We present the first case in Switzerland of a patient with homozygous familial hypercholesterolaemia treated with evinacumab, a new recombinant human monoclonal antibody currently approved in Europe and in the USA but not yet in Switzerland. Homozygous familial hypercholesterolaemia is a rare genetic disorder that causes severely elevated levels of low-density lipoprotein (LDL) cholesterol and early atherosclerotic cardiovascular disease, which, if left untreated, can lead to premature death. As a result of this newly introduced treatment, the patient's LDL cholesterol levels were reduced by more than half, achieving recommended target values of secondary prevention for the first time. This case underscores the efficacy of evinacumab in achieving LDL cholesterol targets in homozygous familial hypercholesterolaemia patients and highlights the importance of early identification and treatment initiation.
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http://dx.doi.org/10.57187/s.4024 | DOI Listing |
Eur J Immunol
March 2025
Department of Immunology, Assistance Publique- Hôpitaux de Paris (AP-HP), Georges Pompidou European Hospital, Paris, France.
Inborn deficiencies of the alternative pathway (AP) of the complement system have been associated with life-threatening infections, mainly by encapsulated bacteria. Complete factor D (FD) deficiencies have been reported in only seven families in the literature. We report two new cases of biochemically and genetically confirmed complete FD deficiency, including the first in a Down syndrome patient.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
March 2025
Department of Endocrinology, Central Hospital of Dalian University of Technology, Dalian, China.
Introduction: Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder caused by an inactivating mutation in the gene, while Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder resulting from a pathogenic mutation in the gene. Both genetic disorders are relatively rare. This report presents a patient with both FHH and GS, exhibiting unique clinical and genetic complexities.
View Article and Find Full Text PDFEur J Endocrinol
March 2025
Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London, London, UK.
Objective: Heterozygous germline loss-of-function variants in AIP are associated with young-onset growth hormone and/or prolactin-secreting pituitary tumours. However, the pathogenic role of the c.911G>A; p.
View Article and Find Full Text PDFAnn Hum Genet
March 2025
Department of Genetics, Post Graduate Institute of Basic Medical Sciences, University of Madras (Taramani Campus), Chennai, Tamil Nadu, India.
In recent years, numerous genetic variants have been linked with prelingual hearing loss (HL). Variants in the LOXHD1 gene (lipoxygenase homology domain-1) associated with DFNB77 are highly heterogeneous, with different auditory characteristics varying from stable to progressive and mild to profound. To date, 168 DFNB77 cases have been recorded worldwide.
View Article and Find Full Text PDFItal J Pediatr
March 2025
Hefei Women and Children Health Center, Hefei, 230092, China.
Background: Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in the SLC22A5 gene, with its prevalence and the spectrum of mutations in SLC22A5 varying across races and regions. This study aimed to analyze the clinical and genetic characteristics of PCD patients, including newborns and their mothers, identified by newborn screening (NBS) in Hefei, China.
Methods: The dried blood spot samples from newborns were analyzed using tandem mass spectrometry (MS/MS) from July 2015 to December 2024.
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