Kurt Widhalm1, Ina Michel Benke2, Michael Fritz3, Harald Geiger4, Oliver Helk5, Maria Fritsch2, Gregor Hoermann6, Gerhard Kostner7. 1. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria. Electronic address: kwidhalm@gmx.at. 2. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria. 3. Hospital Feldkirch, Department of Pediatrics, Austria. 4. Pediatric Care, Dornbirn, Austria. 5. Institute for Medical Sciences, University of Aberdeen, UK. 6. Department of Laboratory Medicine, Medical University of Vienna, Austria. 7. Department of Biochemistry, Medical University of Graz, Austria.
Abstract
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.
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.
Authors: Julia Lischka; Klaus Arbeiter; Charlotte de Gier; Andrea Willfort-Ehringer; Nina-Katharina Walleczek; Renata Gellai; Michael Boehm; Albert Wiegman; Susanne Greber-Platzer Journal: BMC Pediatr Date: 2022-03-12 Impact factor: 2.567