Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases.

INTRODUCTION: Human fibroblast growth factor 21 (FGF21) is a regulator of lipid and glucose metabolism. It is expressed in skeletal muscle and may be a sensitive and specific marker for mitochondrial diseases and other neuromuscular disorders. METHODS: Serum FGF21 levels were determined in 71 human samples. Thirty patients with mitochondrial disease, 16 patients with myotonic dystrophy type 1 (DM1), 5 patients with facioscapulohumeral dystrophy, and 20 healthy controls were enrolled. Results Serum FGF21 levels were significantly elevated in patients with progressive external ophthalmoplegia and DM1 compared with patients with facioscapulohumeral dystrophy, other types of mitochondrial diseases, and controls. In the mitochondrial disorder group, serum FGF21 levels were related to the number of ragged blue fibers. Significant insulin resistance was found in DM1 that might be responsible for FGF21 elevation. Conclusions FGF21 elevation may be associated with certain types of mitochondrial disease, and it is influenced by insulin resistance. Muscle Nerve 55: 564-569, 2017.

[Lipids and cerebrovascular disease - New therapeutic options in lowering LDL-cholesterol]. / Lipidek és az agyérbetegség ­ Új lehetoségek az LDL-koleszterin-szint csökkentésére.

Stroke is the third most common cause of death worldwide following myocardial infaction and malignancies, furthermore, its functional outcome is the worst of all conditions. Cholesterol, especially LDL-cholesterol plays a key role in the formation of atherosclerotic plaques. It has been verified recently that escalating incidence and mortality of cerebrovascular diseases are proportional to increased levels of LDL-cholesterol. Statin therapy undeniably reduces the risk of stroke, however other methods for decreasing lipid levels have not been proved significantly effective. Preventive effect of high-dose statin treatment is without doubt, although administration of such high dosage might require special precautions for patients with prior intracerebral hemorrhage and it also risks development of incident diabetes. The recently published IMPROVE-IT study is the first to prove that the addition of ezetimibe as a non-statin type drug, to statin treatment contributes to further reduction of LDL-cholesterol. The combination treatment results in additional decrease in the incidence and mortality of cerebrovascular events, without any expansion in the number or adverse effects. These results confirm the importance of any further reduction of LDL-cholesterol levels. Achieving target values with statin-ezetimibe combination allows administration of low to moderate dose of statin, which decreases risks of adverse effects related to high-dose statin therapy. Orv. Hetil., 2016, 157(52), 2059-2065.

Successful termination of ventricular arrhythmias with implantable cardioverter defibrillator in a patient with myotonic dystrophy / Implantálható kardioverter-defibrillátor által sikeresen megszüntetett malignus kamrai ritmuszavar dystrophia myotonicában szenvedo betegben.

Összefoglaló. A dystrophia myotonica (DM) multiszisztémás, autoszomális domináns módon öröklodo, többségében felnottkori izombetegség, melynek incidenciája 1 : 8000. A betegség kapcsán fellépo izomszöveti degeneráció a harántcsíkolt izomszövet átépülése mellett a szívizomszövetet is érinti, ami fontos oki szerepet játszik az érintett betegek csökkent várható élettartamában. A DM-ben szenvedok halálozásának közel egyharmadáért a cardiovascularis okok tehetok felelossé. Esetriportunkban egy 52 éves, korábban kritikus bradycardia és I. fokú atrioventricularis blokk miatt pacemakerimplantáción átesett, DM-mel diagnosztizált nobeteg kardiológiai utánkövetését mutatjuk be. A hirtelen szívhalál rizikóstratifikációja céljából elvégzett invazív elektrofiziológiai vizsgálat során kamrafibrilláció lépett fel, így a korábban implantált pacemakerelektródák mellé sokkelektróda került beültetésre, a pacemakerkészüléket implantálható kardioverter-defibrillátorra (ICD) cseréltük. Az 1 éves ICD-kontrollvizsgálat során azt találtuk, hogy a beültetés óta 22, tartós kamrai tachycardiával járó epizód lépett fel, melyek közül a készülék valamennyit sikeresen terminálta. Az eset bemutatásával szeretnénk rámutatni arra, hogy a magas cardiovascularis rizikócsoportba tartozó DM-betegek azonosítása kiemelkedo fontosságú lehet a hirtelen szívhalál megelozése érdekében. Orv Hetil. 2021; 162(46): 1856-1858. Summary. Myotonic dystrophy (DM) is one of the most frequent adulthood diseases of the skeletal muscles, which develops multisystemic features and shows autosomal dominant trait. In DM, tissue degeneration affects not only the skeletal, but the cardiac muscle, too. In one third of the patients, the cause of death is of cardiac origin. We report on our patient's case, who was diagnosed with DM at the age of 52, in whom episodes of critical bradycardia with first-degree atrioventricular block was detected, resulting in a pacemaker implantation. Invasive cardiac electrophysiological study was performed, during which ventricular fibrillation was registered. A shock electrode was added to the previously implanted pacemaker, enabling defibrillation in case of detection of a sustained ventricular arrhythmia. During the 1-year follow-up, 22 episodes of sustained ventricular tachycardia were identified, with the device successfully terminating the malignant arrhythmias. Our case shows that electrophysiological study and the succeeding implantation of an implantable cardiac defibrillator is highly important in identifying and terminating ventricular arrhythmias in high-risk DM patients. Orv Hetil. 2021; 162(46): 1856-1858.