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Journal of Inherited Metabolic Disease

Erschienen in:

01.03.2014 | Original Article

Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening

verfasst von: Jan Rasmussen, Lars Køber, Allan M. Lund, Olav W. Nielsen

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 2/2014

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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.

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Titel: Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening
verfasst von: Jan Rasmussen
Lars Køber
Allan M. Lund
Olav W. Nielsen
Publikationsdatum: 01.03.2014
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 2/2014
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-013-9640-0

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Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening

Abstract

Background

Methods

Results

Conclusion

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