First confirmed case of hereditary gelsolin amyloidosis in Bulgaria: a case report and literature review
DOI:
https://doi.org/10.67667/NEU.v27i1.225Keywords:
hereditary gelsolin amyloidosis, Meretoja syndrome, autosomal dominant inheritance, polyneuropathy, facial neuropathy, cutis laxa, lattice corneal dystrophy, genetic diagnosisAbstract
Background: Hereditary gelsolin amyloidosis (Meretoja syndrome) is a rare systemic amyloidosis with an autosomal dominant inheritance pattern, characterized by a triad of ophthalmological, neurological, and dermatological manifestations.
Initially described in the Finnish population, the disease has since been reported in several other regions worldwide.
Methods: We report the case of a 57-year-old man presenting with progressive neurological, ophthalmological, and dermatological symptoms. A multimodal diagnostic approach was applied, including neurological examination, nerve conduction studies, ophthalmological and dermatological assessment, neuroimaging, and molecular genetic testing. Results: The patient exhibited bilateral facial neuropathy, sensory and autonomic polyneuropathy, lattice corneal dystrophy, cataract, dry eye syndrome, and cutis laxa. Additionally, he had a long-standing recurrent depressive disorder. Genetic testing identified a heterozygous missense variant c.487G>A, p.(Asp163Asn) in the gelsolin gene (GSN gene; NM_198252.3), which was also detected in his children. Family history further supported the autosomal dominant inheritance. Conclusion: This is the first confirmed case of gelsolin amyloidosis in Bulgaria. The report highlights the importance of early genetic verification, a multidisciplinary diagnostic approach, and long-term monitoring of affected individuals.
Although no curative treatment is currently available, establishing the correct diagnosis enables optimized symptomatic management and contributes to improved quality of life for patients.
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Copyright (c) 2026 Plamen Antimov, Sylvia Cherninkova, Teodora Chamova, Ognyan Asenov, Mila Sleptsova, Slavena Atemin, Zornitsa Pavlova, Tihomir Todorov, Albena Todorova, Ivailo Tournev
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