Significance of Asymptomatic Hyper Creatine-Kinase Emia

Abstract

Objectives: Whether asymptomatic hyper-CKemia (AHCE) should prompt a thorough work-up for muscle disease or not is controversially discussed. This review aims at summarizing and discussing recent findings concerning the cause, frequency, evolution, and work-up of conditions manifesting as AHCE and normal or abnormal electromyography (EMG) respectively muscle biopsy. Methods: Systematic PubMed search. Results: There are numerous primary (hereditary) and acquired myopathies that manifest with permanent, recurrent, or temporary AHCE with/without myopathic EMG or muscle biopsy. AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, malignant hyperthermia susceptibility, Pompe disease, McArdle disease, myoadenylate deaminase-deficiency, CPT2-deficiency, mitochondrial disorders, or myopathy with tubular aggregates. Most likely, other primary myopathies manifest with AHCE as well, without having been reported. Patients with AHCE should be taken seriously and repeated CK determination must be conducted. If hyper-CKemia is persisting or recurrent, these patients should undergo an EMG and eventually muscle biopsy. If noninformative, genetic work-up by a panel or whole exome sequencing should be initiated, irrespective of the family history. Patients with AHCE should avoid excessive exercise, require sufficient hydration, require counseling with regard to the risk of malignant hyperthermia, and should inform anesthesiologists and surgeons about their condition before elective surgery. Conclusions: Recurrent AHCE should be taken seriously and managed with conventional work-up. If noninformative, genetic work-up should follow irrespective of the family history.

Investigating raised creatine kinase

“…Elevations may be multifactorial, caused by an interaction between patient demographic factors, concomitant pathology, and/or drug therapies such as statins. Finally, a small percentage of people with creatine kinase elevations are ultimately found to have a hereditary myopathy 910. By contrast, central nervous system disorders such as parkinsonism, myasthenia gravis, or multiple sclerosis do not usually cause elevations of creatine kinase unless complicated by inflammatory myositis 11.…”

Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs

“…На доклинической стадии, когда нет слабости аксиальной мускулатуры, мышц конечностей, скелетных мышц и дыхательных нарушений, БППН может проявляться изолированным повышением креатинкиназы (не выше 2000 Ед / л) [54][55][56]. Однако среди пациентов с бессимптомной гиперкреатинкиназемией число выявленных лиц с БППН, по данным литературы, не превышает 4 % [57,58].…”

Biochemical and Chemical Myopathy as Isolated Initial Manifestation of a Mitochondrial Disorder in a Competitive Swimmer

“…1 Isolated and asymptomatic elevation of creatine-kinase (hyper-CKemia) can be one of these initial manifestations. 2 Here, we present an asymptomatic patient with MID who initially manifested with isolated hyper-CKemia and respiratory chain dysfunction as indicators of a chemical and biochemical myopathy.…”