Objective:

To present current approaches to diagnosing and managing hereditary transthyretin-mediated amyloidosis with polyneuropathy (ATTRv amyloidosis with PN) in four Balkan countries.

Approach:

• Expert Panel Discussion: A panel of eight experts from Bulgaria, Croatia, Slovenia, and Serbia discussed country-specific insights on ATTRv amyloidosis with PN management.

Key Findings:

• Bulgaria has a high rate (95%) of early diagnosis of ATTRv amyloidosis with PN due to systematic screening and rapid genetic testing.
• In Croatia, diagnosis often occurs in families with predominant cardiac symptoms.
• Serbia tests all patients with unexplained small fiber neuropathy for ATTRv amyloidosis.
• Slovenia has implemented awareness campaigns and reviews of medical charts to facilitate early diagnosis.
• Genetic testing for TTR mutations is routinely performed in all four countries.

Interpretation:

Enhancements in interdisciplinary collaboration, clinical awareness, and screening programs are necessary for improving diagnosis and management of ATTRv amyloidosis with PN in the Balkan region.

Limitations:

• Delays in referral to specialists due to insufficient awareness among healthcare professionals.
• Low availability of therapies and reimbursement issues in some countries.

Conclusion:

Optimizing diagnostic pathways and enhancing patient outcomes across the Balkan region is essential.