31 research outputs found
Non-pharmacological Methods of Treating Headaches
Glavobolja je jedno od najÄeÅ”Äih neuroloÅ”kih stanja koje zahtijeva akutno ili u odreÄenim sluÄajevima profilaktiÄno lijeÄenje. Detaljnija klasifikacija glavobolja objaÅ”njena je u MeÄunarodnoj klasifikaciji glavobolja. Iako je zbog same komponente boli kod glavobolje najvažnije provesti akutno lijeÄenje, u odreÄenim sluÄajevima važno je djelovati profilaktiÄno (primjerice, kod migrene ili cluster glavobolje). S obzirom na moguÄnost prekomjerne upotrebe analgetika, velik broj lijeÄnika i pacijenata postaje skloniji nefarmakoloÅ”kim metodama lijeÄenja glavobolja. NefarmakoloÅ”ke metode lijeÄenja glavobolje koje navodimo u ovom radu ukljuÄuju: akupunkturu, psiholoÅ”ke tehnike (kognitivno bihevioralna terapija, neurofeedback), neuromodulaciju i prehranu.Headache is one of the most common neurological conditions that requires acute, chronic or preventative treatment. A detailed classification of headaches is explained in the International Classification of Headache Disorders. Although it is most important to provide acute treatment due to the component of pain in headache attacks, in certain cases it is important to act prophylactically (for example in migraine or cluster headache). Given the possibility of overuse of analgesics, a large number of physicians and patients are becoming more prone to nonpharmacological methods of treating headaches. Non-pharmacological methods of headache treatment listed in this paper include: acupuncture, psychological techniques (cognitive behavioral therapy, neurofeedback), neuromodulation and nutrition
GUIDELINES FOR TREATMENT OF PRIMARY HEADACHES BY THE CROATIAN SOCIETY FOR NEUROVASCULAR DISORDERS OF THE CROATIAN MEDICAL ASSOCIATION AND CROATIAN SOCIETY FOR PAIN PREVENTION
Glavobolja je jedno od najÄeÅ”Äih neuroloÅ”kih stanja koje iziskuje veliku potrebu za lijekovima i ostalim metodama lijeÄenja same akutne faze glavobolje, a po potrebi i za prevenciju ostalih napada glavobolje. Prema MeÄunarodnoj klasifi kaciji glavobolja razlikujemo primarne glavobolje (migrena i njeni podtipovi, tenzijska glavobolja i njeni podtipovi, trigeminalne autonomne glavobolje i njeni podtipovi) i sekundarne glavobolje (povezane s infekcijom, traumom glave i vrata, kranijskim ili cervikalnim vaskularnim poremeÄajima, nevaskularnim intrakranijalnim poremeÄajima, prestankom uzimanja odreÄenih tvari, psihijatrijskim poremeÄajima, poremeÄajima kranija, vrata, oÄiju, uÅ”iju, nosa, sinusa, ustiju te drugih facijalnih ili kranijskih struktura). Kod samog lijeÄenja glavobolja važno je razluÄiti primarnu od sekundarne glavobolje, postaviti dijagnozu primarne glavobolje te odluÄiti se za lijeÄenje akutne ili preventivne faze. Od analgetika se najÄeÅ”Äe primjenjuju nespecifi Äni analgetici koji djeluju na Å”iroku paletu boli te specifi Äni analgetici koji djeluju samo na odreÄenu vrstu glavobolje (npr. triptani kod migrenoznih napada). Osim navedenog u tekstu su spomenute i ostale metode koje se koriste u lijeÄenju glavobolja, a koje ukljuÄuju promjenu životnog stila, izbjegavanje provocirajuÄih faktora, akupunkturu te primjenu botulinum toksina.Introduction: Headache is one of the most common neurologic conditions, which means that there is a great need for medications and other methods of headache treatment for acute pain relief and chronic prevention of headache. Aim: Knowing that headache is one of the most common conditions, we wanted to summarize its treatment. Methods: We performed MEDLINE search about treatment of primary headaches. We also explored HRÄAK, the Croatian scientifi c base. Results: We found articles in both scientifi c bases, but we chose only the most systematized ones. Discussion: According to the International Headache Classifi cation, there are two main types of headaches: primary headaches (migraine ant its subtypes, tension type headache ant its subtypes, trigeminal autonomic cephalgias) and secondary headaches (attributed to infection, head or neck trauma, cranial or cervical vascular disorders, non-vascular intracranial disorders, substance withdrawal, psychiatric conditions, pain attributed to disorders of the cranium, neck, eyes, ears, nose, sinuses, teeth, mouth or other facial or cervical structures). When managing diagnosis of primary headache, it is important to make a difference between primary and secondary headache, manage the right diagnosis of primary headache, and decide on the right treatment for acute or preventive phase of headache. The most widely used medications in headache treatment are nonspecifi c analgesics, which can treat headache but also other pain disorders. Specifi c headache medications include those that can treat only a specifi c type of headache. Besides these, there are other methods in headache treatment, which include lifestyle modifi cation, avoiding provocative factors, acupuncture, and treatment with botulinum toxin. Conclusion:For primary headache treatment, it is important to establish the accurate diagnosis and act fast in treatment of acute headache attack. For some patients, it is important to start prophylactic treatment but also try to prevent medication overuse headache. When treating a headache of any kind, it is also important to take the whole picture of a patient and his/hercomorbidities and think of the possible side effects. Lifestyle modifi cation and some complementary methods can help us in treating chronic headaches
NEUROLOGICAL MANIFESTATIONS OF POST-COVID-19 SYNDROME
Uvod: Krajem 2019. otkrivena je nova bolest nazvana COVID-19. Bolest je uzrokovana novim koronavirusom SARS-CoV-2. Ubrzo je Svjetska zdravstvena organizacija (SZO) proglasila pandemiju. Osim diÅ”nih simptoma uoÄeno je da se bolest može oÄitovati i neuroloÅ”kom simptomatologijom te da se tijekom i nakon lijeÄenja COVID-19 mogu javiti neuroloÅ”ke komplikacije. Nakon preboljenja COVID-19, neovisno o težini kliniÄke slike, dio bolesnika žali se na zaostale neuroloÅ”ke simptome. U tim sluÄajevima govorimo o post-COVID-19 sindromu. Za simptome koji se javljaju tjednima ili mjesecima nakon COVID-19 simptoma u literaturi su koriÅ”teni razliÄiti termini kao Å”to su npr. od "dugi-COVID", "postāCOVID sindrom", "posljedice SARSCoV-2 infekcije". Simptomi podrazumijevaju razliÄita oÄitovanja organskih sustava koji se jave i/ili traju dulje od 4 tjedna. Cilj: Napraviti pregled trenutnih znanstvenih Äinjenica povezano sa sindromom post-COVID-19. Metode: Pretražili smo bazu podataka MEDLINE s kljuÄnim rijeÄima: post-COVID-19, neuroloÅ”ka oÄitovanja i dugi COVID-19 u vremenu od 2020. godine. Rezultati: Prema podatcima koje smo prikupili postoje Äetiri stadija COVID-19. Akutni COVID-19 podrazumijeva simptome i znakove bolesti koji traju do 4 tjedna. Produljeni simptomatski COVID-19 podrazumijeva simptome i znakove koji traju od 4 do12 tjedana. Post-COVID-19 sindrom podrazumijeva simptome i znakove koji se jave nakon akutne bolesti te traju dulje od 12 tjedana, a nisu objaÅ”njeni drugom dijagnozom. Sindrom post-COVID-19 podrazumijeva znakove i simptome koji se pojavljuju tijekom ili nakon COVID-19 te traju dulje od 12 tjedana, a nisu objaÅ”njeni drugom dijagnozom. Simptomi se mogu preklapati i varirati u intenzitetu. Dugi COVID podrazumijeva COVID-19 i sindrom post-COVID-19. Å to se neuroloÅ”kih post-COVID-19 oÄitovanja tiÄe, kod bolesnika su najÄeÅ”Äe prisutni slabost i umor, mialgija, smetnje raspoloženja i smetnje spavanja. TakoÄer, u literaturi se navode i trajna glavobolja, smetnje koncentracije koje su nazvane moždanom maglom (od engl. brain fog), parestezije, poremeÄaj ili gubitak okusa, poremeÄaj ili gubitak mirisa te smetnje autonomnog živÄanog sustava. Postoji nekoliko pretpostavljenih naÄina kojima virus doÄe do srediÅ”njeg živÄanog sustava: njuÅ”ni, diÅ”ni i probavni. SrediÅ”nji živÄani sustav može biti oÅ”teÄen izravno i neizravno. Moždana magla i smetnje pamÄenja objaÅ”njeni su srediÅ”njom i respiratornom hipoksijom te proupalnim odgovorom organizma. U sluÄaju sumnje na sindrom post-COVID-19 pri postavljanju dijagnoze uvijek treba uzeti u obzir i ostale moguÄe dijagnoze. U mnogim sluÄajevima potrebno je uÄiniti magnetsku rezonanciju (MR) mozga i vratne kralježnice. Ponekad je potrebno u dijagnosticiranje bolesti ukljuÄiti i ostale specijaliste. ZakljuÄak: Sindrom post-COVID-19 može se oÄitovati nizom neuroloÅ”kih poremeÄaja kao Å”to su kognitivni simptomi, nesanica i promjene raspoloženja, disautonomija, smetnje mirisa i okusa, sindrom postintenzivne skrbi.Introduction: At the end of 2019, a new disease named COVID-19 was discovered. The disease is caused by the new coronavirus SARS-CoV-2. A global pandemic was soon declared by the World Health Organization (WHO). The disease mostly presents by respiratory simptoms. It can also be presented by neurological symptoms and neurological complications may occur during and after treatment of COVID-19. Regardless of COVID-19 symptoms, some patients complain of persistent symptoms. In such cases, we talk of so-called post-COVID-19 syndrome. Various terms have been used in the literature for the spectrum of symptoms that occur weeks or months after COVID-19 symptoms, such as "long-COVID", "post-COVID syndrome", "consequences of SARS-CoV-2 infection". Symptoms include various manifestations of organ systems that occur and/or last longer than 4 weeks. Aim: Our aim was to analyze scientifi c papers on the topic of post-COVID-19 syndrome. We also wanted to describe the proposed pathophysiological mechanisms of post-COVID-19 syndrome and highlight the possible diagnostic algorithm. Methods: We searched the MEDLINE database using the following key features:āpostCOVID-19ā, āneurological manifestationsā and ālong-COVID-19ā back to the year 2020. Results: Accoding to our fi ndings, there are several stages of COVID-19. Acute COVID-19 includes acute disease that lasts for 4 weeks. Ongoing symptomatic COVID-19 includes symptoms that last for 4 to 12 weeks. Post-COVID-19 syndrome involves signs and symptoms that occur during or after COVID-19 infection, last for more than 12 weeks, and cannot be explained by another diagnosis. Symptoms can affect different organ systems and may overlap and fl uctuate in intensity. The term ālong COVID-19ā describes ongoing symptomatic COVID-19 and post-COVID-19 syndrome. Neurological manifestations of post-COVID-19 syndrome include weakness and fatigue, myalgia, mood disorders, and sleep disturbances. Persistent headaches, impaired concentration ("brain fog"), paresthesias, dysgeusia, hyposmia and disorders of the autonomic nervous system have also been reported in the literature. There are several proposed routes for SARS-CoV-2 to reach the central nervosu system: olfactory, hematogenous and gastointestinal. The central nervous system can be damaged directly and indirectly. "Brain fog" and memory diffi culties are explained by central and respiratory hypoxia (especially), as well as proinfl ammatory body response. In case of post-COVID-19 neurolgical symptoms, there always have to be a diagnostic approach that considers and searches for alternative diagnosis in the patient context. Basic laboratory workup with possible later extension has to be done. Also, proper neuroimaging methods, mostly brain and/or spine magnetic resonance imaging, should be performed. In some cases, a multidisciplinary approach may be required. Conclusion: We have made a review of neurological postCOVID-19 symptoms and their pathophysiological mechanism with the initial care proposed. We would also like to note that there still are numerous data on the topic that will certainly be revealed with time
COVID-19 AND NEUROLOGICAL MANIFESTATIONS
Uvod: Krajem 2019. god. otkrivena je nova bolest nazvana COVID-19 (od engl. Corona Virus Disease-2019). Bolest je uzrokovana novim koronavirusom SARS-CoV-2 (od engl. Severe acute respiratory syndrome coronavirus 2), a s obzirom na brzo Å”irenje od strane Svjetske zdravstvene organizacije (SZO) ubrzo je proglaÅ”ena pandemija. Na poÄetku pandemije ustanovljeno je da se COVID-19 osim diÅ”nim simptomima može oÄitovati simptomima drugih organskih sustava. IzmeÄu ostalog COVID-19 može se oÄitovati neuroloÅ”kom simptomatologijom, a neuroloÅ”ki simptomi mogu se javiti i kao komplikacija COVID-19 te nakon preboljenja same bolesti. Cilj: nastojali smo prikupiti najnovije spoznaje o COVID-19 i neuroloÅ”kim oÄitovanjima i komplikacijama. TakoÄer, željeli smo istaknuti i moguÄe razlike pri postavljanju dijagnoze i lijeÄenja. Metode: Pretražili smo bibliografsku bazu podataka MEDLINE s kljuÄnim rijeÄima neuroloÅ”ki simptomi, komplikacije, COVID-19 sve do 2020. godine. Rezultati: Do sada su prema izvjeÅ”Äu SZO ustanovljena 23 neuroloÅ”ka simptoma i 14 neuroloÅ”kih dijagnoza. Prema podatcima SZO do sada je 1/3 hospitaliziranih bolesnika imala neuroloÅ”ke simptome. Kod bolesnika starijih od 66 godina najÄeÅ”Äa je dijagnoza bila encefalopatija, a oÄitovala se agitacijom, smetenoÅ”Äu, delirijem te poremeÄajima stanja svijesti. TakoÄer, encefalopatija je bila pokazatelj loÅ”ijeg ishoda bolesti. Incidencija ishemijskih i hemoragijskih moždanih udara bila je veÄa kod COVID-19 pozitivnih bolesnika u odnosu na opÄu populaciju Å”to se objaÅ”njava proupalnim odgovorom i poveÄanom sklonosti koagulaciji tijekom bolesti. Prethodni Äimbenici rizika za moždani udar kao Å”to su puÅ”enje, Å”eÄerna bolest i arterijska hipertenzija pridonose mehanizmu nastanka moždanog udara i loÅ”ijem ishodu. Manje uÄestali bili su neuromiÅ”iÄni poremeÄaji kao Å”to su kljenut facijalnog živca i Gillian BarrĆ©ov sindrom. Druge infektivne bolesti kao Å”to je meningoencefalitis javljale su se rjeÄe. PoremeÄaji mirisa i okusa obiÄno bi se povukli unutar dva mjeseca. Dijagnostika i lijeÄenje neuroloÅ”kih oÄitovanja COVID-19 ne razlikuje se od uobiÄajenih postupaka. Nema specifiÄnog lijeka za lijeÄenje neuroloÅ”kih poremeÄaja tijekom COVID-19. Važno je napomenuti da bolesnici koji veÄ imaju odreÄenu neurodegenerativnu bolest i veÄi stupanj onesposobljenosti mogu imati loÅ”iji ishod COVID-19. TakoÄer, kod dijela kroniÄnih neuroloÅ”kih bolesti moguÄe je da se tijekom COVID-19 lijeÄenje mora promijeniti. ZakljuÄak: Tijekom pandemije neurolozi su se susreli i s razliÄitim naÄinima reorganizacije bolniÄkog sustava lijeÄenja neuroloÅ”kih bolesnika, praÄenja kroniÄnih neuroloÅ”kih bolesnika, lijeÄenja kroniÄnih bolesnika zbog pandemije te hitnih neuroloÅ”kih stanja kod COVID-19 pozitivnih bolesnika. Zato je neuroloÅ”ka struka morala reorganizirati i osigurati neuroloÅ”ku dijagnostiku i lijeÄenje za ostale bolesnike.Introduction: At the end of 2019, a new disease called COVID-19 was discovered. The disease was caused by the new coronavirus SARS-CoV-2. Due to its rapid spread, a global pandemic was soon declared by the World Health Organization (WHO). At the beginning of the pandemic, it was established that COVID-19 usually presented with respiratory symptoms but that it could also be presented with symptoms of other organs. COVID-19 can be manifested by neurological symptoms. Neurological symptoms can also occur as a complication due to COVID-19 and persist long after the disease has been overcome. Aim: We aimed to analyze scientifi c papers on neurological manifestations and complications in COVID-19 positive patients. We also wanted to highlight the possible differences in neurological diagnosis and treatment strategies. Methods: We searched MEDLINE database using the following key features: "neurological manifestations", "neurological symptoms" and "COVID-19" back to the year 2020. Results: According to a WHO report, 23 neurological symptoms and 14 neurological diagnoses have been described so far. One-third of hospitalized patients had neurological symptoms. Encephalopathy was the most common neurological condition in patients older than 66 years. Those patients presented with different symptoms including agitation, delirium, and consciousness disorders. According to some studies, encephalopathy was also a predictor of poor outcome. The number of cases of strokes (ischemic and hemorrhagic) was higher in COVID-19 positive patients than usual. This fact is explained by the tendency to a hypercoagulable state and proinfl ammatory process while having COVID-19. Also, a great number of patients have already had some risk factors (smoking, hypertension, diabetes mellitus), which contributed to the pathogenesis of stroke and also poorer outcomes. Less often neurological manifestations include neuromuscular disorders such as Guillain-BarrĆ© syndrome and facial palsy. Guillain-BarrĆ© syndrome mostly presented with sensorimotor manifestations. Other infective diseases such as meningoencephalitis occurred in rare cases. Hyposmia, anosmia, and dysgeusia occurred in most cases but resolved mostly within two months of infection. The diagnosis and treatment of neurological manifestations caused by COVID-19 do not differ from the usual diagnostic methods and treatment strategies. There is no specifi c drug to be used during COVID-19 infection and certain neurological diagnoses. Important information is that patients who already have certain neurodegenerative diseases and a higher degree of neurological disability may have worse outcome while having COVID-19. Also, in several neurological patients with a preexisting neurological diagnosis, the strategy and treatment of the underlying neurological disease had to change depending on whether or not the person had COVID-19. Conclusion: In conclusion, during the pandemic, neurologists met with different ways to reorganize the hospital system for treatment of neurological patients, monitoring of chronic neurological patients, treatment of chronic patients due to the pandemic, and emergency neurological conditions in COVID-19 positive patients. Also, the neurologists had to organize normal functioning of neurological diagnostic methods and treatment for other patients
NEUROLOGIC COMPLICATIONS OF ANDERSON-FABRY DISEASE
Anderson-Fabryjeva bolest je rijetka X-vezana recesivna bolest u kojoj je prisutna smanjena aktivnost lizosomalnog enzimaIntroduction: Anderson-Fabry disease is a rare X-linked inborn error and one of the most prevalent lysosomal storage diseases. It is characterized by defi ciency of the lysosomal enzym
NEUROMYELITIS OPTICA AND DIFFERENTIAL DIAGNOSIS OF NEUROMYELITIS OPTICA
OptiÄki neuromijelitis (NMO, od engl. neuromyelitis optica) je autoimuna demijelinizacijska bolest srediÅ”njeg živÄanog sustava koja zahvaÄa uglavnom oÄne živce i kralježniÄnu moždinu. ViÅ”e rasprave o bolesti pokrenuto je 2004. godine kada su otkrivena ciljna protutijela, tzv. anti-akvaporinska protutijela (AQP4-IgG) koja imaju glavnu ulogu u samom mehanizmu nastanka. Za postavljanje dijagnoze potrebno je zadovoljiti dva glavna kriterija i dva od tri suportivna kriterija. Dva glavna kriterija ukljuÄuju: optiÄki neuritis i mijelitis, a suportivni kriteriji ukljuÄuju: MR mozga koji ne ispunjava kriterije za dijagnozu multiple skleroze, prisutnost seropozitivnih AQP4-IgG (NMO-IgG) protutijela, longitudinalno ekstenzivni transverzalni mijelitis (LETM) u T2 vremenu na MR. Kako odreÄena skupina pacijenata nije upotpunjavala sve kriterije za postavljanje dijagnoze NMO, 2007. godine uveden je pojam tzv. NMO-spektar poremeÄaja (NMOSD od engl. neuromyelitis optica spectrum disorder). Godine 2015. pokuÅ”alo se ujediniti termin NMO i NMOSD te su donijeti kriteriji za postavljanje dijagnoze NMOSD. Terapija koja se primjenjuje uglavnom je orijentirana na akutno zbrinjavanje simptoma dok je cilj dugoroÄne terapije sprjeÄavanje egzacerbacija bolesti i novih relapsa. U radu je prikazana defi nicija, dijagnostika, diferencijalna dijagnostika te lijeÄenje NMO/NMOSD.Introduction: Neuromyelitis optica (NMO) is an autoimmune demyelinating disease of the central nervous system that mainly affects optic nerve and spinal cord. The disease can be clinically presented similar to multiple sclerosis. Even though the disease was described in the late 19th century, discussion about the disease was initiated in 2004 when antibodies against aquaporin (AQP4-IgG) were discovered. They play the main role in the mechanism of the disease. Aim: Knowing that NMO can be presented similar to multiple sclerosis, our aim was to collect and review data about NMO and differential diagnosis of NMO. Methods: We performed MEDLINE search for NMO and included literature dating back from the year 2010. We also explored the Croatian scientifi c database HrÄak. Results: We found 334 review articles by exploring MEDLINE but chose only the most systemized ones. On HrÄak, we found 3 articles in Croatian language. Discussion: The prevalence of the disease is 1-4.4/100 000 in Western countries. In some Asian countries, NMO accounts for 50% of demyelinating disease
diagnoses. Searching through the literature, NMO was found to be more common in women as compared with men (9:1 ratio). The disease can be associated with other autoimmune diseases such as systemic lupus erythematosus, sarcoidosis and Sjƶgren syndrome. The disease can be clinically presented by optic neuritis, symptoms of transverse myelitis, nausea, and other brain stem symptoms. At the beginning of defi ning criteria for diagnosing NMO, there were two main criteria and supportive criteria. The two main diagnostic criteria included optic neuritis and myelitis. Supportive criteria included brain magnetic resonance imaging (MRI) not meeting the criteria for multiple sclerosis (MS) diagnosis positive AQP4-IgG antibody and longitudinally extensive transverse myelitis (LETM) on T2-weighted imaging on MRI. A group of patients did not meet the criteria for NMO diagnosis, so in 2007 the term NMO spectrum disorder (NMOSD) was introduced. In 2015, there was a tendency to unite the NMO and NMOSD terms; so diagnostic criteria for NMOSD were developed by Wingerchuk et al. The criteria were extended to those with AQP4-IgG positive and AQP4-IgG negative or unknown status. In the article, were also mention the so called āred fl agsā that help in differential diagnosing of NMO/NMOSD. Treatment is still limited to treating acute exacerbations by methylprednisolone or plasmapheresis. Long-term therapy is focused on reducing the frequency and intensity of exacerbations. Conclusions: Even though NMO is more common in some Asian countries, it can also occur in other countries. Clinically, it is similar to MS but treatment is different. There are some data that medications used in the treatment of MS can worsen the course of the disease in NMO. That is why it is important to make a correct diagnosis
DIAGNOSIS OF ANDERSON-FABRY DISEASE
Anderson-Fabryjeva bolest je nakon Gaucherove bolesti najÄeÅ”Äa lizosomalna bolest nakupljanja. Bolest se nasljeÄuje X-vezano recesivno. Karakterizirana je smanjenom aktivnoÅ”Äu enzimaIntroduction: Anderson- Fabry disease is one of the most common lysosomal storage diseases (after Gaucher disease). It is an X-linked inborn error. A disease is characterized by defi ciency of the lysosomal enzym
TEN-YEAR EXPERIENCE IN TREATING ANDERSON-FABRY DISEASE AT THE DEPARTMENT OF NEUROLOGY, SESTRE MILOSRDNICE UNIVERSITY HOSPITAL CENTRE
Anderson Fabryjeva bolest je rijetka genetska bolest koja pokazuje X-vezano nasljeÄivanje. U podlozi bolesti nalazi se lizosomski poremeÄaj koji obuhvaÄa smanjenu aktivnost odnosno odsutnost enzima alfa-galaktozidaze zbog mutacije gena GLA. Prevalencija se procjenjuje na oko 1 na 40 000 stanovnika. Bolest se manifestira predominantno u muÅ”karaca. Posljedica nedostatka enzima alfa galaktozidaze je nakupljanje glikosfi ngolipida u lizosomima svih tkiva. U kliniÄkoj se slici najÄeÅ”Äe uoÄavaju simptomi vezani uz moždani, srÄani i bubrežni sustav. NeuroloÅ”ka prezentacija ukljuÄuje simptome moždanog udara, kao Å”to su hemipareza, vrtoglavica, dizartrija, hemianopsija te gubitak osjeta. SrÄane manifestacije ukljuÄuju hipertrofi ju lijevog ventrikla, smetnje provoÄenja, valvularnu insuficijenciju te srÄane infarkte. NefroloÅ”ki znakovi ukljuÄuju proteinuriju te progresivno bubrežno zatajenje uz posljediÄni nastanak arterijske hipertenzije. Dijagnostika Fabryjeve bolesti obuhvaÄa laboratorijske pretrage urina te serumske razine globotriaozilceramida. KonaÄna dijagnoza postavlja se molekularnim genetskim testiranjem. LijeÄenje Anderson Fabryjeve bolesti moguÄe je primjenom jednog od dva enzima, algazidaze alfa i algazidaze beta Äime se stabilizira i usporava progresiju Fabryjeve bolesti. Smatra se da bi u Hrvatskoj moglo biti oko 80 bolesnika koji boluju od Anderson Fabryjeve bolesti, ali stvarni podatci pokazuju nedovoljno prepoznavanje bolesti.Introduction: Anderson-Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in vascular endothelium of several organs and in epithelial and smooth muscle cells. It is highly suspected in patients with signs and symptoms of a stroke along with previous skin lesions, renal insufficiency and cardiac symptoms. The diagnosis of Fabry disease has considerable implications regarding treatment, management, and counseling. The diagnosis and treatment of Fabry disease sometimes can be challenging. If the family history suggests a diagnosis of Fabry disease, genetic testing and counseling should be offered to all family members, regardless of their sex. Aim: Our aim was to present Anderson-Fabry disease and to give an inspection into our clinical experience with Anderson-Fabry patients in order to provide more information for physicians to reconsider and diagnose this rare disease. Methods: We performed MEDLINE search and also collected and analyzed information from hospitalization documents of our Anderson-Fabry patients. Results and Discussion: It is presumed that are about 80 patients with Anderson-Fabry disease in Croatia. However, the majority of them are still not recognized, not diagnosed or misdiagnosed. At Department of Neurology, Sestre milosrdnice University Hospital Centre, ten patients have been treated so far. Half of the patients were diagnosed before age 35 years. Most of the patients were admitted to hospital with symptoms of ischemic stroke. Also, during childhood or early adulthood, most of the patients had some symptoms that were underestimated and were not investigated. Currently, there are two treatment options available, both parenteral. A novel therapeutic, oral pharmacological chaperone, migalastat is being developed and will be available soon to our patients as the fi rst oral Fabry therapy. Conclusion: The goal of this article is to introduce physicians more closely in the symptoms, clinical features, diagnostic procedures and treatment options in Anderson-Fabry disease. Reconsidering Fabry disease is important for early diagnosis and early treatment initiation, which will lead to reducing serious complications of unrecognized and untreated disease. As it is a genetically inherited disorder, family tree also plays an important role in detecting the next generation of possible patients. Additional education of physicians should be performed in order to boost awareness of this rare but important disease, as it can be treated with replacement therapy