Atherosclerosis · 2017
Homozygous familial hypercholesterolemia: Summarized case reports.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Widhalm Kurt, Benke Ina Michel, Fritz Michael, Geiger Harald, Helk Oliver, Fritsch Maria, Hoermann Gregor, Kostner Gerhard
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultAnticholesteremic AgentsAustriaBiomarkersBlood Component RemovalChildChild, PreschoolCholesterolCombined Modality TherapyCoronary Artery DiseaseEarly DiagnosisFatal OutcomeFemaleGenetic Predisposition to DiseaseHeredityHomozygoteHumansHyperlipoproteinemia Type IIInfantMaleMutationPedigreePhenotypeReceptors, LDLRisk FactorsTime FactorsTreatment Outcome