We are analyzing https://link.springer.com/article/10.1007/s10072-024-07793-1.

Title:
Diagnostic delay in patients with sporadic hereditary transthyretin-mediated amyloidosis | Neurological Sciences
Description:
Background Hereditary transthyretin-mediated amyloidosis (ATTRv amyloidosis) is a rare progressively incapacitating condition with a wide range of genotype/phenotype presentations. It is frequently diagnosed late in its course, particularly in sporadic cases. Objectives Analysing predictors of diagnostic delay in this subpopulation should be, therefore, a priority. Methods 109 apparently sporadic ATTRv amyloidosis patients followed in a reference centre in Hospital de Santa Maria (ULS Santa Maria-CAML), in Lisbon, were studied. Time from symptom onset to diagnosis, age, sex, municipality of origin and initial symptoms were obtained. Diagnostic delay was compared between different decades with a Kruskal–Wallis test, and its predictors were evaluated in a univariate model followed by a binary logistic regression analysis to calculate the adjusted odds ratio. Results The median diagnostic delay was 1262 days. There was a non-significant difference in diagnostic delay between the 80 s, 90 s, 2000s and 2010s decades. There was a non-significant trend for a longer diagnostic delay in woman and in patients having no neurologic symptoms at onset. Conclusion There is an important diagnostic delay in sporadic cases of ATTRv amyloidosis. Awareness should be spread among clinicians regarding the various manifestations of this disease, stressing the importance of family history and epidemiological data.
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Keywords {🔍}

patients, article, pubmed, delay, amyloidosis, diagnostic, google, scholar, diagnosis, symptoms, onset, disease, amyloid, transthyretin, study, cas, hereditary, attrv, polyneuropathy, cases, data, familial, neurol, sporadic, population, table, included, conceição, family, adams, access, time, symptom, initial, coelho, central, analysis, information, open, origin, test, manifestations, history, cardiac, years, late, age, decades, neurologic, variables,

Topics {✒️}

falcão de campos wild-type transthyretin-mediated article download pdf mamede de carvalho transthyretin-related hereditary amyloidosis uls santa maria-caml full access hereditary transthyretin amyloidosis treatable hereditary neuropathy faculdade de medicina universidade de lisboa hereditary ttr amyloidosis �red-flag” symptom clusters transthyretin amyloid neuropathies familial amyloid polyneuropathy references adams table 1 diagnostic delay length-dependent polyneuropathy privacy choices/manage cookies cardiac transthyretin amyloidosis encompassing laboratory tests de carvalho familial amyloidotic polyneuropathy de bleecker jl related subjects article antunes �low risk area” original author amyloid fibril composition �high risk area” showed marginal associations methods study design french sporadic cases calculating diagnostic delay adjusted odds ratio prompt genetic screening multiple incorrect diagnoses health care professionals carpal tunnel syndrome isolated weight loss gillmore jd presymptomatic genetic testing obtain permission directly european economic area low prevalence regions hereditary amyloidosis median diagnostic delay main content log kruskal–wallis test shapiro–wilk test

Schema {🗺️}

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         headline:Diagnostic delay in patients with sporadic hereditary transthyretin-mediated amyloidosis
         description:Hereditary transthyretin-mediated amyloidosis (ATTRv amyloidosis) is a rare progressively incapacitating condition with a wide range of genotype/phenotype presentations. It is frequently diagnosed late in its course, particularly in sporadic cases. Analysing predictors of diagnostic delay in this subpopulation should be, therefore, a priority. 109 apparently sporadic ATTRv amyloidosis patients followed in a reference centre in Hospital de Santa Maria (ULS Santa Maria-CAML), in Lisbon, were studied. Time from symptom onset to diagnosis, age, sex, municipality of origin and initial symptoms were obtained. Diagnostic delay was compared between different decades with a Kruskal–Wallis test, and its predictors were evaluated in a univariate model followed by a binary logistic regression analysis to calculate the adjusted odds ratio. The median diagnostic delay was 1262 days. There was a non-significant difference in diagnostic delay between the 80 s, 90 s, 2000s and 2010s decades. There was a non-significant trend for a longer diagnostic delay in woman and in patients having no neurologic symptoms at onset. There is an important diagnostic delay in sporadic cases of ATTRv amyloidosis. Awareness should be spread among clinicians regarding the various manifestations of this disease, stressing the importance of family history and epidemiological data.
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      headline:Diagnostic delay in patients with sporadic hereditary transthyretin-mediated amyloidosis
      description:Hereditary transthyretin-mediated amyloidosis (ATTRv amyloidosis) is a rare progressively incapacitating condition with a wide range of genotype/phenotype presentations. It is frequently diagnosed late in its course, particularly in sporadic cases. Analysing predictors of diagnostic delay in this subpopulation should be, therefore, a priority. 109 apparently sporadic ATTRv amyloidosis patients followed in a reference centre in Hospital de Santa Maria (ULS Santa Maria-CAML), in Lisbon, were studied. Time from symptom onset to diagnosis, age, sex, municipality of origin and initial symptoms were obtained. Diagnostic delay was compared between different decades with a Kruskal–Wallis test, and its predictors were evaluated in a univariate model followed by a binary logistic regression analysis to calculate the adjusted odds ratio. The median diagnostic delay was 1262 days. There was a non-significant difference in diagnostic delay between the 80 s, 90 s, 2000s and 2010s decades. There was a non-significant trend for a longer diagnostic delay in woman and in patients having no neurologic symptoms at onset. There is an important diagnostic delay in sporadic cases of ATTRv amyloidosis. Awareness should be spread among clinicians regarding the various manifestations of this disease, stressing the importance of family history and epidemiological data.
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         Familial amyloid polyneuropathy
         Misdiagnosis
         Sporadic cases
         Neurology
         Neuroradiology
         Neurosurgery
         Psychiatry
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