Abstract
PurposeWe aimed to review the current knowledge on the epidemiology, diagnosis, and management of urinary and sexual dysfunction in patients with TTR amyloidosis (ATTR).MethodsWe performed a review of the literature, screening for randomized controlled trials, prospective and retrospective series, position papers, and guidelines on urinary and sexual dysfunction in ATTR patients published in PubMed and Embase.ResultsLower urinary tract dysfunction is present in up to 83% of patients with ATTR. Voiding symptoms are the most common, reported in 34.8−87.5% of patients, while urinary tract infections are reported in up to 50%. Urinary incontinence is observed in 16.7−37.5% of the ATTR population, mostly due to decreased urethral resistance. Sexual dysfunction affects over 40% of ATTR patients, with erectile dysfunction and sexual arousal disorder being the most common symptoms in male and female patients, respectively. In addition to a thorough clinical examination, invasive pressure-flow urodynamic testing is a cornerstone in the assessment of ATTR lower urinary tract dysfunction. The most common finding is detrusor underactivity and intrinsic sphincter deficiency. Poor bladder compliance can also be observed in patients, due to amyloid deposits on the bladder wall. Urinary tract imaging may be of interest to rule out upper urinary tract deterioration. Given the paucity of data in the ATTR population, treatment should be tailored to the individual patient.ConclusionUrinary and sexual dysfunction are highly prevalent in ATTR patients. Comprehensive assessment and multidisciplinary management are keys to avoiding upper urinary tract damage and improving patients’ quality of life.
Highlights
First described in 1952 by Corino de Andrade, hereditary transthyretin amyloidosis (ATTR), formerly known as familial amyloid polyneuropathy type 1, is an autosomal dominant disease caused by a mutation in the transthyretin gene [1]
A PubMed and Embase literature review was conducted in December 2018, screening for randomized controlled trials (RCTs), prospective and retrospective series, position papers, and guidelines on urinary and sexual dysfunction in ATTR patients
Recent data suggest that lower urinary tract dysfunction (LUTD) might occur at early disease stages [9]
Summary
First described in 1952 by Corino de Andrade, hereditary transthyretin amyloidosis (ATTR), formerly known as familial amyloid polyneuropathy type 1, is an autosomal dominant disease caused by a mutation in the transthyretin gene [1]. It is a rare disease, but its prevalence in endemic regions such as Portugal, Sweden, and Japan can exceed 1:1000 [2,3,4,5]. The transthyretin gene mutation causes a conformational transformation of transthyretin, a transport protein produced by the liver.
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