The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.

ABSTRACT:

Background and purpose

Rhabdomyolysis is a medical emergency characterized by acute skeletal muscle breakdown with a sudden rise and subsequent fall of serum creatine kinase (CK) levels. Rhabdomyolysis events are provoked by exposure to external triggers, possibly in combination with an increased genetic susceptibility. We aimed to describe comprehensively the external triggers and potentially pathogenic genetic variants possibly implicated in increased rhabdomyolysis susceptibility.

Methods

We performed a retrospective single-center study, including a total of 1302 patients with an acute CK level exceeding 2000 IU/l.

Results

Anoxia was the most frequently reported trigger (40%). A subset of 193 patients were clinically suspected of an underlying genetic disorder (rec

SUBMITTER: Kruijt N 

PROVIDER: S-EPMC7821272 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature