Primarno progresivna multipla skleroza

master's thesis

• Title (english): Primary progressive multiple sclerosis
• Author: Tea Pevec
• Mentor: Mario Habek (mentor)
• Committee member: Barbara Barun (predsjednik povjerenstva)
• Committee member: Tereza Gabelić (član povjerenstva)
• Committee member: Mario Habek (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Neurology); Zagreb
• Defense date and country: 2020-07-17, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Neurology

Abstract

Multipla skleroza je kronična autoimuna demijelinizacijska bolest središnjeg živčanog sustava. Prevalencija bolesti je u porastu, a iako etiologija nije u potpunosti poznata, smatra se da su za njezin nastanak zaslužni genetika, imunosna obilježja osobe i
okolišni čimbenici. U etiologiji su posebno važni infekcija Epstein-Barr virusom, pušenje i manjak vitamina D. Bolesnici se, ovisno o smještaju lezija, mogu prezentirati raznim simptomima, a u većine bolest započinje klinički izoliranim sindromom. 85% bolesnika ima relapsno remitirajuću multiplu sklerozu koja, ukoliko nije liječena, u velikog broja tijekom godina prijeđe u sekundarno progresivan oblik bolesti. Manji broj oboljelih ima primarno progresivnu multiplu sklerozu koja je obilježena progresijom od početka bolesti, bez inicijalne relapsno remitirajuće faze. Ovaj tip bolesti počinje oko 40. godine života, a javlja se podjednako u oba spola. Uz kortikalnu demijelinizaciju i smanjen intenzitet upale, PPMS karakterizira i globalni upalni proces te difuzno oštećenje aksona u bijeloj tvari normalnog izgleda. Većina bolesnika prezentira se progresivnom spastičkom paraparezom, a česti su i ataksija te ostali simptomi oštećenja malog mozga i moždanog debla. Dijagnoza PPMS-a temelji se na McDonaldovim kriterijima, revidiranim 2017. godine. Uz 1 godinu progresije bolesti, za postavljanje dijagnoze ključni su paraklinički kriteriji. Dijagnoza se postavlja retrospektivno i nerijetko predstavlja izazov, a u diferencijalnoj dijagnozi potrebno je isključiti širok spektar bolesti. Za liječenje ovog tipa bolesti do sada je odobren samo okrelizumab, a uz njega simptomatska terapija predstavlja temelj liječenja ovih bolesnika.

Abstract (english)

Multiple sclerosis is a chronic autoimmune demyelinating disease of the central nervous system. Prevalence of the disease is rising, and although its etiology is still unknown, genetics, person's immunological characteristics and environmental factors are thought to have major role in disease formation. Epstein-Barr virus infection, smoking and vitamin D deficiency are some of the risk factors especially important in etiology of MS. Patients can, depending on localization of lesions, present with various symptoms. In most of them disease starts with clinically isolated syndrome. 85% of patients have relapse remitting multiple sclerosis and majority of them, if left untreated, will over the years transition to a secondary progressive disease course. Smaller number of patients have primary progressive multiple sclerosis characterised by progression from the disease onset, without initial relapse remitting phase. The mean age of onset in PPMS is around 40 years old and prevalence is approximately equal in both genders. Among cortical demyelination and lower intensity of
inflammation, PPMS is characterised by a global inflammatory process and diffuse axonal injury in normal appearing white matter. The majority of the patients present with progressive spastic paraparesis. Ataxia and the other cerebellar and brainstem symptoms are also very frequent. Diagnosis of PPMS is based on McDonald criteria which were revised in 2017. Positive paraclinical criteria and one year of disease progression are needed to diagnose this type of MS. Diagnosis is
made retrospectively and it can often be very challenging with wide range of differential diagnosis that need to be excluded. Besides ocrelizumab, the only drug approved for PPMS, symptomatic therapy is base for treatment of these patients.

• Keywords: multipla skleroza; primarno progresivna
• Keywords (english): multiple sclerosis; primary progressive
• Language: croatian
• URN:NBN: urn:nbn:hr:105:074172
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2021-04-15 07:21:53