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

Excerpt

Familial amyloidotic polyneuropathy, Portuguese type variant I (FAP-1) is an inherited autosomal dominant disorder caused by disturbance in protein metabolism that was first described by Corino de Andrade in 1939 [1]. The disease originated in Northern Portugal but is found all over the world as a result of the Portuguese navigating expeditions of the fifteenth century, pioneered by Magellan. Most patient clusters are now observed in Portugal, Sweden, and Japan [2]. In Portugal, according to population data from 2008, 3,525 patients with FAP-1 were enrolled in the Portuguese Amyloidosis Centre of Studies. In Sweden, there are 7,500 carriers of the genetic mutation, whereas in Japan, over 350 patients with FAP-1 have been identified. Majorca, Spain, is the area with the highest prevalence in the Mediterranean region and the fourth in the world after Portugal, Sweden, and Japan with 44 patients described. There are also isolated case reports from France, Netherlands, Greece, Italy, USA, and Australia. The exact prevalence of FAP-1 in Brazil which is considered the hub of historical Portuguese colonies, however, remains unknown (Fig. 1). The principal pathology is a mutation on chromosome number 18 of the transthyretin protein where the amino acid methionine replaced valine at position 30 (ATTR V30M) leading to the production of an abnormal amyloid protein by the liver [3]. Systemic deposition of this amyloid in various tissues particularly the axons of peripheral neurons leads to progressive peripheral neuropathy of the sensory, motor, and autonomic nerves.

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