Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report
Abstract Background Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevated serum low-density lipoprotein cholesterol levels, tendon xanthomas, and an increased risk of atherosclerotic heart disease. Diagnosing familial hypercholesterolemia at an early age is crucia...
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BMC
2025-02-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-025-05070-z |
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| author | Anjuman Ara Rahman Abhijit Datta Kamal Uddin Ahmed Anindita Das Barshan Mohammad Jahid Hasan |
| author_facet | Anjuman Ara Rahman Abhijit Datta Kamal Uddin Ahmed Anindita Das Barshan Mohammad Jahid Hasan |
| author_sort | Anjuman Ara Rahman |
| collection | DOAJ |
| description | Abstract Background Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevated serum low-density lipoprotein cholesterol levels, tendon xanthomas, and an increased risk of atherosclerotic heart disease. Diagnosing familial hypercholesterolemia at an early age is crucial owing to its potential to lead to severe cardiovascular complications, including coronary heart disease and aortic valve disease. Early detection allows timely intervention, such as lifestyle modifications and pharmacological treatments, which can significantly reduce these risks. Case presentation In this case report, we present a case of familial hypercholesterolemia in a 13-year-old Bangladeshi girl residing in Faridpur, Bangladesh. The patient presented with a distinctive clinical profile, including the presence of tendon xanthoma in the hands and cutaneous xanthoma in the elbow, knee, and buttocks, as well as recent development of aortic valvular diseases. In addition, she experienced joint deformity in both hands, mimicking rheumatoid arthritis, which is uncommon. The patient was diagnosed and underwent treatment through both lifestyle changes and medication. Moreover, her family received genetic counseling, and she was scheduled for regular follow-up. Conclusion This case underscores the significance of identifying important physical signs in the diagnosis and management of familial hypercholesterolemia, particularly in settings where genetic testing may be limited. Moreover, the unique coexistence of familial hypercholesterolemia with hand joint deformity and aortic valvular heart disease serves as a clinical clue that can facilitate diagnosis and appropriate therapeutic interventions. A high index of suspicion is essential for timely diagnosis and tailored management, thus reducing the burden of atherosclerotic heart disease in affected individuals. |
| format | Article |
| id | doaj-art-350be81cde134539a90befa078a01133 |
| institution | Kabale University |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-350be81cde134539a90befa078a011332025-02-09T12:38:37ZengBMCJournal of Medical Case Reports1752-19472025-02-011911510.1186/s13256-025-05070-zRheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case reportAnjuman Ara Rahman0Abhijit Datta1Kamal Uddin Ahmed2Anindita Das Barshan3Mohammad Jahid Hasan4Bangabandhu Sheikh Mujib Medical College HospitalBangabandhu Sheikh Mujib Medical College HospitalDepartment of Cardiology, Bangabandhu Sheikh Mujib Medical College HospitalTropical Disease and Health Research CenterTropical Disease and Health Research CenterAbstract Background Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevated serum low-density lipoprotein cholesterol levels, tendon xanthomas, and an increased risk of atherosclerotic heart disease. Diagnosing familial hypercholesterolemia at an early age is crucial owing to its potential to lead to severe cardiovascular complications, including coronary heart disease and aortic valve disease. Early detection allows timely intervention, such as lifestyle modifications and pharmacological treatments, which can significantly reduce these risks. Case presentation In this case report, we present a case of familial hypercholesterolemia in a 13-year-old Bangladeshi girl residing in Faridpur, Bangladesh. The patient presented with a distinctive clinical profile, including the presence of tendon xanthoma in the hands and cutaneous xanthoma in the elbow, knee, and buttocks, as well as recent development of aortic valvular diseases. In addition, she experienced joint deformity in both hands, mimicking rheumatoid arthritis, which is uncommon. The patient was diagnosed and underwent treatment through both lifestyle changes and medication. Moreover, her family received genetic counseling, and she was scheduled for regular follow-up. Conclusion This case underscores the significance of identifying important physical signs in the diagnosis and management of familial hypercholesterolemia, particularly in settings where genetic testing may be limited. Moreover, the unique coexistence of familial hypercholesterolemia with hand joint deformity and aortic valvular heart disease serves as a clinical clue that can facilitate diagnosis and appropriate therapeutic interventions. A high index of suspicion is essential for timely diagnosis and tailored management, thus reducing the burden of atherosclerotic heart disease in affected individuals.https://doi.org/10.1186/s13256-025-05070-zFamilial hypercholesterolemiaCase reportAutosomal dominant disorderTendon xanthomaAortic valve disease |
| spellingShingle | Anjuman Ara Rahman Abhijit Datta Kamal Uddin Ahmed Anindita Das Barshan Mohammad Jahid Hasan Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report Journal of Medical Case Reports Familial hypercholesterolemia Case report Autosomal dominant disorder Tendon xanthoma Aortic valve disease |
| title | Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report |
| title_full | Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report |
| title_fullStr | Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report |
| title_full_unstemmed | Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report |
| title_short | Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report |
| title_sort | rheumatoid like hand deformities and aortic valve disease in a 13 year old girl with homozygous familial hypercholesterolemia a case report |
| topic | Familial hypercholesterolemia Case report Autosomal dominant disorder Tendon xanthoma Aortic valve disease |
| url | https://doi.org/10.1186/s13256-025-05070-z |
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