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Myopathy Five New Things Myopathy Five New Things Published with permission from Björn Oskarsson, MD BY BJÖRN OSKARSSON, MD have been made. Also, while the term myositis is often used interchangeably with myopathy in both clinical his brief review touches on 5 relatively practice and in the literature, in this review the term new things that ought to be useful for myositis will be used exclusively for the inflammatory neurologists in general practices. The myopathies. It is important to be aware that the term chosen topics include common condi- often is used to refer to all myopathies, inflammatory or tions, techniques that are rapidly not, and that it can not be taken to imply an inflamma- Tgrowing in utilization, and new developments that tory etiology. mandate new paradigms of treatment. Furthermore, all topics have had important developments in the last 5 TOXIC STATIN MYOPATHIES Statin drugs are years. The first section discusses the very common my- being used more and more frequently, with up to algias, myopathies, and rare rhabdomyolysis occurring 29.7 million people using them in the United States with statin use. Next, the recently established necrotiz- and with $19.7 billion US dollars being spent on ing myopathy associated with statins is described. The outpatient statin prescriptions in 2005.1 Neurolo- third topic is muscle imaging with MRI and ultra- gists are also frequently prescribing statins because sound, which are techniques used in conjunction with they are effective drugs for stroke prevention. Muscle neuromuscular examination, EMG, and muscle biop- complaints are common in statin users, occurring in sies, all of which remain the mainstay of diagnostic more than 10% of this population.2 There are mil- studies for muscle disease. The fourth topic reviewed is lions of people with statin-induced muscle com- the myositis-specific autoantibodies and their relation- plaints and they account for a growing portion of all ship to the inflammatory myopathies. Finally, enzyme patients seen for muscle problems. Statins are replacement therapy for Pompe disease is reviewed. 3-hydroxy-3-methylglutaryl-coenzyme A (HMG- This is the first limb-girdle syndrome for which we have CoA) reductase inhibitors that lower serum choles- a specific treatment and this has increased the impor- terol. The best current understanding is that they tance of firmly establishing the underlying diagnosis in exert their myotoxic effect by inhibiting protein far- patients with these phenotypes. nesylation and prenylation. Which affected proteins Before proceeding, it should be acknowledged that are the most important remains debatable, but the review will not cover other interesting developments ubiquinone (coenzyme Q ) is one of the prenylated in the field of muscle diseases, particularly the muscular 10 proteins exhibiting reduced levels (at least in the se- dystrophies and mitochondrial muscle diseases, where rum) as a result of statin use. The net myotoxic effect huge steps in our understanding of these conditions of statins seems to be a dose-dependent and proapop- totic effect.3 From the Department of Neurology, University of California Davis Medical Center, Sacramento. All the statins can cause muscle problems and the Address correspondence and reprint requests to Dr. Bjo¨rn risk increases along with increases in their lipophilic- Oskarsson, UC Davis Multidisciplinary ALS Clinic, University of ity, cholesterol-lowering potency, and dosage. Ceriv- California Davis Medical Center, 4860 Y St., Sacramento, CA 95817; [email protected] astatin in particular has been implicated as having a Author disclosures are provided at the end of the article. higher risk and it has been withdrawn from the US Neurology® Clinical Practice 2011;76 (Suppl 2):S14–S19 market. Of the remaining statins, atorvastatin and S14 Copyright © 2011 by AAN Enterprises, Inc. “There are millions of people with statin- Table 1 Risk factors for statin myopathy induced muscle complaints and they Risks Endogenous account for a growing portion of all Advanced age (Ͼ80 years) Hypertension patients seen for muscle problems” Diabetes mellitus Small body frame simvastatin have higher myotoxicity rates. Other Renal disease nonstatin lipid-lowering agents such as niacin and Hepatic disease fibrates also carry risks of muscle problems, particu- Hypothyroidism larly when combined with statins. While it is not CYP 450 polymorphisms possible to predict what patients will have statin- induced muscle problems, prior muscle problems Muscle disease or carrier state may be a risk factor and should be considered when Exogenous initiating statin treatment. Family history of myop- Eccentric or heavy exercise athy is relevant if a patient might be a carrier of a Trauma genetic myopathy because it could be unmasked by Major surgery the added stress of statin treatment. Other risk fac- Fibrates tors may include age over 80 years, low body weight, Warfarin female sex, hypothyroidism, and Asian descent, as Cyclosporine well as concomitant use of certain medications, in- Amiodarone cluding calcium channel blockers, macrolide antibi- Grapefruit juice otics, omeprazole, amiodarone, azole antifungals, Azole antifungals histamine H2 receptor antagonists, nefazodone, cy- closporin, HIV protease inhibitors, warfarin, and Macrolide antibiotics grapefruit juice. For a comprehensive list, see table 1. HIV protease inhibitors The most common muscle symptom caused by Nefazodone statins is muscle pain or myalgia and it occurs in Verapamil about 7% of statin users. The myalgia can be any- where from mild to severe and is often worsened by muscle activity. If the symptom is tolerable and Muscle symptoms resolve with discontinuation of the indication for statin treatment strong, for ex- the statin but symptoms can coast for months after ample, in a patient with hypercholesterolemia and discontinuation of the drug. A trial off drug should a recent myocardial infarction, continued statin be 6 months long, unless symptoms improve sooner. treatment may be appropriate. After complete resolution of symptoms, rechalleng- Baseline creatine kinase (CK) levels are not uni- ing patients with a lower dose of a statin with rela- formly recommended before initiation of statin treat- tively low risk of muscle complications (such as ment by the organizations guiding statin treatment, fluvastatin) can be considered if a strong indication but CK levels can provide very useful information if for the statin treatment exists. muscle symptoms later develop. If a patient has mus- Asymptomatic elevation of CK is frequently also cle symptoms during treatment, then a CK level should be checked, and if the level is moderately ele- seen and this often results in a referral to a neurolo- vated, Ͼ10 times the upper limit of normal, then the gist. CK values show great variability among individ- statin drug should be discontinued, according to the uals and normal values are dependent on sex, age, National Lipid Association Statin Safety Assessment race, muscle mass, and physical activity. An under- Task Force.4 This recommendation is reasonable, standing of this variability is helpful for interpreting but as always the risks need to be weighted against CK values. For example, muscle is a very dynamic the benefits of treatment. Many athletes and patients tissue, and after muscle exercise, CK values rise to with muscular dystrophies live with higher, more peak around 4 days after exercise and may not nor- markedly elevated CK levels without developing re- malize until 10–14 days from the exercise.5 nal failure, and a high CK level is not necessarily Muscle weakness can also occur, and it is often detrimental. With escalating levels of muscle break- fatigable in quality and combined with pain and ele- down products being released into the blood, how- vated CK. Like most myopathies, the weakness is ever, at some point renal impairment does occur. most pronounced proximally. Rare episodes of rhab- Neurology: Clinical Practice 76 (Suppl 2) February 15, 2011 S15 featureless appearance of the muscle histology, these Figure Necrotic muscle fibers without inflammatory cells patients respond to immunosuppressive agents such as prednisone and methotrexate but they may require a more aggressive combination of treatments. The other known causes of necrotizing inflammatory my- opathy include overlap syndromes, particularly in the setting of signal recognition particle (SRP) antibod- ies (discussed later in this review), and also paraneo- plastic myopathies. IMAGING Neither MRI nor ultrasound muscle im- aging are yet able to substitute for functional, physi- ologic, or histologic evaluations, but they can be used to provide anatomic information that sometimes is not obvious even by careful physical examination. The detailed anatomic information provided by im- aging can help in the pattern recognition of specific diseases and both modalities can distinguish active and chronic muscle changes. Imaging can also be used to target the muscle biopsy to moderately af- fected tissue, in order to maximize the yield of the Gomori trichrome (ϫ400). biopsy; this is especially useful in diseases with patchy involvement. domyolysis have also occurred with statin therapy; MRI is the muscle imaging technique most often these are far less frequent but can possibly be fatal. used in the United States. Muscle MRI is performed Given the prevalence of statin use, other myopa- as a series of image sequences including T1- thies also affect statin users. If symptoms of a pre- weighted, T2-weighted,
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