Abstract | BACKGROUND: METHODS: The clinical courses of a pair of siblings with an identical hoFH genotype, who exhibited major similarities of their clinical phenotype were analyzed in a case-control fashion including the family. RESULTS: CONCLUSIONS: LLT including LA should be initiated as early as possible following the diagnosis of hoFH with very high LDL-C levels. With the same genotype, the phenotype of hoFH can exhibit similar patterns but outcome is substantially related to treatment.
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Authors | Matthias Galiano, Johanna Hammersen, Katja Sauerstein, Holger Blessing, Petra Rümmele, Ariawan Purbojo, Martin Schöber, Julia Moosmann, Gunter Raffelsbauer, Andreas Heibges, Reinhard Klingel |
Journal | Journal of clinical apheresis
(J Clin Apher)
Vol. 35
Issue 3
Pg. 163-171
(Jun 2020)
ISSN: 1098-1101 [Electronic] United States |
PMID | 32163632
(Publication Type: Journal Article)
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Copyright | © 2020 Wiley Periodicals, Inc. |
Chemical References |
- Cholesterol, LDL
- Lipids
- Lipoproteins
- PCSK9 protein, human
- Proprotein Convertase 9
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Topics |
- Adult
- Aorta
(pathology)
- Aortic Valve
(physiopathology)
- Biopsy
- Blood Component Removal
(methods)
- Case-Control Studies
- Child
- Child, Preschool
- Cholesterol, LDL
(blood)
- Echocardiography
- Family Health
- Female
- Genotype
- Homozygote
- Humans
- Hyperlipoproteinemia Type II
(genetics, therapy)
- Lipids
(blood)
- Lipoproteins
(therapeutic use)
- Male
- Phenotype
- Proprotein Convertase 9
(metabolism)
- Retrospective Studies
- Siblings
- Xanthomatosis
(complications)
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