FAP and contraception a multidisciplinary view

FAP and contraception a multidisciplinary view 

P.I. Santos, M.


Universidade Fernando Pessoa, Porto, Portugal 

A clinical case will be

approached: A couple in which one of the elements has FAP, familial amyloidotic

polineuropathy. This autosomal dominante disease, that results of a genetic

mutation, at 18 Chromosome, resulting in a diagnosis of amyloidosis (TTR_Met

30), with 50% probability of being transmitted to the descendents. It is a very

limitating disease, since it causes the individual to suffer from heart problems,

intestinal, eye and motor disturbances, sensoriomotor problems as well as sexual

problems up to a cachetic state and total dependency that precedes death (which

usually occurs 10 to 14 years after onset). 

This couple requested therapy since

they were discussing the possibility of having children. Overlapping the desire

of parenthood was the fear of transmission of the disease. After a few sessions

and mutual agreement, they decided to invest in their relationship putting aside

the idea of having children. In this manner, we proceeded by sending the couple

to a gynecology consultation to begin a contraceptive process. 

This case seems

to illustrate the complexity of the “infertility and contraception”

phenomenon, as well as the need of a multidisciplinary intervention suitable for

each couple.

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