{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T13:52:01Z","timestamp":1782481921593,"version":"3.54.5"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>\n                    Hereditary transthyretin-mediated (ATTRV; v, variant) amyloidosis is a genetic disorder that causes abnormal accumulation of amyloid deposits in organs and tissues. The most common neurological manifestation is polyneuropathy (PN) of the autonomic nervous system, cardiac involvement and average survival of 6\u201312\u202fyears since onset of symptoms. Recent years have been marked by advancements in diagnosis and management of ATTRv amyloidosis with PN. In Balkan countries, endemic regions for some\n                    <jats:italic>TTR<\/jats:italic>\n                    gene mutations exist, with particularities in patient\u2019s access to care given the different health infrastructure set-up. A panel of multidisciplinary experts from Bulgaria, Croatia, Serbia and Slovenia have gathered to discuss country-specific insights and approaches on the current ATTRv amyloidosis with PN diagnosis and management, sharing challenges and best practices. Each country has instituted various strategies for screening, genetic testing, treatment and follow-up of patients. As an endemic country with an older center of excellence in place, Bulgaria has currently a high rate (95%) of patients with ATTRv amyloidosis with PN diagnosed in the early stages of the disease. Across the other countries, delays in referral to a specialist for diagnosis and initiation of treatment have been noted due to insufficient awareness of the disease among other healthcare professionals, low availability of therapies or issues with reimbursement. Enhancement of interdisciplinary collaboration, clinical awareness and screening programs are the key areas of improvement in the Balkan region.\n                  <\/jats:p>","DOI":"10.3389\/fneur.2026.1876381","type":"journal-article","created":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T13:35:08Z","timestamp":1782480908000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinion"],"prefix":"10.3389","volume":"17","author":[{"given":"Ivailo","family":"Tournev","sequence":"first","affiliation":[{"name":"Clinic of Nervous Diseases at Aleksandrovska University Hospital; Department of Neurology, Medical University - Sofia","place":["Sofia, Bulgaria"]},{"name":"Expert Center for Hereditary Neurologic and Metabolic Disorders Sofia","place":["Sofia, Bulgaria"]},{"name":"Department of Cognitive Science and Psychology, New Bulgarian University Sofia","place":["Sofia, Bulgaria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janez","family":"Zidar","sequence":"additional","affiliation":[{"name":"Institute of Clinical Neurophysiology, Division of Neurology, University Medical Centre","place":["Ljubljana, Slovenia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Borut","family":"Peterlin","sequence":"additional","affiliation":[{"name":"Clinical Institute of Genomic Medicine Ljubljana","place":["Ljubljana, Slovenia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ervina","family":"Bili\u0107","sequence":"additional","affiliation":[{"name":"Department of Neurology Clinical Hospital Center Zagreb, University of Zagreb School of Medicine Zagreb","place":["Zagreb, Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stojan","family":"Peri\u0107","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Belgrade","place":["Belgrade, Serbia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Pavlovi\u0107","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Hematology, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade","place":["Belgrade, Serbia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teodora","family":"Chamova","sequence":"additional","affiliation":[{"name":"Clinic of Nervous Diseases at Aleksandrovska University Hospital; Department of Neurology, Medical University - Sofia","place":["Sofia, Bulgaria"]},{"name":"Expert Center for Hereditary Neurologic and Metabolic Disorders Sofia","place":["Sofia, Bulgaria"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"844595","DOI":"10.3389\/fneur.2022.844595","article-title":"Seven years of selective genetic screening program and follow-up of asymptomatic carriers with hereditary transthyretin amyloidosis in Bulgaria","volume":"13","author":"Chamova","year":"2022","journal-title":"Front Neurol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1017\/cjn.2021.34","article-title":"Canadian guidelines for hereditary transthyretin amyloidosis polyneuropathy management","volume":"49","author":"Alcantara","year":"2022","journal-title":"Can J Neurol Sci"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/s13023-025-03547-0","article-title":"Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review","volume":"20","author":"Delgado","year":"2025","journal-title":"Orphanet J Rare Dis"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"S14","DOI":"10.1097\/WCO.0000000000000289","article-title":"First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy","volume":"29","author":"Adams","year":"2016","journal-title":"Curr Opin Neurol"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"2109","DOI":"10.1007\/s00415-019-09688-0","article-title":"Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy","volume":"268","author":"Adams","year":"2021","journal-title":"J Neurol"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1002\/mus.28026","article-title":"Diagnosis and treatment of hereditary transthyretin amyloidosis with polyneuropathy in the United States: recommendations from a panel of experts","volume":"69","author":"Karam","year":"2024","journal-title":"Muscle Nerve"},{"key":"ref7","first-page":"30","article-title":"Evaluation of the small fiber involvement in asymptomatic carriers with mutations in the TTR gene using sudoscan and sympathetic skin response","volume":"24","author":"Asenov","year":"2023","journal-title":"Bulg Neurol"},{"key":"ref8","first-page":"108","article-title":"Sympathetic skin response: review of the method and its clinical use","volume":"105","author":"Kucera","year":"2004","journal-title":"Bratisl Lek Listy"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1007\/s40120-025-00721-1","article-title":"Sudoscan in ATTRv amyloidosis: a potential marker of disease progression?","volume":"14","author":"Romano","year":"2025","journal-title":"Neurol Ther"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1080\/13506129.2024.2313218","article-title":"Serum neurofilament light chain in hereditary transthyretin amyloidosis: validation in real-life practice","volume":"31","author":"Carroll","year":"2024","journal-title":"Amyloid"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"8677","DOI":"10.2147\/IJGM.S338430","article-title":"Hereditary transthyretin amyloidosis with polyneuropathy: monitoring and management","volume":"15","author":"V\u00e9lez-Santamar\u00eda","year":"2022","journal-title":"Int J Gen Med"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1080\/13506129.2019.1627312","article-title":"Assessment of patients with hereditary transthyretin amyloidosis - 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