A 46-year-old woman with homozygous familial hypercholesterolemia was referred due to aortic regurgitation. The patient was introduced selective low density lipoprotein cholesterol(LDL)apheresis 20 years ago. Echocardiogram revealed severe aortic regurgitation, and computed tomography revealed thoracoabdominal aortic aneurysm. We considered 2 staged operations were necessitated. Firstly, aortic valve replacement was performed. Emergent coronary artery bypass grafting was also done because intraoperative myocardial ischemia was strongly suspected from left ventricular hypokinesis. One year later, replacement of thoracoabdominal aorta was performed. Post-operative course was uneventful and the patient was discharged at post-operative day 21. The patients with homozygous familial hypercholesterolemia must be strictly followed up because systemic atherosclerosis frequently exacerbates despite selective LDL apheresis.
Download full-text PDF |
Source |
---|
Curr Atheroscler Rep
January 2025
Carbohydrate and Lipid Metabolism Research Unit, Department of Medicine, University of the Witwatersrand, Johannesburg, South Africa.
Purpose Of Review: Homozygous familial hypercholesterolaemia (HoFH) is characterized by marked elevation of low-density lipoprotein cholesterol (LDLC) and premature atherosclerotic cardiovascular disease. This is a review of novel pharmacological therapies to lower LDLC in patients with HoFH.
Recent Findings: Novel therapies can be broadly divided by whether their efficacy is dependent or independent of residual low-density lipoprotein receptor (LDLR) function.
Calcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA.
Background: Multiple AD risk genes are implicated in lipid metabolism, and plasma and brain lipid levels are altered in AD. Astrocytes are enriched in key lipid-related factors and are likely contributors to altered lipid homeostasis in AD. We hypothesize that APP/Aβ-related pathology and neuroimmune factors modulate astrocytic gene transcription that promote maladaptive changes in lipid pathways, including aberrant astrocytic production and release of lipids that could affect Aβ pathology and neuronal deficits.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
John P. Hussman Institute for Human Genomics, Miller School of Medicine, Miami, FL, USA.
Background: We identified the missense variant Ser1038Cys (rs377155188) in the tetratricopeptide repeat domain 3 (TTC3) gene that segregate in a non-Hispanic white late onset Alzheimer disease (LOAD) family. This variant is predicted to be deleterious and extremely rare (MAF<0.01%).
View Article and Find Full Text PDFAlzheimers Dement
December 2024
University of California Los Angeles, Los Angeles, CA, USA.
Background: Epileptic activity is increasingly recognized as a contributor to Alzheimer's Disease (AD) pathology. In AD models, endogenous tau contributes to epileptic activity and associated cognitive deficits through mechanisms that are not fully understood. Increased attention is being directed towards tau's interactions with proteins that regulate neuronal activity, particularly tau's proline rich domain and its binding to SH3-containing proteins.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!