HyperCKämie – Überlegungen zur sinnvollen Diagnostik

Zusammenfassung

Der Begriff idiopathische HyperCKämie wurde von Rowland 1980 zum ersten Mal gebraucht für asymptomatische Personen mit ätiologisch ungeklärter, persistierend erhöhter CK-Aktivität ohne Auffälligkeiten in der klinisch-neurologischen Untersuchung, Elektrophysiologie und Muskelbiopsie. Die Ursachen für eine HyperCKämie sind zahlreich und schließen endokrine Störungen, medikamentös-induzierte CK-Erhöhung, Makro-CK-Bildung ebenso ein wie die Veranlagung zur malignen Hyperthermie, eine inflammatorische Myopathie und eine (noch) asymptomatische degenerative Myopathie. Auch Faktoren wie Alter, Geschlecht und ethnische Zugehörigkeit beeinflussen die CK-Aktivität. In mehreren retrospektiven Studien zu HyperCKämie konnte histopathologisch in 18–28% (in einer Studie mehr als 60%) der biopsierten Patienten eine neuromuskuläre Erkrankung nachgewiesen werden, in einigen Fällen auch eine inflammatorische Myopathie. Aus eigener Erfahrung ist eine Muskelbiopsie bei Personen mit HyperCKämie, die keine oder nur minimale muskuläre Symptome aufweisen, dann sinnvoll, wenn Rhabdomyolysen auftreten, das EMG myopathisch und/oder die CK-Aktivität deutlich erhöht ist. Um eine optimale Diagnostik zu gewährleisten, sollte die Muskelbiopsie in einem spezialisierten Zentrum erfolgen.

Abstract

In 1980 Rowland first used the term idiopathic hyperCKemia to describe persons with unexplained persistent elevation of creatine kinase activity with no abnormalities on neurological/clinical investigation, electrophysiological studies, and muscle biopsy. Causes of hyperCKemia are numerous including endocrinological dysfunctions, adverse effects of drugs, existence of makro-CK as well as the disposition for malignant hyperthermia, an inflammatory or (yet) asymptomatic degenerative myopathy. Physiological conditions as age, gender, and race have influence on CK levels. Several retrospective studies in patients with hyperCKemia could identify neuromuscular diseases in 18–28% (in one study more than 50%) on histopathological analysis, including some cases of inflammatory myopathy. By first-hand experience it is reasonable to perform a muscle biopsy in asymptomatic or mildly symptomatic individuals with hyperCKemia if there is a history for rhabdomyolisis, if EMG studies show myopathic changes and/or creatine kinase activity is markedly elevated. To ensure an optimal diagnostic procedure the biopsy should be carried out in a specialized center.

Schlüsselwörter

HyperCKämie - Myopathie - Muskelbiopsie - Elektromyografie

Key words

hyperCKemia - myopathy - muscle biopsy - electromyography

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