Homozygous familial hypercholesterolemia: Summarized case reports
| Autor: | Ina Michel Benke, Gerhard M. Kostner, Maria Fritsch, Kurt Widhalm, Harald Geiger, Michael Fritz, Gregor Hoermann, Oliver Helk |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Heredity Time Factors Adolescent Familial hypercholesterolemia Coronary Artery Disease 030204 cardiovascular system & hematology Hyperlipoproteinemia Type II 03 medical and health sciences 0302 clinical medicine Fatal Outcome Risk Factors medicine Effective treatment Humans Genetic Predisposition to Disease 030212 general & internal medicine Child business.industry Anticholesteremic Agents Homozygote Genetic disorder Infant Pediatric age medicine.disease Combined Modality Therapy Surgery Pedigree Stenosis Apheresis Cholesterol Early Diagnosis Phenotype Treatment Outcome Receptors LDL LDL apheresis Austria Child Preschool Mutation Life expectancy Blood Component Removal Female Cardiology and Cardiovascular Medicine business Biomarkers |
| Zdroj: | Atherosclerosis. 257 |
| ISSN: | 1879-1484 |
| Popis: | Background and aims Homozygous familial hypercholesterolemia (hoFH) is a rare genetic disorder with potential severe atherosclerosis in the pediatric age. Methods We report on 9 patients with hoFH, who had been diagnosed within the last 30 years and who were consequently treated with apheresis and drugs. Results Two deaths occurred: one at age 36 years and the other at age four and a half years before effective treatment was commenced. All other patients are still in good clinical condition today, although four of them have proven aortic stenosis or arterial plaques. Conclusions Our case report highlights that adequate treatment should start as early as possible to delay the onset of clinical manifestations of atherosclerosis. It can be assumed that the introduction of new drugs can improve the outcome and possibly lengthen the life expectancy of patients affected by hoFH. |
| Databáze: | OpenAIRE |
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