TY - JOUR
T1 - Polyneuropathy as an initial manifestation of Hereditary Transtyretin Amyloidosis (ATTRV) in a young patient
T2 - Case report of a diagnostic challenge
AU - Sarmiento Palma, Julieth Vivian
AU - Sambracos Parrado, Santiago
AU - Echeverria, Maria Camila
AU - Ruiz Talero, Paula
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024/5/14
Y1 - 2024/5/14
N2 - We report the case of a 27-year-old man with transthyretin amyloidosis secondary to the p.Val142Ile mutation with an atypical clinical presentation of predominantly lower limb polyneuropathy without cardiac involvement. p.Val142Ile is mainly associated with cardiopathy, whereas the neuropathic phenotype is mainly associated with p.Val50Met. Our patient belongs to a non-endemic region and due to his lack of support network a possible familial component is unknown. His case represents a diagnostic challenge given the wide heterogeneity of clinical manifestations associated with the disease, with other possible diagnoses of polyneuropathy being reasonably excluded according to prevalence and frequency. The particularly unusual genotype-phenotype association distinguishes this case from the classic description of transthyretin amyloidosis secondary to p.Val142Ile.
AB - We report the case of a 27-year-old man with transthyretin amyloidosis secondary to the p.Val142Ile mutation with an atypical clinical presentation of predominantly lower limb polyneuropathy without cardiac involvement. p.Val142Ile is mainly associated with cardiopathy, whereas the neuropathic phenotype is mainly associated with p.Val50Met. Our patient belongs to a non-endemic region and due to his lack of support network a possible familial component is unknown. His case represents a diagnostic challenge given the wide heterogeneity of clinical manifestations associated with the disease, with other possible diagnoses of polyneuropathy being reasonably excluded according to prevalence and frequency. The particularly unusual genotype-phenotype association distinguishes this case from the classic description of transthyretin amyloidosis secondary to p.Val142Ile.
KW - Amyloidosis
KW - autonomic nervous system diseases
KW - orphan disease
KW - small fiber neuropathy
KW - transthyretin
UR - http://www.scopus.com/inward/record.url?scp=85193080878&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/4bceca53-2193-396d-b78c-25846e205197/
U2 - 10.1177/11795476241253106
DO - 10.1177/11795476241253106
M3 - Article
C2 - 38756680
AN - SCOPUS:85193080878
SN - 1179-5476
VL - 17
SP - 1
EP - 4
JO - Clinical Medicine Insights: Case Reports
JF - Clinical Medicine Insights: Case Reports
ER -