Qatomah and colleagues presented a case study of a male patient with severe reversible acute rhabdomyolysis with concurrent hepatitis C infection and very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency, which is a type of long chain fatty acid oxidation disorder (LCFAOD), as published in the Journal of Medical Case Reports.

Rhabdomyolysis is an adverse event that may occur with the use of direct-acting antiviral agents; it can also develop in patients diagnosed with VLCAD deficiency.

“VLCAD is a key enzyme catalyzing the first reaction in the mitochondrial beta-oxidation of long-chain fatty acids with a length of 14–20 carbons,” the authors explained. The case study described a 31-year-old male who presented to a neurology clinic for evaluation of reversible recurrent rhabdomyolysis with no relevant medical or family history reported. A neurological exam was unremarkable.


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Further diagnostic workup revealed normal nerve conduction and electromyography, and muscle biopsy demonstrated findings consistent with myopathy type 1 muscle fiber atrophy. Whole-exome sequencing revealed VLCAD disease and the patient was started on L-carnitine supplements. Additional assessments revealed a hepatitis C diagnosis. The following is a summary of his laboratory findings: 

  • Polymerase chain reaction revealed RNA of 182,624 IU/ml, with genotype 4
  • Alanine aminotransferase: 51 μ/l
  • Aspartate aminotransferase: 30 μ/l
  • Alkaline phosphatase: 85 U/l
  • Total bilirubin: 9 μmol/l
  • Prothrombin time: 11.2 seconds 
  • Partial thromboplastin time: 30.8 seconds 
  • International normalized ratio: 1.0
  • Creatinine kinase: 546 U/l
  • Creatinine: 73 mmol/l 
  • Hemoglobin: 150 g/l
  • White blood count: 6900 × 109
  • Platelet count: 309,000 x 10

Abdominal ultrasound revealed normal liver parenchyma and no signs of portal hypertension. Liver biopsy revealed periportal inflammation consistent with chronic hepatitis C infection. 

“The patient received new direct-acting antiviral agents: sofosbuvir and daclatasvir. Fourteen days after initiation of direct-acting antiviral agents, the patient was found to have asymptomatic rhabdomyolysis,” the authors said. His creatinine kinase peaked at 2572 IU/l and his direct-acting antiviral agents were discontinued. The patient’s creatinine kinase levels then returned to normal within 7 days. 

“This case highlights possible direct-acting antiviral agent-induced rhabdomyolysis in a patient with VLCAD deficiency, presumably through alteration of mitochondrial membrane potential,” the authors concluded. “Further studies are required to assess the possible impact and associations.”

Reference

Qatomah A, Bukhari M, Cupler E, et al. Acute reversible rhabdomyolysis during direct-acting antiviral hepatitis C virus treatment: a case reportJ Med Case Reports. Published online December 19, 2021. doi:10.1186/s13256-021-03138-0