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Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic.
Bardey, Frieda; Rieck, Lorenz; Spira, Dominik; März, Winfried; Binner, Priska; Schwab, Stefanie; Kleber, Marcus E; Danyel, Magdalena; Barkowski, Rasmus; Bobbert, Thomas; Spranger, Joachim; Steinhagen-Thiessen, Elisabeth; Demuth, Ilja; Kassner, Ursula.
Afiliación
  • Bardey F; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
  • Rieck L; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
  • Spira D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
  • März W; Synlab Academy, P5, 7, 68167 Mannheim, Germany; Vth Department of Medicine, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim, Germany; Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Auenbrugger Platz 15, 8036 Gra
  • Binner P; Synlab Center of Human Genetics, Harrlachweg 1, 68163 Mannheim, Germany.
  • Schwab S; Synlab Center of Human Genetics, Harrlachweg 1, 68163 Mannheim, Germany.
  • Kleber ME; Vth Department of Medicine, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim, Germany; Synlab Center of Human Genetics, Harrlachweg 1, 68163 Mannheim, Germany.
  • Danyel M; Berlin Institute of Health (BIH), Berlin, Germany; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Augustenburger Platz 1, Berlin, 13353, Germany.
  • Barkowski R; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
  • Bobbert T; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
  • Spranger J; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
  • Steinhagen-Thiessen E; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
  • Demuth I; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany; Charité - Universitätsmedizin Berlin, BCR
  • Kassner U; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Endocrinology and Metabolic Diseases (including Division of Lipid Metabolism), Augustenburger Platz 1, 13353 Berlin, Germany.
J Lipid Res ; : 100589, 2024 Jul 03.
Article en En | MEDLINE | ID: mdl-38969064
ABSTRACT

BACKGROUND:

Severe hypertriglyceridemia (HTG) has predominantly multifactorial causes (MCS). Yet a small subset of patients have the monogenetic form (FCS). It remains a challenge to distinguish patients clinically, since decompensated MCS might mimic FCS´s severity. Aim of the current study was to determine clinical criteria that could sufficiently distinguish both forms as well as to apply the FCS score proposed by Moulin and colleagues.

METHODS:

We retrospectively studied 72 patients who presented with severe HTG in our clinic during a time span of seven years and received genetic testing. We classified genetic variants (ACMG-criteria), followed by genetic categorization into MCS or FCS. Clinical data were gathered from the medical records and the FCS score was calculated for each patient.

RESULTS:

Molecular genetic screening revealed eight FCS patients and 64 MCS patients. Altogether, we found 13 pathogenic variants of which four have not been described before. The FCS patients showed a significantly higher median triglyceride level compared to the MCS. The FCS score yielded a sensitivity of 75% and a specificity of 93.7% in our cohort, and significantly differentiated between the FCS and MCS group (p<0.001).

CONCLUSIONS:

In our cohort we identified several variables that significantly differentiated FCS from MCS. The FCS score performed similar to the original study by Moulin, thereby further validating the discriminatory power of the FCS score in an independent cohort.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Lipid Res Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Lipid Res Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos