Rhabdomyolysis is a complex and potentially life-threatening condition, involving rapid dissolution of damaged or injured skeletal muscle. Clinical manifestations range from mild myalgia with elevated serum creatine kinase (CK) levels to severe acute renal failure (ARF), compartment syndrome, electrolyte disturbances, cardiac dysrhythmia and disseminated intravascular coagulation. Despite the relevance to many medical disciplines and the complexity and severity of complications, there is no established formal definition or well-defined diagnostic strategy guidelines for rhabdomyolysis. Although rhabdomyolysis is defined as a clinical syndrome of severe myalgias, muscle weakness and muscle swelling in the presence of a sudden elevation and subsequent fall of CK levels, the CK cut-off value used in previous studies varies greatly from 1,000 IU/L to 10,000 IU/L .
In addition to the diagnostic assessment in the acute setting, a proportion of patients require further analysis to identify a possible underlying genetic defect contributing to the susceptibility for developing rhabdomyolysis. Several genetic defects have been associated with increased rhabdomyolysis susceptibility. These include variants in genes involved in muscle metabolism and mitochondrial function (e.g., ACADVL, CPT2, PYGM or LPIN1), associated with muscular dystrophies, or related to Ca2+ homeostasis and excitation-contraction coupling (e.g., RYR1).
Although the means to detect a genetic contribution have increased markedly since the introduction of next generation sequencing, the wide genetic heterogeneity potentially contributing to rhabdomyolysis susceptibility poses a considerable diagnostic challenge for clinicians. The complex interplay between risk factors and possible genetic susceptibility requires a standardized diagnostic approach, including a formal definition of rhabdomyolysis, and recommendations on how to select patients that require further genetic investigation.
Candidates are strongly recommended to send an application with an abstract including their name, institute and title of the case (max. 1 A4 page)
LEARNING OBJECTIVES:
The aims of this teaching course are:
– Increase awareness of the triggers that lead to rhabdomyolysis.
– Increase awareness of the features that indicate an underlying genetic cause (‘RHABDO’ features).
– Increase awareness of the diagnostic tools, and prioritization of the various ancillary exams among biochemical analysis, exercise tests, muscle biopsy and genetic analysis. This is following the flow chart that evolved of the ENMC workshop in 2024.
– Gain insight into the therapeutic approaches, emergency care and prevention of recurrence.
– Recommendations for restarting sports activities after an event of rhabdomyolysis.