McArdle disease causing rhabdomyolysis following vaginal delivery

Abstract

Summary McArdle disease (glycogen storage disease type V) is a rare, autosomal recessive disorder with an incidence of roughly 1:100,000. Despite concern that labour could predispose these patients to muscle damage, there are no evidence‐based guidelines for the management of labour and delivery in this population. We describe the case of a nulliparous parturient with both McArdle disease and adenosine monophosphate deaminase 1 deficiency who developed rhabdomyolysis after vaginal delivery. In the absence of common triggers, we believe that prolonged pushing efforts contributed to the increase in postpartum creatinine kinase. There are no previous cases of postpartum rhabdomyolysis after caesarean or assisted vaginal delivery within 45 min. We recommend that practitioners be alert to the possibility of rhabdomyolysis occurring with greater than 2 h of pushing efforts in parturients with McArdle disease.

McArdle disease and pregnancy: A case report and scoping review of pregnancy outcomes

“…Case 1 occurred at 7 weeks after swimming with a CK max of 23,500 U/L; case 2 occurred at 23 weeks after no known trigger with a CK max of 33,000 U/L; case 3 occurred at 25 weeks with a diagnosis of gastroenteritis, with a CK peak of 8000 U/L; and our case occurred at 10 weeks after a URTI with a CK max of 35,763 U/L. 8 , 9 , 12 All cases were treated supportively with IV hydration without further adverse outcomes.…”

“…In four reported cases of rhabdomyolysis, triggers appeared to be related to known triggers outside of pregnancy rather than the pregnancy itself. 8 , 9 , 12 Management reported was similar to outside of pregnancy, and those with rhabdomyolysis had similar pregnancy outcomes to those without antepartum episode of rhabdomyolysis. It remains unclear if fetal outcomes are affected by maternal episodes of rhabdomyolysis.…”

“…Case 1 occurred following a SVD with 149 min of pushing. 8 Her CK max was 28,500 U/L day 2 postpartum, and she was treated with IV fluids with a return to baseline CK of 9708 U/L three days later. This woman had also had an antepartum episode of rhabdomyolysis.…”

“… 20 Similarly, the majority of cases ran 4–5% dextrose during labour as it is believed that this glucose supply may prevent myopathy by reducing the need to breakdown glycogen stores during labour. 8 , 12 , 14 , 16 An assisted second stage should be considered after a shortened period of pushing, as the repetitive abdominal muscle contraction required for maternal pushing effort may trigger rhabdomyolysis. One case of postpartum rhabdomyolysis occurred after a prolonged active second stage of 149 min.…”

Biomarkers in Glycogen Storage Diseases: An Update

“…Type V glycogen storage disease (GSDV, McArdle’s disease) is a metabolic myopathy whose main characteristic is exercise intolerance. Incidence roughly reaches 1:100,000 [ 6 ]. Symptomatologically, patients present with rapid onset fatigue, myalgia, and muscle cramps [ 7 ].…”