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Der Klinikarzt 2016; 45(02): 74-81
DOI: 10.1055/s-0042-101531
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© Georg Thieme Verlag Stuttgart · New York

Rationelle Lipiddiagnostik – Labordiagnostik bei Hyper- und Dyslipoproteinämie

Rational lipid diagnosis – Laboratory diagnostics in hyper- and dyslipoproteinaemia
Tanja Grammer
1   Mannheimer Institut für Public Health, Sozial- und Präventive Medizin, Medizinische Fakultät Mannheim, Universität Heidelberg
,
Hubert Scharnagl
2   Klinisches Institut für Medizinische und Chemische Labordiagnostik, Medizinische Universität Graz, Graz (Österreich)
,
Winfried März
2   Klinisches Institut für Medizinische und Chemische Labordiagnostik, Medizinische Universität Graz, Graz (Österreich)
3   Synlab Akademie, Synlab Holding Deutschland GmbH, Mannheim
4   Medizinische Klinik V (Nephrologie, Hypertensiologie, Rheumatologie, Endokrinologie, Diabetologie), Medizinische Fakultät Mannheim, Universität Heidelberg
› Author Affiliations
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Publication History

Publication Date:
21 March 2016 (online)

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Klinisch bleiben Störungen des Fettstoffwechsels oft ohne Symptome. Hinweisend können Hauterscheinungen sein. Sekundäre Hyperlipoproteinämien (HLP) sind häufiger als primäre; sie können durch die Behandlung der Grunderkrankung (teilweise) gebessert werden. Neben Cholesterin, Triglyzeriden, LDL-Cholesterin (LDL-C) und HDL-Cholesterin (HDL-C) sind meist Bestimmungen von Glukose, HbA1C, TSH, Transaminasen, Kreatinin, Harnstoff, Eiweiß und Eiweiß im Urin sinnvoll. Da praktisch alle Routinemethoden für LDL-C durch hohe Triglyzeride gestört werden, ist bei Triglyzeriden über 400 mg/dl (4,7 mmol/l) eine Lipoproteinelektrophorese indiziert. Primäre HLP haben bekannte oder noch nicht bekannte genetische Ursachen. An eine differenzialdiagnostisch bedeutsame primäre HLP ist vor allem dann zu denken, wenn es sich um junge Patienten handelt, die Konzentrationen des LDL über 190 mg/dl (4,9 mmol/l) und/oder der Triglyzeride über 200 mg/dl (2,3 mmol/l) liegen und eine sekundäre HLP (Adipositas, Alkohol, Diabetes mellitus, Nierenerkrankungen) ausgeschlossen ist. Die Basisdiagnostik wird durch die Messung von Lipoprotein (a) (Lp(a)) sinnvoll erweitert. Sie ist indiziert bei intermediärem Risiko für Gefäßerkrankungen, familiärer Hypercholesterinämie, bei Patienten mit frühzeitiger Koronarkrankheit, aber wenig konventionellen Risikofaktoren und bei Patienten mit rapide voranschreitender Atherosklerose. Konzentrationen über 30 mg/dl sollten dazu veranlassen, LDL besonders intensiv zu behandeln. Die genetische Diagnostik kommt bei Verdacht auf primäre HLP infrage. Sie ist am häufigsten indiziert bei Verdacht auf familiäre Hypercholesterinämie (FH, autosomal dominante Hypercholesterinämie, ADH) und wird bereits in Leitlinien empfohlen.

Disorders of lipid metabolism are frequently clinically asymptomatic. Typical skin lesions, however, can be indicative. Secondary hyperlipidemias are more common than primary ones; they can be improved at least partially by treating the underlying disease. In addition to cholesterol, triglycerides, LDL cholesterol and HDL cholesterol glucose, HbA1C, thyroid stimulating hormone, transaminases, creatinine, urea, protein and protein in the urine should be measured. Since virtually all routine methods for LDL cholesterol are biased by high triglycerides, lipoprotein electrophoresis should be ordered if triglycerides exceed 400 mg/dl (4,7 mmol/l). Primary hyperlipidemias have known or yet unknown genetic causes. Primary hyperlipidemias should be taken into consideration in young patients with an LDL cholesterol above 190 mg/dl (4,9 mmol/l) and/or triglycerides above 200 mg/dl (2,3 mmol/l) and if secondary hyperlipidemias (obesity, alcohol, diabetes mellitus, kidney disease) have been ruled out. The basic diagnostics is usefully extended by the measurement of lipoprotein (a). It is indicated at intermediate risk of vascular disease, in familial hypercholesterolemia, in patients with premature coronary disease in the absence of conventional risk factors and in patients with rapidly progressing atherosclerosis; at concentrations above 30 mg/dl LDL cholesterol should be lowered intensely. Genetic testing is used in suspected primary hyperlipidemia. It is most frequently indicated in suspected familial hypercholesterolemia and already recommended in guidelines.

Key words

Disorders of lipid metabolism - hyperlipidemia - cholesterol - triglycerides - lipoprotein electrophoresis - familial hypercholesterolemia - genetic causes
 

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