Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview
Familial hypercholesterolemia is a genetic disorder of lipid management, especially LDL-C. It's inherited autosomal dominant in most cases. The illness is characterized by high, low-density lipoprotein cholesterol (LDL-C) levels. According to many researchers, the frequency of prevalence is es...
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Nicolaus Copernicus University in Toruń
2025-02-01
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| Series: | Quality in Sport |
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| Online Access: | https://apcz.umk.pl/QS/article/view/57811 |
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| author | Maciej Rutkiewicz Sabina Przygodzka Katarzyna Gadżała Karolina Garbino Katarzyna Brudniak Antoni Szuścik Magdalena Czyczerska |
| author_facet | Maciej Rutkiewicz Sabina Przygodzka Katarzyna Gadżała Karolina Garbino Katarzyna Brudniak Antoni Szuścik Magdalena Czyczerska |
| author_sort | Maciej Rutkiewicz |
| collection | DOAJ |
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Familial hypercholesterolemia is a genetic disorder of lipid management, especially LDL-C. It's inherited autosomal dominant in most cases. The illness is characterized by high, low-density lipoprotein cholesterol (LDL-C) levels. According to many researchers, the frequency of prevalence is estimated at 1:200 in the global population. Many studies showed that illness is underdiagnosed and therefore undertreated. There are three known genes coding three different proteins, and changes are in charge of wrong lipid management. These are: LDL-Receptor (LDLR), Apolipoprotein B (ApoB), and Proprotein convertase subtilisin/kexin 9 (PCSK9). People who are affected by mutation have around thirteen times higher risk of coronary artery disease (CAD) and, in order to that, premature death. Identifying sickness includes a physical examination, when we can observe xanthomas, corneal arcus, or xanthomata, and scales that focus on the patient's as well as his family's past. A definite diagnosis can be approved by genetic testing, which shows a causable mutation.
The main goal in treatment therapy of familial hypercholesterolemia is to reduce the concentration of LDL-C in serum. First of all, patients should know what to do to reduce LDL-C levels. Education is critical for understanding the problem and creating a successful course. Moreover, it is necessary to quit smoking, increase physical activity, and reduce cholesterol, elevating products from diet such as saturated fats and alcohol. Weight reduction is recommended. In addition, pharmacological treatment must be performed. All individuals have statins implemented. In most cases, one drug isn't enough, so therapy containing ezetimib is common. Novel treatments, including monoclonal antibodies (mAb), antisense oligonucleotides (ASO), and PCSK9- inhibitors nowadays, are used with greater frequency and better results, providing higher efficiency in achieving targets.
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| format | Article |
| id | doaj-art-2b6365949c01468180e8d4b8fd0be7ea |
| institution | Kabale University |
| issn | 2450-3118 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Nicolaus Copernicus University in Toruń |
| record_format | Article |
| series | Quality in Sport |
| spelling | doaj-art-2b6365949c01468180e8d4b8fd0be7ea2025-02-06T08:24:41ZengNicolaus Copernicus University in ToruńQuality in Sport2450-31182025-02-013810.12775/QS.2025.38.57811Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature OverviewMaciej Rutkiewicz0https://orcid.org/0009-0007-7249-0490Sabina Przygodzka1https://orcid.org/0009-0002-0865-9451Katarzyna Gadżała2https://orcid.org/0009-0005-4863-6045Karolina Garbino3https://orcid.org/0000-0002-2846-6035Katarzyna Brudniak4https://orcid.org/0009-0001-1878-5294Antoni Szuścik5https://orcid.org/0009-0001-2780-8208Magdalena Czyczerska6https://orcid.org/0009-0001-1579-2501Lower Silesian Center of Oncology, Pulmonology and Haematology, Plac Ludwika Hirszfelda 19, 53-413 WrocławT. Marciniak Hospital in Wroclaw, gen. Augusta Emila Fieldorfa 2, 54-049 Wroclaw, PolandWroclaw Medical University, wybrzeże Ludwika Pasteura 1, 50-367 Wrocław4. Military Clinical Hospital with Policlinic in Wroclaw, Weigla Street 5, 53-114 Wrocław, Poland University of Opole, plac Kopernika 11A, 45-040 OpoleUniversity of Opole, plac Kopernika 11A, 45-040 OpoleUniversity of Opole, plac Kopernika 11A, 45-040 Opole Familial hypercholesterolemia is a genetic disorder of lipid management, especially LDL-C. It's inherited autosomal dominant in most cases. The illness is characterized by high, low-density lipoprotein cholesterol (LDL-C) levels. According to many researchers, the frequency of prevalence is estimated at 1:200 in the global population. Many studies showed that illness is underdiagnosed and therefore undertreated. There are three known genes coding three different proteins, and changes are in charge of wrong lipid management. These are: LDL-Receptor (LDLR), Apolipoprotein B (ApoB), and Proprotein convertase subtilisin/kexin 9 (PCSK9). People who are affected by mutation have around thirteen times higher risk of coronary artery disease (CAD) and, in order to that, premature death. Identifying sickness includes a physical examination, when we can observe xanthomas, corneal arcus, or xanthomata, and scales that focus on the patient's as well as his family's past. A definite diagnosis can be approved by genetic testing, which shows a causable mutation. The main goal in treatment therapy of familial hypercholesterolemia is to reduce the concentration of LDL-C in serum. First of all, patients should know what to do to reduce LDL-C levels. Education is critical for understanding the problem and creating a successful course. Moreover, it is necessary to quit smoking, increase physical activity, and reduce cholesterol, elevating products from diet such as saturated fats and alcohol. Weight reduction is recommended. In addition, pharmacological treatment must be performed. All individuals have statins implemented. In most cases, one drug isn't enough, so therapy containing ezetimib is common. Novel treatments, including monoclonal antibodies (mAb), antisense oligonucleotides (ASO), and PCSK9- inhibitors nowadays, are used with greater frequency and better results, providing higher efficiency in achieving targets. https://apcz.umk.pl/QS/article/view/57811familial hypercholesterolemiaPCSK9 inhibitorsstatinsLDL ReceptorLDL-Ccholesterol-reducing therapy |
| spellingShingle | Maciej Rutkiewicz Sabina Przygodzka Katarzyna Gadżała Karolina Garbino Katarzyna Brudniak Antoni Szuścik Magdalena Czyczerska Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview Quality in Sport familial hypercholesterolemia PCSK9 inhibitors statins LDL Receptor LDL-C cholesterol-reducing therapy |
| title | Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview |
| title_full | Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview |
| title_fullStr | Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview |
| title_full_unstemmed | Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview |
| title_short | Familial Hypercholesterolemia: Genetics, Symptoms, Diagnosis and Treatment - A Literature Overview |
| title_sort | familial hypercholesterolemia genetics symptoms diagnosis and treatment a literature overview |
| topic | familial hypercholesterolemia PCSK9 inhibitors statins LDL Receptor LDL-C cholesterol-reducing therapy |
| url | https://apcz.umk.pl/QS/article/view/57811 |
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