Lower urinary tract dysfunction in familial amyloidotic polyneuropathy, Portuguese Type

Abstract

In addition to reduced sensation, underactive detrusor, opening of the vesical neck and external sphincter deficit, we found data suggesting failure of relaxation of the internal and external sphincter. The overdistention associated with an open vesical neck and external sphincter deficit justifies incontinence in those patients. The retention is due to inadequate contraction of the detrusor, probably associated with non-relaxing of the internal and external sphincter. These dysfunctions derive from deposition of amyloid substance in the detrusor, but overdistention is likely to play a role. Early therapeutic intervention in these patients is vital to avoid secondary injuries.

Bladder dysfunction in peripheral neuropathies

“…Andrade et al assessed lower urinary dysfunction in 54 familial amyloidotic polyneuropathy patients. 69 Initial urinary symptoms, including dysuria, incontinence, and sensitivity and contractility disturbances of the detrusor, appeared during the first 3 years of the disease in 50% of their patients. Vesicosphincter dysfunction in familial amyloid polyneuropathy (FAP) occurs at an early stage of the disease even in asymptomatic patients.…”

“…The underlying pathogenesis of these dysfunctions is thought to be damage to small nerve endings and deposition of amyloid in the detrusor. 69 Ito et al performed uro-neurological assessment in 4 patients with amyloid neuropathy. All of the patients described symptoms of lower urinary tract dysfunction and had voiding difficulties due to detrusor weakness and impaired bladder sensation.…”

“…The postulated underlying mechanism may be degeneration of postganglionic cholinergic and afferent somatic nerves. 66,69 The consensus for management of bladder dysfunction due to amyloidosis is clean, intermittent, periodic self-catheterization, particularly when post-void residual volume is large. 66,69 Because of impaired bladder sensation, scheduled catheterization should be performed in order to avoid possible injury from bladder overdistention.…”

Familial amyloidotic polyneuropathy (Portuguese type variant I) and female pelvic floor dysfunction: a tribute to Magellan

“…The effects of FAP-1 on the genito-urinary system in both sexes are common and may be early and progressive-like previously described [4]. The natural history is typically a progressive deterioration in the function of the urinary bladder and urethra similar to other peripheral neuropathy disorders such as that associated with diabetes mellitus.…”

“…The degree of FAP gene mutation and penetrance determines the type of lower urinary tract symptoms in carriers with storage problems occurring at a higher rate (56.5%) than voiding dysfunctions (52.2%). The first abnormality is thus diminished bladder sensation followed by reduced detrusor contractility (myogenic, vasculogenic, or neurogenic patterns) leading to incomplete voiding, urinary retention, and subsequent back-pressure complications on the upper urinary tract and chronic renal failure [4]. One study in progress has shown that the incidence of reduced bladder sensation and reduced detrusor contractility among female carriers of FAP-1 was 33% and 25%, respectively, with the former abnormality appearing earlier (unpublished observation).…”