomagnesemia - Differential Diagnosis Renal Causes of Hypomagnesemia - Familial: Bartter syndrome and Gitelman syndrome, Isolated recessive hypomagnesemia,
Hypomagnesemia - Differential ... Hypomagnesemia - Familial ... hypomagnesemia, Familial ... Hypomagnesemia #differential
Causes of Hypercalcemia - Differential Diagnosis Algorithm • Primary Hyperparathyroidism • Possible Familial Hypocalciuric Hypercalcemia
Hypercalcemia - Differential ... • Possible Familial ... Hypercalcemia #Differential
Hirsutism - Differential Diagnosis Algorithm RAPID ONSET Medications • Steroids • Danazol • Progestin Containing Contraceptives Increased Serum Testosterone
Hirsutism - Differential ... Menstrual Cycles • Familial ... #Hirsutism #Differential
Hypercalcemia - Differential Diagnosis Algorithm Primary Hyperparathyroidism • Adenoma • Hyperplasia • MEN 1 and 2A Tertiary Hyperparathyroidism
Hypercalcemia - Differential ... Post-Renal Transplant) Familial ... CaSR) • Other Familial ... Hypercalcemia #Differential
Hypercalcemia - Differential Diagnosis Algorithm Elevated PTH (High or normal): • Primary Hyperparathyroidism • Familial Hypocalciuric Hypercalcemia Low
Hypercalcemia - Differential ... Hyperparathyroidism • Familial ... Hypercalcemia #Differential
Causes of Hypermagnesemia Increased magnesium load - Magnesium-containing laxatives, antacids, or enemas - Treatment of pre-edampsia/eclampsia (mothers
Hyperparathyroidism - Familial ... Causes #diagnosis #differential
Causes of Hypercalcemia Parathyroid hormone–dependent Primary hyperparathyroidism Familial hypocalciuric hypercalcemia Lithium-associated Tertiary hyperparathyroidism Genetic disorders (e.g., multiple endocrine neoplasia type 1 or
hyperparathyroidism Familial ... 1 or type 2A, familial ... Hypercalcemia #Causes #Differential
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