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

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

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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Conflict of interest

None.

Compliance with Ethics Guidelines

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Proof that informed consent was obtained is available upon request.

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Authors and Affiliations

  1. Department of Internal Medicine, National Hospital, FO-100, Thorshavn, the Faroe Islands

    Jan Rasmussen

  2. Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

    Lars Køber

  3. Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

    Allan M. Lund

  4. Department of Cardiology, Bispebjerg University Hospital, Copenhagen, Denmark

    Olav W. Nielsen

Authors
  1. Jan Rasmussen
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  2. Lars Køber
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  3. Allan M. Lund
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  4. Olav W. Nielsen
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Corresponding author

Correspondence to Jan Rasmussen.

Additional information

Communicated by: Georg Hoffmann

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Rasmussen, J., Køber, L., Lund, A.M. et al. Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening. J Inherit Metab Dis 37, 223–230 (2014). https://doi.org/10.1007/s10545-013-9640-0

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  • DOI: https://doi.org/10.1007/s10545-013-9640-0

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