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This is a Cross-Sectional Study study.

November 9, 2025Open Access

Changing the natural course of hereditary transthyretin amyloidosis: the importance of early diagnosis

LALígia Rocha AndradeUniversidade do Estado do Rio de Janeiro CSClarissa Neves Spitz Ana Siquara EDEduardo Davidovich

Key Points

Diagnosis of hereditary transthyretin amyloidosis may improve outcomes by addressing symptoms early, particularly neuropathic signs.
In a cross-sectional study, 25% of asymptomatic individuals with hereditary transthyretin amyloidosis were diagnosed through sensitive testing methods.
Assessment revealed that autonomic impairment and small-fiber neuropathy were critical indicators of disease onset, facilitating early diagnosis.
Identifying symptoms like motor impairment may help manage hereditary transthyretin amyloidosis better when detected timely.

Abstract

Background: Hereditary transthyretin amyloidosis (ATTRv) has a heterogeneous clinical presentation, and the symptoms are mainly neuropathic, including autonomic, sensory, and motor impairment. In addition, it may be associated with gastrointestinal, cardiac, renal, and ocular involvement. Diagnosis in the early stages is essential to allow appropriate treatment and to prevent or slow the progression of the disease. Objective: Early detection of the disease in asymptomatic ATTRv carriers. Methods: A cross-sectional study of asymptomatic individuals with ATTRv was conducted at the neuromuscular diseases outpatient clinic of Hospital Pedro Ernesto in Rio de Janeiro from April 2019 to November 2023. Results: 4 out of 16 individuals (25%) were diagnosed with the disease through salivary gland biopsy, after presenting alterations in at least two complementary tests related to the evaluation of small-fiber neuropathy, even if those individuals remained completely asymptomatic. Conclusion: Small-fiber neuropathy was the earliest sign of disease onset, occurring in all four individuals diagnosed and the tests that proved to be more sensitive were sympathetic skin response (SSR) and quantative sensory testing (QST)

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