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