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

TY - JOUR

T1 - Primary Carnitine deficiency in the Faroe Islands

T2 - health and cardiac status in 76 adult patients diagnosed by screening

AU - Rasmussen, Jan

AU - Køber, Lars

AU - Lund, Allan M

AU - Nielsen, Olav W

PY - 2014/3

Y1 - 2014/3

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Arrhythmias, Cardiac

KW - Cardiomyopathies

KW - Carnitine

KW - Denmark

KW - Dietary Supplements

KW - Female

KW - Humans

KW - Hyperammonemia

KW - Male

KW - Mass Screening

KW - Middle Aged

KW - Muscular Diseases

KW - Young Adult

U2 - 10.1007/s10545-013-9640-0

DO - 10.1007/s10545-013-9640-0

M3 - Journal article

C2 - 23963628

SN - 0141-8955

VL - 37

SP - 223

EP - 230

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 2

ER -