Abstract
Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive life. The Transthyretin gene mutation originates a mutated protein that precipitates in the connective tissue as amyloid deposits. This disease is presently named Transthyretin-related hereditary amyloidosis. We performed an extensive review on this disease based on searches in Medical databases and in paper references. In this review, we briefly summarize the epidemiology and the mechanisms involved on amyloid deposition; we detailed how to evaluate the mechanisms implicated on the development of the major signs and symptoms associated with reproductive dysfunction; and we discuss the mechanisms involved in secondary sexual dysfunction after psychological treatments. Treatment of the disease is directed towards relieving specific symptoms in association with liver transplant, and molecular and genetic therapeutics. Although the current clinical trials indicate symptoms relief, no data on the reproductive function was reported. Thus, preimplantation genetic diagnosis is presently the only available technique that eradicates the disease as it avoids the birth of new patients.
Highlights
Familial amyloid polyneuropathy was first described in 1952 by Corino de Andrade in Northern Portugal (Andrade, 1952); being presently named Transthyretinrelated hereditary amyloidosis (V30M)
The progressive sensory, autonomic and motor neuropathies eventually leads to cachexia and/or cardiovascular collapse, and results in death 10-20 years after the onset of symptoms (Sousa et al, 1995; Ando et al, 2013). It is caused by a single nucleotide mutation in the Transthyretin (TTR) gene (Saraiva et al, 1984; Benson & Kincaid, 2007)
In regions outside the endemic area, the V30M mutation has a late-onset of symptoms and some individuals may remain asymptomatic for life
Summary
Familial amyloid polyneuropathy was first described in 1952 by Corino de Andrade in Northern Portugal (Andrade, 1952); being presently named Transthyretinrelated hereditary amyloidosis (V30M). Besides retrograde ejaculation (see above) they can develop secretory azoospermia due to atrophy of the seminiferous tubules, caused by amyloid deposits in the interstitial loose connective tissue around small vessels (Andrade, 1952) These men need psychological support, and there are several drugs that help in erection. Vaginal and uterus prolapse, and urinary incontinence - namely coital urinary incontinence (due to detrusor hypo-contractility by loss of parasympathetic nerve stimulation of this smooth muscle of the bladder wall), aggravate the loss of sexual drive (decreased mental arousal), and appear associated with dyspareunia (painful intercourse) and sexual dissatisfaction These patients need psychological support, and there are several pelvic and vaginal therapies that should be introduced, besides surgical corrections of prolapses and incontinence (Gomes et al, 2011, 2012). Some alter serotonin action (Manolis & Doumas, 2012; Nunes et al, 2012)
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