Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening
Abstract Background Carnitine deficiency can cause cardiomyopathy and cardiac arrhythmia. The prevalence in the Faroe Islands is the highest reported in the world (1:300). A nationwide screening program identified 76 Faroese adult patients (15–80 years) with Primary Carnitine Deficiency (PCD). We de...
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crwiley:10.1007/s10545-013-9640-0 2024-09-15T18:05:36+00:00 Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening Rasmussen, Jan Køber, Lars Lund, Allan M. Nielsen, Olav W. 2013 http://dx.doi.org/10.1007/s10545-013-9640-0 https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-013-9640-0 en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Journal of Inherited Metabolic Disease volume 37, issue 2, page 223-230 ISSN 0141-8955 1573-2665 journal-article 2013 crwiley https://doi.org/10.1007/s10545-013-9640-0 2024-07-04T04:29:59Z Abstract Background Carnitine deficiency can cause cardiomyopathy and cardiac arrhythmia. The prevalence in the Faroe Islands is the highest reported in the world (1:300). A nationwide screening program identified 76 Faroese adult patients (15–80 years) with Primary Carnitine Deficiency (PCD). We describe prior and current health status and symptoms in these patients, especially focusing on cardiac characteristics. Methods Upon identification, patients were immediately admitted for physical examination, ECG, blood tests and initiation of L‐carnitine supplementation. Medical records were reviewed and patients were interviewed. Echocardiography and blood tests were performed in 35 patients before and after L‐carnitine supplementation. Results All patients were either asymptomatic or had minor symptoms when diagnosed. Echocardiography including LVEF, global longitudinal strain and dimensions were normal apart from left ventricular hypertrophy with normal systolic function in one young male. Symptoms, e.g. fatigue, were reported in 43 % with a reduction to 12 % ( p < 0.01) following initiation of L‐carnitine supplementation. Eighty two % reported participation in sports of which 52 % were on a competitive level. ECGs showed limited changes and blood tests were normal. Mean plasma free carnitine increased from 6.1 μmol/L to 15.1 μmol/L ( p < 0.01) within 50 days of L‐carnitine supplementation. Conclusion PCD in adults can cause serious symptoms, but adult Faroese patients identified through a screening program were predominantly asymptomatic with a normal cardiac structure and function. Article in Journal/Newspaper Faroe Islands Wiley Online Library Journal of Inherited Metabolic Disease 37 2 223 230 |
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Abstract Background Carnitine deficiency can cause cardiomyopathy and cardiac arrhythmia. The prevalence in the Faroe Islands is the highest reported in the world (1:300). A nationwide screening program identified 76 Faroese adult patients (15–80 years) with Primary Carnitine Deficiency (PCD). We describe prior and current health status and symptoms in these patients, especially focusing on cardiac characteristics. Methods Upon identification, patients were immediately admitted for physical examination, ECG, blood tests and initiation of L‐carnitine supplementation. Medical records were reviewed and patients were interviewed. Echocardiography and blood tests were performed in 35 patients before and after L‐carnitine supplementation. Results All patients were either asymptomatic or had minor symptoms when diagnosed. Echocardiography including LVEF, global longitudinal strain and dimensions were normal apart from left ventricular hypertrophy with normal systolic function in one young male. Symptoms, e.g. fatigue, were reported in 43 % with a reduction to 12 % ( p < 0.01) following initiation of L‐carnitine supplementation. Eighty two % reported participation in sports of which 52 % were on a competitive level. ECGs showed limited changes and blood tests were normal. Mean plasma free carnitine increased from 6.1 μmol/L to 15.1 μmol/L ( p < 0.01) within 50 days of L‐carnitine supplementation. Conclusion PCD in adults can cause serious symptoms, but adult Faroese patients identified through a screening program were predominantly asymptomatic with a normal cardiac structure and function. |
format |
Article in Journal/Newspaper |
author |
Rasmussen, Jan Køber, Lars Lund, Allan M. Nielsen, Olav W. |
spellingShingle |
Rasmussen, Jan Køber, Lars Lund, Allan M. Nielsen, Olav W. Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening |
author_facet |
Rasmussen, Jan Køber, Lars Lund, Allan M. Nielsen, Olav W. |
author_sort |
Rasmussen, Jan |
title |
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening |
title_short |
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening |
title_full |
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening |
title_fullStr |
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening |
title_full_unstemmed |
Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening |
title_sort |
primary carnitine deficiency in the faroe islands: health and cardiac status in 76 adult patients diagnosed by screening |
publisher |
Wiley |
publishDate |
2013 |
url |
http://dx.doi.org/10.1007/s10545-013-9640-0 https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-013-9640-0 |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_source |
Journal of Inherited Metabolic Disease volume 37, issue 2, page 223-230 ISSN 0141-8955 1573-2665 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1007/s10545-013-9640-0 |
container_title |
Journal of Inherited Metabolic Disease |
container_volume |
37 |
container_issue |
2 |
container_start_page |
223 |
op_container_end_page |
230 |
_version_ |
1810443140845273088 |