Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report.

Authors: Rahman, Anjuman Ara¹ (AUTHOR) anjumanara.rahman@bsmmc.edu.bd, Datta, Abhijit¹ (AUTHOR) adatta328@gmail.com, Ahmed, Kamal Uddin² (AUTHOR) kamal.k50dmc@gmail.com, Das Barshan, Anindita³ (AUTHOR) aninditabarshan02@gmail.com, Hasan, Mohammad Jahid^3,4 (AUTHOR) dr.jahid61@gmail.com

Source: Journal of Medical Case Reports. 2/4/2025, Vol. 19 Issue 1, p1-5. 5p.

Subject Terms: *HOMOZYGOUS familial hypercholesterolemia, *AORTIC valve diseases, *CORONARY artery disease, *HEART valve diseases, *FAMILIAL hypercholesterolemia

Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience.

Authors: Zhan, Hao-Su^1,2,3 (AUTHOR), Wei, Lin^2,3,4 (AUTHOR), Qu, Wei^2,3,4 (AUTHOR), Zeng, Zhi-Gui^2,3,4 (AUTHOR), Liu, Ying^1,2,3,4 (AUTHOR), Tan, Yu-Le^2,3 (AUTHOR), Wang, Jun^2,3 (AUTHOR), Zhang, Liang^2,3,5 (AUTHOR), He, En-Hui^2,3,6 (AUTHOR), Zhou, Guang-Peng^2,3,4 (AUTHOR), Zhang, Hai-Ming^2,3,4 (AUTHOR), Zhu, Zhi-Jun^2,3,4 (AUTHOR) zhu-zhijun@outlook.com, Sun, Li-Ying^1,2,3,4 (AUTHOR) sunxlx@outlook.com

Source: Orphanet Journal of Rare Diseases. 1/15/2025, Vol. 20 Issue 1, p1-9. 9p.

Subject Terms: *FAMILIAL hypercholesterolemia, *HOMOZYGOUS familial hypercholesterolemia, *PROGNOSIS, *MEDICAL sciences, *BLOOD cholesterol

Genetic screening of malay familial hypercholesterolemia patient for LDLRAP1/PCSK9/APOB mutations via whole exome sequencing.

Authors: Abdullah-Zawawi, Muhammad-Redha¹ (AUTHOR), Mohd Rani, Zam Zureena¹ (AUTHOR), Seeni Ahamed Mydeen, Nur Syakeera¹ (AUTHOR), Mohd Yunos, Ryia Illani¹ (AUTHOR), Sulaiman, Siti Aishah¹ (AUTHOR), Badaruddin, Izzatul 'Aliaa² (AUTHOR), Ismet, Rose³ (AUTHOR), Mustafa, Norlaila⁴ (AUTHOR), Abu Zahid, Syahidatun Najwa¹ (AUTHOR), Jamal, Rahman¹ (AUTHOR), Hamzah, Azrul Azlan⁵ (AUTHOR), Abdul Murad, Nor Azian¹ (AUTHOR) nor_azian@ppukm.ukm.edu.my

Source: Egyptian Journal of Medical Human Genetics. 3/3/2025, Vol. 26 Issue 1, p1-16. 16p.

Subject Terms: *LDL cholesterol, *FAMILIAL hypercholesterolemia, *PROTEIN structure, *GENETIC testing, *HEREDITY

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Authors: Huang, Meng-Na¹ (AUTHOR), Wang, Chen-Cen^1,2 (AUTHOR), Ma, Ming-Sheng³ (AUTHOR), Chi, Mei-Zhu⁴ (AUTHOR), Zhou, Qing⁵ (AUTHOR), Jiang, Li-Hong⁶ (AUTHOR), Wang, Chun-Lin⁷ (AUTHOR), Lu, Mei⁸ (AUTHOR), Chen, Xiao-Quan⁹ (AUTHOR), Cheng, Ya-Ying¹⁰ (AUTHOR), Ke, Qing¹¹ (AUTHOR), Wang, Da-Yan¹² (AUTHOR), Qian, Xiao-Xia¹³ (AUTHOR), Ying, Xiao-Ming¹⁴ (AUTHOR), Zhang, Jian-Ping¹⁵ (AUTHOR), Shen, Qun-Hua¹⁶ (AUTHOR), Liu, Li-Fang¹⁷ (AUTHOR), Gu, Rui^1,18 (AUTHOR), Zhang, Zhen-Jie³ (AUTHOR), Feng, Jian-Hua⁹ (AUTHOR)

Source: Lipids in Health & Disease. 12/27/2024, Vol. 23 Issue 1, p1-18. 18p.

Subject Terms: *LDL cholesterol, *FAMILIAL hypercholesterolemia, *GENETIC testing, *HOMOZYGOUS familial hypercholesterolemia, *CHINESE people

Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.

Authors: Chamoieva, Ayaulym E.¹ (AUTHOR), Mirmanova, Zhanel Z.¹ (AUTHOR), Zhalbinova, Madina R.¹ (AUTHOR), Rakhimova, Saule E.^1,2 (AUTHOR), Daniyarov, Asset Z.^1,3 (AUTHOR), Kairov, Ulykbek Y.^1,2 (AUTHOR) ulykbek.kairov@nu.edu.kz, Baigalkanova, Almira I.⁴ (AUTHOR), Mukarov, Murat A.⁴ (AUTHOR), Bekbossynova, Makhabbat S.⁴ (AUTHOR), Akilzhanova, Ainur R.^1,2,3 (AUTHOR) ulykbek.kairov@nu.edu.kz

Source: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p11882. 11p.

Subject Terms: *FAMILIAL hypercholesterolemia, *HOMOZYGOUS familial hypercholesterolemia, *MEDICAL personnel, *GENETIC disorder diagnosis, *LDL cholesterol, *GENETIC mutation

Determination of selected oxysterol levels, oxidative stress, and macrophage activation indicators in children and adolescents with familial hypercholesterolemia.

Authors: Canbay, Erhan¹ (AUTHOR) erhancanbay87@gmail.com, Canda, Ebru² (AUTHOR), Yazıcı, Havva² (AUTHOR), Kasıkcı, Gulcin Kayan³ (AUTHOR), Durmaz, Burak^1,4 (AUTHOR), Copur, Oznur^1,5 (AUTHOR), Tahhan, Begüm¹ (AUTHOR), Düzgün, Dilek⁶ (AUTHOR), Koru, Zeynep Elçim⁶ (AUTHOR), Sezer, Ebru¹ (AUTHOR), Aydın, Derya³ (AUTHOR), Levent, Resit Erturk³ (AUTHOR), Ucar, Sema Kalkan² (AUTHOR), Coker, Mahmut² (AUTHOR), Sozmen, Eser Yıldırım⁷ (AUTHOR)

Source: Lipids in Health & Disease. 11/13/2024, Vol. 23 Issue 1, p1-16. 16p.

Subject Terms: *CAROTID intima-media thickness, *HETEROZYGOUS familial hypercholesterolemia, *FAMILIAL hypercholesterolemia, *LOW density lipoprotein receptors, *MACROPHAGE activation

Long-term effectiveness and safety of lomitapide in patients with homozygous familial hypercholesterolemia: an observational case series.

Authors: Suppressa, Patrizia¹ (AUTHOR) patrizia.suppressa@gmail.com, Coppola, Chiara¹ (AUTHOR), Cocco, Veronica¹ (AUTHOR), O'Brien, Sallyann² (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 10/8/2024, Vol. 19 Issue 1, p1-12. 12p.

Subject Terms: *FAMILIAL hypercholesterolemia, *HOMOZYGOUS familial hypercholesterolemia, *HDL cholesterol, *LDL cholesterol, *CLINICAL trials

The Emerging Role of PCSK9 in the Pathogenesis of Alzheimer's Disease: A Possible Target for the Disease Treatment.

Authors: Testa, Gabriella¹ (AUTHOR) gabriella.testa@unito.it, Giannelli, Serena^1,2 (AUTHOR) serena.giannelli@unito.it, Staurenghi, Erica¹ (AUTHOR) erica.staurenghi@unito.it, Cecci, Rebecca¹ (AUTHOR) rebecca.cecci@unito.it, Floro, Lucrezia¹ (AUTHOR) lucrezia.floro@unito.it, Gamba, Paola¹ (AUTHOR) paola.gamba@unito.it, Sottero, Barbara¹ (AUTHOR) barbara.sottero@unito.it, Leonarduzzi, Gabriella¹ (AUTHOR)

Source: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 24, p13637. 27p.

Subject Terms: *FAMILIAL hypercholesterolemia, *ALZHEIMER'S disease, *BLOOD lipoproteins, *LOW density lipoprotein receptors, *LOW density lipoproteins

Review of p.(Val429Met), a Variant of LDLR That Is Associated with Familial Hypercholesterolemia.

Authors: Jotch, Eric F.^1,2 (AUTHOR) ejotch@usf.edu, Kindy, Mark S.^3,4 (AUTHOR) kindym@usf.edu

Source: Cardiogenetics. Dec2024, Vol. 14 Issue 4, p170-182. 13p.

Subject Terms: *FAMILIAL hypercholesterolemia, *LDL cholesterol, *LIPOPROTEIN receptors, *GENETIC testing, *PROTEIN receptors

Exploring LDLR-APOB Interactions in Familial Hypercholesterolemia in the Vietnamese Population: A Protein-Protein Docking Approach.

Authors: Kim, Ngoc-Thanh^1,2 (AUTHOR), Do, Doan-Loi^1,2 (AUTHOR), Nguyen, Mai-Ngoc Thi² (AUTHOR), Le, Hong-An² (AUTHOR), Le, Thanh-Tung² (AUTHOR), Truong, Thanh-Huong³ (AUTHOR) huong.truongthanh@phenikaa-uni.edu.vn

Source: Bioinformatics & Biology Insights. 11/28/2024, p1-13. 13p.

Subject Terms: *VIETNAMESE people, *FAMILIAL hypercholesterolemia, *LIPOPROTEIN receptors, *APOLIPOPROTEIN B, *PROTEIN structure

Hipercolesterolemia familiar: un enemigo oculto desde la infancia, ¿olvidado o infrecuente?

Alternate Title: Familial hypercholesterolemia: A hidden enemy from childhood, ¿forgotten or infrequent?

Authors: Granados Pérez, José Vicente¹, Lopera Cañaveral, María Victoria², Correa Saldarriaga, Johana³, Tirado Pérez, Irina Suley⁴ irinasuley@gmail.com

Source: Acta Pediatrica de Mexico. Nov/Dec2024, Vol. 45 Issue 6, p632-637. 6p.

Subject Terms: *FAMILIAL hypercholesterolemia, *GENETIC disorders, *CARDIOVASCULAR diseases, *LOW density lipoprotein receptors, *LOW density lipoproteins, *GRANDPARENTS

Case report of familial hypercholesterolemia with internal carotid neck swelling.

Authors: Kumar, Sudesh¹ (AUTHOR) sudeshrekha65@gmail.com, Ray, Prajna¹ (AUTHOR), Sahana, Ranita¹ (AUTHOR)

Source: Journal of Family Medicine & Primary Care. Jan2025, Vol. 14 Issue 1, p484-486. 3p.

Subject Terms: *LDL cholesterol, *FAMILIAL hypercholesterolemia, *GENETIC disorders, *CORONARY disease, *CORONARY artery disease

PCSK9 inhibitors on the management of primary and secondary cardiovascular prevention.

Authors: Marco-Benedí, Victoria^1,2 (AUTHOR) vmarcobenedi@gmail.com, Sánchez-Hernández, Rosa M.³ (AUTHOR), Díaz, José Luis⁴ (AUTHOR), Jarauta, Estíbaliz^1,2 (AUTHOR), Suárez-Tembra, Manuel⁵ (AUTHOR), Pintó, Xavier⁶ (AUTHOR), Morillas, Carlos⁷ (AUTHOR), Plana, Núria⁸ (AUTHOR), Pedro-Botet, Juan⁹ (AUTHOR), Civeira, Fernando^1,2 (AUTHOR) civeira@unizar.es

Source: Lipids in Health & Disease. 9/10/2024, Vol. 23 Issue 1, p1-10. 10p.

Subject Terms: *FAMILIAL hypercholesterolemia, *SECONDARY prevention, *ANTILIPEMIC agents, *CARDIOVASCULAR diseases, *ODDS ratio

Evinacumab: Mechanism of action, clinical, and translational science.

Authors: Dingman, Robert¹ (AUTHOR) robert.dingman@regeneron.com, Bihorel, Sébastien¹ (AUTHOR), Gusarova, Viktoria¹ (AUTHOR), Mendell, Jeanne¹ (AUTHOR), Pordy, Robert¹ (AUTHOR)

Source: CTS: Clinical & Translational Science. Jun2024, Vol. 17 Issue 6, p1-9. 9p.

Subject Terms: *FAMILIAL hypercholesterolemia, *ANGIOPOIETIN-like proteins, *LIPOPROTEIN lipase, *HOMOZYGOUS familial hypercholesterolemia, *LDL cholesterol, *LOW density lipoproteins, *LIPOPROTEIN A

A machine-learning algorithm using claims data to identify patients with homozygous familial hypercholesterolemia.

Authors: Gu, Jing¹ (AUTHOR), Epland, Matthew² (AUTHOR), Ma, Xinshuo² (AUTHOR), Park, Jina² (AUTHOR), Sanchez, Robert J.¹ (AUTHOR) robert.sanchez@regeneron.com, Li, Ying¹ (AUTHOR)

Source: Scientific Reports. 4/17/2024, Vol. 14 Issue 1, p1-8. 8p.

Subject Terms: *FAMILIAL hypercholesterolemia, *HOMOZYGOUS familial hypercholesterolemia, *MACHINE learning, *RECEIVER operating characteristic curves

Geographic Terms: UNITED States

Yellow discoloration of the fingers due to golimumab with dermoscopic features: A brief literature review.

Authors: Ayhan, Erhan¹ (AUTHOR) magnetar21@hotmail.com, Yaşa, Mücahit¹ (AUTHOR)

Source: Journal of Cosmetic Dermatology. Oct2024, Vol. 23 Issue 10, p3418-3420. 3p.

Subject Terms: *FAMILIAL hypercholesterolemia, *ANTINEOPLASTIC agents, *PSYCHIATRIC drugs, *LUPUS erythematosus

LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia.

Authors: Deng, Jialing^1,2 (AUTHOR), Zhang, Ju^1,2 (AUTHOR), Meng, Shirui³ (AUTHOR), Ding, Nan^1,2 (AUTHOR), Hao, Yu^1,2 (AUTHOR), Zeng, Hui^1,2 (AUTHOR) zenghui@ccmu.edu.cn, Lin, Jie⁴ (AUTHOR) linjie1998@126.com

Source: Lipids in Health & Disease. 6/12/2024, Vol. 23 Issue 1, p1-8. 8p.

Subject Terms: *FAMILIAL hypercholesterolemia, *SYMPTOMS, *STATINS (Cardiovascular agents), *GENETIC disorders, *METABOLIC disorders

Algorithm for detection and screening of familial hypercholesterolemia in Lithuanian population.

Authors: Aliosaitiene, Urte^1,2 (AUTHOR) urte.gargalskaite@gmail.com, Petrulioniene, Zaneta^1,2 (AUTHOR), Rinkuniene, Egidija^1,2 (AUTHOR), Mainelis, Antanas³ (AUTHOR), Brazdziuniene, Egle² (AUTHOR), Smailyte, Urte¹ (AUTHOR), Sileikiene, Vaida^1,2 (AUTHOR), Laucevicius, Aleksandras^1,2 (AUTHOR)

Source: Lipids in Health & Disease. 5/7/2024, Vol. 23 Issue 1, p1-10. 10p.

Subject Terms: *FAMILIAL hypercholesterolemia, *MEDICAL screening, *LDL cholesterol, *CORONARY artery disease, *GENETIC testing, *CHILD patients

Geographic Terms: LITHUANIA

Variant Analysis in LDLR Gene Uncovers Genetic Basis of Familial Hypercholesterolemia: A Case Report.

Authors: DESHPANDE, TANMAY ULHAS¹, CHHEDA, PRATIKSHA RAKESH² pratiksha.chheda@rfhospital.org, DAMA, TAVISHA JAYANT³, SHIVAPRAKASH, KRISHNANAIK⁴, BHAMRE, BIPEENCHANDRA⁵

Source: Journal of Clinical & Diagnostic Research. May2024, Vol. 18 Issue 5, p1-4. 4p.

Subject Terms: *FAMILIAL hypercholesterolemia, *MEDICAL genetics, *APOLIPOPROTEIN E, *LDL cholesterol, *LIPOPROTEIN receptors, *GENETIC testing

Resilient Older Subjects with Heterozygous Familial Hypercholesterolemia, Baseline Differences and Associated Factors.

Authors: Climent, Elisenda¹ (AUTHOR) ecliment@psmar.cat, González-Guerrero, Antón² (AUTHOR) anton.gonzalez01@estudiant.upf.edu, Marco-Benedí, Victoria³ (AUTHOR) vmarcob@iisaragon.es, García-Andreu, María-del-Mar⁴ (AUTHOR) mariadelmargarciaandreu@gmail.com, Mediavilla-García, Juan Diego⁵ (AUTHOR) juand.mediavilla.sspa@juntadeandalucia.es, Suárez-Tembra, Manuel⁶ (AUTHOR) msuareztembra@gmail.com, Benaiges, David¹ (AUTHOR), Pintó, Xavier⁷ (AUTHOR) xpinto@bellvitgehospital.cat, Pedro-Botet, Juan¹ (AUTHOR)

Source: International Journal of Molecular Sciences. May2024, Vol. 25 Issue 9, p4831. 9p.

Subject Terms: *HETEROZYGOUS familial hypercholesterolemia, *HIGH density lipoproteins, *HDL cholesterol, *CARDIOVASCULAR diseases, *DYSLIPIDEMIA