Dramatic response to Evinacumab in a North Indian girl with homozygous familial hypercholesterolemia
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Sonali Arora
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Arun George
Abstract
Objectives
Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder of lipoprotein metabolism associated with significant morbidity and early mortality. The conventional management with lipid-lowering drugs and lipoprotein apheresis is unable to consistently achieve guidelines recommended low-density lipoprotein cholesterol (LDL-C). We aim to describe the efficacy of Evinacumab, a recently approved monoclonal antibody, in lowering LDL-C in an Indian girl with HoFH.
Case presentation
A 16-year-old girl was diagnosed with HoFH at age two years after the appearance of cutaneous and tendo-calcaneus xanthomas. Genetic testing revealed a pathogenic homozygous deletion in the LDL receptor (LDLR) gene. Despite lifestyle measures, a low-fat diet, and maximum doses of atorvastatin and ezetimibe, her average LDL-C level remained 320.3 mg/dL over the past decade. Her caregivers did not accept LDL-apheresis. She also did not respond to Evolocumab therapy. The patient developed progressive calcific aortic stenosis and concentric left ventricular hypertrophy, necessitating aortic valve replacement surgery at age 16 years. The recent addition of Evinacumab to her lipid-lowering drug regimen, resulted in a significant LDL-C reduction of 76.16 %, bringing levels down to 82 mg/dL. These levels were sustained over the last four months.
Conclusions
Evinacumab offers a promising option for managing high-risk and difficult-to-treat HoFH patients. This is the first Indian child receiving Evinacumab for HoFH.
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Research ethics: Not applicable.
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Informed consent: Informed consent was taken from the legal guardian.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: The data used in this report is available from the corresponding author upon reasonable request.
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© 2024 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Original Articles
- Thyroid surgery in pediatric age: a 10-year experience at a single center and literature review
- Differentiated thyroid cancer in adolescents – does extent of disease at presentation differ with age?
- Evaluation of iodine and selenium level and thyroid functions in patients with cystic fibrosis
- Interpreting positive celiac serology in children with new-onset type 1 diabetes
- Elastographic evaluation for fatty liver disease in north Indian children and adolescents with type 1 diabetes
- Diagnostic value of fasting insulin and insulin-like growth factor-1 levels in girls with central precocious puberty
- Clinical outcomes of switching to lonapegsomatropin from somatropin for treatment of pediatric growth hormone deficiency
- Development of a disease diagnostic model to predict the occurrence of central precocious puberty of female
- Adrenal hypoandrogenism in adolescents with premature ovarian insufficiency
- The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group
- Clinical and genetic diagnosis of first cohort of differences of sexual development in the Iranian population
- Short Communication
- Effect of a GnRH injection on kisspeptin levels in girls with suspected precocious puberty: a randomized-controlled pilot study
- Case Reports
- Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management
- Acrodermatitis dysmetabolica: lessons from two pediatric cases
- Dramatic response to Evinacumab in a North Indian girl with homozygous familial hypercholesterolemia
