When a 'normal' cholesterol level is not normal: Exposing an unusual presentation of familial hypercholesterolemia
| Autor: | Carl E. Orringer, Jelani K. Grant |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Nutrition and Dietetics
medicine.diagnostic_test business.industry Endocrinology Diabetes and Metabolism Genetic variants Physiology Familial hypercholesterolemia 030204 cardiovascular system & hematology medicine.disease 03 medical and health sciences 0302 clinical medicine Increased risk Internal Medicine medicine lipids (amino acids peptides and proteins) In patient Normal cholesterol 030212 general & internal medicine Presentation (obstetrics) Cardiology and Cardiovascular Medicine business Genetic testing Lipoprotein cholesterol |
| Zdroj: | Journal of Clinical Lipidology. 14:414-418 |
| ISSN: | 1933-2874 |
| DOI: | 10.1016/j.jacl.2020.05.001 |
| Popis: | A classic finding in patients with familial hypercholesterolemia is the presence of markedly elevated levels of total and low-density lipoprotein cholesterol (LDL-C) with an LDL-C concentration of 190 mg/dL or greater. However, severe hypercholesterolemia is not inevitably present, and many patients who carry this diagnosis may have lower LDL-C levels. This case history describes a young woman whose mother and brother met clinical and genetic criteria for heterozygous familial hypercholesterolemia, but who had only a mild elevation in LDL-C, falling to |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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