Key result
Familial amyloid polyneuropathy in Portugal presents with a wide age of onset (17-78 years), with 80% of cases developing symptoms before age 40 alongside systemic manifestations.
TTR-FAP in Portugal is characterized by early onset (80% before age 40) and presents with a combination of neurological and systemic (including cardiovascular) manifestations.
Alerts clinicians to early-onset TTR-FAP with systemic features in Portugal; leaves open optimal screening and management strategies.
Familial amyloid polyneuropathy (FAP) is an autosomal dominant disorder characterized by the extracellular deposition of transthyretin (TTR) fibrils in several tissues, particularly in the peripheral nervous system. The largest focus of the disease is in Portugal where the age of disease onset shows a wide range (17-78 years), with 80% of cases developing symptoms before age 40. The characteristic fiber length-dependent sensory-motor and autonomic neuropathy are the neurological hallmark of TTR-FAP. Additional cardiovascular, gastrointestinal (GI), renal and ocular symptoms are the main systemic manifestations that account for phenotypic heterogeneity.
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Isabel Conceição (2012) conducted a review in Familial amyloid polyneuropathy (TTR-FAP). Familial amyloid polyneuropathy in Portugal presents with a wide age of onset (17-78 years), with 80% of cases developing symptoms before age 40 alongside systemic manifestations.
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