Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Widhalm, K; Benke, IM; Fritz, M; Geiger, H; Helk, O; Fritsch, M; Hoermann, G; Kostner, G.
Homozygous familial hypercholesterolemia: Summarized case reports.
Atherosclerosis. 2017; 257:86-89
Doi: 10.1016/j.atherosclerosis.2017.01.002
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
- Co-Autor*innen der Med Uni Graz
- Fritsch Maria
- Kostner Gerhard
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- Abstract:
- Homozygous familial hypercholesterolemia (hoFH) is a rare genetic disorder with potential severe atherosclerosis in the pediatric age. 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. 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. 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. Copyright © 2017 Elsevier B.V. All rights reserved.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Anticholesteremic Agents - therapeutic use
- Austria -
- Biomarkers - blood
- Blood Component Removal -
- Child -
- Child, Preschool -
- Cholesterol - blood
- Combined Modality Therapy -
- Coronary Artery Disease - genetics
- Coronary Artery Disease - prevention & control
- Early Diagnosis -
- Fatal Outcome -
- Female -
- Genetic Predisposition to Disease -
- Heredity -
- Homozygote -
- Humans -
- Hyperlipoproteinemia Type II - blood
- Hyperlipoproteinemia Type II - diagnosis
- Hyperlipoproteinemia Type II - genetics
- Hyperlipoproteinemia Type II - therapy
- Infant -
- Male -
- Mutation -
- Pedigree -
- Phenotype -
- Receptors, LDL - genetics
- Risk Factors -
- Time Factors -
- Treatment Outcome -
- Find related publications in this database (Keywords)
- FH
- Early treatment
- LDL-apheresis
- Lp(a)