Report of neurological manifestations in family members affected by hereditary transthyretin amyloid polyneuropathy
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Abstract
Backgrounds: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. Clinical symptoms such as polyneuropathy are predominant in patients with the Glu109Gln (p.Glu89Gln) mutation. The aim of this work is to present the neurological manifestations in family members affected by hereditary transthyretin amyloid polyneuropathy.
Materials and methods: We report a Macedonian family (three brothers) from North Macedonia, affected by transthyretin familial amyloid polyneuropathy.
Results: Three brothers with TTR-FAP from North Macedonia were hospitalised at the Clinic of Neurology in Skopje. In addition, there was a positive finding from the genetic analysis, with a present pathogen mutation in the TTP gene, Glu109Gln (p.Glu89Gln). The clinical presentation was with progressive length-dependent sensory-motor polyneuropathy, which started with loss of thermal and pain sensation in the feet and slowly ascends up the limbs with affected musculoskeletal reflexes. This clinical appearance is associated with variable autonomic disturbances. We used the Neuropathy Impairment Score (NIS) to determine the association between the severity of neuropathy and disease stage as well as estimate the rate of neuropathy progression. In all three brothers, an increase in the NIS scale was observed within consecutive measurements.
Conclusions: TTR-FAP is an uncommon illness that can be life-threatening. The illness can manifest in a variety of ways with varying indications and symptoms, so it is critical to increase clinician awareness. Early initiation of anti-amyloid treatment is essential for a better outcome.
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