Ispitivanje prisustva i značaja metaboličkog sindroma kod bolesnika sa miotoničnim distrofijama

Abstract

Uvod: Miotonične distrofije tipa 1 i 2 (MD1 i MD2) su nasljedna, sporo progresivna, multisistemska oboljenja. Metabolički sindrom (MetS) predstavlja skup metaboličkih i hemodinamskih poremećaja koji višestruko povećavaju rizik obolijevanja od kardiovaskularnih oboljenja i dijabetes melitusa tipa 2. Učestalost MetS kod bolesnika sa neuromišićnim bolestima je visoka. U literaturi nedostaju podaci o učestalosti MetS kod oboljelih od MD1 i MD2. Cilj: Određivanje učestalosti MetS i njegovih pojedinačnih komponenti kod bolesnika sa MD1 i MD2, kao i analiza uticaja MetS na znake multisistemske afekcije u ovim oboljenjima. Materijal i metode: U studiji je učestvovalo 77 MD1 bolesnika sa adultnom formom bolesti i 47 MD2 bolesnika. Dijagnoza MetS je postavljena na osnovu novih usaglašenih kriterijuma iz 2009. godine. Kod bolesnika je sprovedena detaljna klinička analiza, uključujući kardiološki, pulmološki i oftalmološki pregled. Pored toga, analizirano je stanje krvnih sudova vrata i glave pomoću ultrazvuka, opterećenje hiperintenznim lezijama bijele mase mozga (HLBM) pomoću magnetne rezonance, kao i neuropsihološko i bihevioralno stanje oboljelih. Bolesnici su popunili upitnike za mjerenje kvaliteta života: SF-36, koji je generički upitnik, i INQoL, koji je upitnik specifičan za bolest. Rezultati: MetS je registrovan kod 36% bolesnika sa MD1 što se nije razlikovalo u odnosu na kontrole uparene po polu i starosti (38%). Teški EKG poremećaji su bili značajno češći kod MD1 bolesnika sa hipertenzijom (50% prema 25%) i niskim HDL holesterolom (45% prema 20%). Takođe, sistolna disfunkcija lijeve komore je bila češća kod bolesnika sa hipertenzijom (22% u odnosu na 4%). MetS je bio značajan prediktor spirometrijske restrikcije kod ispitivanih pacijenata, a najznačajnija pojedinačna komponenta povezana sa restrikcijom je bila gojaznost (73% prema 50%). Katarakta je bila prisutna kod svih MD1 bolesnika sa MetS i 82% onih bez MetS, što je bilo od statističkog značaja. Samo 6% bolesnika je imalo aterosklerotske promjene na krvnim sudovima vrata, a one nisu bile od hemodinamskog značaja. Hipertenzija je značajno uticala na debljinu intimo-medijalnog kompleksa...

Introduction: Myotonic dystrophy type 1 and 2 (DM1 and DM2) are inherited, slowly progressive, multisystem diseases. Metabolic syndrome (MetS) is a set of metabolic and hemodynamic disorders which increases the risk of cardiovascular diseases and diabetes mellitus type 2. The frequency of MetS in patients with neuromuscular diseases is high. The literature lacks data on the frequency of MetS in patients with DM1 and DM2. Objective: To assess the frequency of MetS and its individual components in patients with DM1 and DM2, as well as to analzye the impact of MetS on different signs of these multisystem diseases. Materials and Methods: The study comprised 77 patients with adult form of DM1 and 47 patients MD2. The diagnosis of MetS was based on the new consensus criteria from 2009. Detailed clinical analysis was conducted, including cardiac, pulmonary and ophthalmic examinations. In addition, blood vessels of the neck and head were analyzed by means of ultrasound, brain white matter hyperintense lesions (WMHL) were assessed using magnetic resonance imaging, and we also examined neuropsychological and behavioral status of patients. Patients completed quality of life questionnaires: SF-36, which is a generic questionnaire, and INQoL, which is a disease-specific questionnaire. Results: MetS was registered in 36% of patients with DM1 which did not differ with respect to controls matched by sex and age (38%). Severe ECG abnormalities were significantly more common in DM1 patients with hypertension (50% vs. 25%) and low HDL cholesterol (45% vs. 20%). Also, systolic left ventricular dysfunction was more common in patients with hypertension (22% vs. 4%). MetS was a significant predictor of spirometric restriction in the examined patients, and the most important single component associated with the restriction was obesity (73% vs. 50%). Cataract was present in all patients with MetS and 82% of those without MetS which was statistically significant. Only 6% of patients had atherosclerotic changes in the blood vessels of the neck, but they were not of the hemodynamic significance. Hypertension had a significant impact on the thickness of the intima-media complex...