Fettstoffwechselstörungen zeigen häufig keine klinischen Symptome, einzig Hauterscheinungen
können auf einen gestörten Fettstoffwechsel hinweisen. Daher sind weitreichende Laboruntersuchungen
für die Diagnostik ausschlaggebend. Dieser Artikel zeigt die basisdiagnostischen Möglichkeiten
zur Verifizierung einer Fettstoffwechselstörung auf, befasst sich mit ergänzenden
Laboruntersuchungen und nennt therapeutische Zielgrößen.
Abstract
Clinically, disorders of lipid metabolism often remain without symptoms. Typical skin
lesions, however, can be indicative. Secondary hyperlipoproteinemias (HLP) are more
common than primary hyperlipoproteinemias; they can (partially) be improved by treating
the underlying disease. Basic diagnostics consist of the determination of cholesterol,
triglycerides, LDL cholesterol and HDL cholesterol. To exclude secondary HLP, glucose,
HbA1C, TSH, transaminases, creatinine, urea, protein and protein in the urine are useful.
Since virtually all routine methods for LDL-C are biased by high triglycerides, lipoprotein
electrophoresis is indicated for triglycerides above 400 mg/dl (4.7 mmol/l). Primary
HLPs have known or yet unknown genetic causes. Primary hyperlipidemias should be taken
into consideration especially in young patients with an LDL cholesterol concentration
are above 190 mg/dl (4.9 mmol/l) and/or triglycerides above 400 mg/dl (10 mmol/l)
and secondary HLP (obesity, alcohol, diabetes mellitus, kidney disease) is excluded.
The basic diagnostics is meaningfully extended by the measurement of lipoprotein (a)
(Lp(a)). It is indicated in moderate and high risk of vascular disease, progression
of atherosclerosis in "well-controlled" LDL cholesterol, familial clustering of atherosclerosis
or high Lp(a), evidence for elevated Lp(a) coming from lipoprotein electrophoresis,
aortic stenosis and in patients in whom statins have a poor effect. Genetic diagnostics
needs to be considered if primary HLP is suspected. It is most frequently conducted
for suspected familial hypercholesterolemia and has already been recommended in guidelines.
Schlüsselwörter
Labordiagnostik - Lipoproteine - LDL - Triglyceride - Apolipoprotein A
Key words
laboratory diagnostics - lipoproteins - LDL - triglycerides - apolipoprotein B
