Statin‐disclosed acid maltase deficiency

Presymptomatic Neuromuscular Disorders Disclosed Following Statin Treatment

“…Interestingly, Hansen et al, 20 after having evaluated the clinical course and outcome in 45 patients with statinassociated myopathy, recently reported that all patients experienced full resolution of muscle pain and other clinical symptoms after cessation of statin therapy (mean period of recovery, 2.3 months; range, 0.25-14 months). These findings when combined with the observations of our group and other investigators [3][4][5] imply that the resolution of muscular symptoms after statin discontinuation (which may also be followed by substantial reduction of increased CK levels) could assist the clinician to differentiate statinassociated myopathy from a latent neuromuscular disorder that was potentially disclosed by the intake of 3-hydroxy-3-methylglutaryl coenzyme A inhibitors.…”

“…The reported disclosure of a metabolic myopathy following statin prescription in case 2 has also been recognized lately in 2 other patients with myophosphorylase deficiency 3,4 and 2 individuals with acid maltase deficiency. 3,5 As in our patient, statin therapy had triggered muscular symptoms and serum CK level elevation that did not resolve after its discontinuation. The treating physicians were alerted, and further diagnostic workup was performed leading to the eventual diagnosis of the underlying disorders.…”

“…21,22 It should also be kept in mind that measurement of ␣ glucosidase activity in leucocytes or skin fibroblasts may disclose a latent acid maltase deficiency that may become symptomatic during statin treatment. 3,5 Finally, since asymptomatic CK elevations are common, the present clinical observation underscores the importance of the currently recommended pretreatment measurements of CK levels, which might be helpful in the diagnostic evaluation and optimal management of more complex cases with elevated serum CK levels and muscular symptoms. 23 In conclusion, latent neuromuscular disorders can be disclosed by statin therapy in presymptomatic patients.…”

Statin-Related Muscle Complaints: An Underestimated Risk

“…The statin therapy in large number of patients at increased cardiovascular risk represent a great challenge to practising physicians both in terms of efficacy and safety, and the PRIMO trial provides important information on the potential clinical impact of high dosage statin-associated muscle complaints and the reasons why these symptoms should not be underestimated. The observation made by the Brucket and colleagues on the presence of personal or family history of muscular symptoms is also of interest and draws attention to an underrated phenomenon related to the use of statins, which is the disclosure of a pre-symptomatic metabolic myopathy [15] that clearly deserve further investigations.…”

Statin myopathy: an update

“…Statin use, therefore, may unmask a presymptomatic metabolic myopathy such as acid maltase deficiency [13]. Further support of a metabolic predisposition or susceptibility is evidenced by a study [14] demonstrating that cultured myocytes from patients with statin-related myotoxicity have abnormal fatty acid oxidation responses to statins when compared with control muscle.…”