Abstract

BRISENO-GODINEZ, María E.; CARDENAS-SOTO, Karla; DOMINGUEZ-VEGA, Rosa X.  and  GONZALEZ-DUARTE, Alejandra. What a neurologist must know of hereditary ATTRv amyloidosis. Rev. mex. neurocienc. [online]. 2023, vol.24, n.2, pp.41-51.  Epub June 12, 2023. ISSN 2604-6180.  https://doi.org/10.24875/rmn.22000071.

Transthyretin-related hereditary amyloidosis (ATTR) is a systemic disease result of an autosomal dominant mutation in the transthyretin (TTR) gene. This mutation will cause the deposition of misfolded TTR protein in several organs, leading to its dysfunction. The disease has been described worldwide, although it is still considered rare. It has a region-dependent genotype-phenotype correlation. Cardiomyopathy and a symmetric length-dependent sensory-motor and autonomic polyneuropathy are the hallmark manifestations. However, in non-endemic areas, the diagnosis will challenge the neurologist because some systemic manifestations are usually attributed to more common disorders. Therefore, in the approach of a patient with polyneuropathy, the presence of family history, early autonomic dysfunction (cardiovascular, genitourinary, or gastrointestinal features), cardiac involvement, and inexplicable weight loss should be considered red flags that point toward ATTR. After diagnosis, the goal will always be to have a multidisciplinary approach, including a complete neurologic, autonomic, and cardiologic assessment, to establish a short- and long-term strategy for treatment, including symptomatic and disease-modifying medications that are now available. In that way, the increased awareness among specialists will positively impact the patient quality of life and survival by accomplishing an earlier diagnosis and treatment.

Keywords : Transthyretin; ATTRv amyloidosis; Neuropathy; Neurologist.