Resumen

CORREIA, Sofia  y  ANDRADE, Cátia. Familial adenomatous polyposis: a case report. Rev Port Med Geral Fam [online]. 2020, vol.36, n.1, pp.66-71. ISSN 2182-5173.  https://doi.org/10.32385/rpmgf.v36i1.12279.

Introduction: The familial adenomatous polyposis syndrome (FAP), in its classic form, is autosomal dominant. The affected individuals may remain asymptomatic for several years, so it’s important to know their family history and maintain a certain degree of clinical suspicion. Therefore, this case intends to reinforce the role of the family doctor in the approach of this rare pathology and emphasize the need for perfectly coordinated teamwork and health care, bearing in mind the difficulties of a timely diagnosis. Case description: A 20-year-old woman was observed by her family doctor for vomiting, frequent diarrhea and weight loss of 7kg in the last two weeks. She had pain and rebound tenderness on palpation of the peri-umbilical region and left hypochondrium. Through the clinical interview and realization of the family genogram, it was verified the existence of a pattern of hereditary transmission of the pathology of the gastrointestinal tract. She was sent to the emergency department of the hospital, where the existence of surgical and gynecological pathology was excluded, having medical release but referred for internal medicine consultation. After a complete colonoscopy, she was admitted for surgical resection of adenocarcinoma of the sigmoid colon. Comment: This case highlights both the importance of the genogram and the temporal limitation on its application by the family doctor. It also reinforces the importance of integrating and coordinating health care in this pathology. The family doctor should know the possible complications of the surgical intervention, as well as other pathologies associated with FAP and what kind of follow-up should be done in these patients. In this case, it is also necessary to take into account the need for screening of other affected relatives and the importance of pre-conception consultation and/or prenatal diagnosis.

Palabras clave : Familial Adenomatous Polyposis; Genogram; Abdominal Pain; General Practice.

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