The Role of Ultrasound Screening for Thyroid Cancer in Patients With Familialadenomatous Polyposis Syndrome

Abstract

Familial adenomatous polyposis (FAP) is an inherited disease that is characterised by multiple recurrent cancers of the colon (large intestine). Thyroid nodules and thyroid cancer are among the few extraintestinal manifestations of FAP, with a prevalence of 35-80% and 3-12% respectively. The incidence of thyroid cancer is higher in FAP patients than in the general population. However, routine thyroid cancer screening is not consistently performed by most practitioners when managing patients with FAP. We sought to assess the frequency of thyroid cancer screening among patients with FAP and the prevalence of thyroid cancer among these patients. We performed a retrospective chart review of all adult patients with FAP, between January 2000 and December 2016 at our center. 51 patients were identified with a confirmed diagnosis of FAP based on colonoscopy and pathology criteria. Of the 51 patients with FAP syndrome, only 14 patients had thyroid ultrasound performed, and 3 patients were found to have thyroid cancer. With limited data, our analysis showed a reduced prevalence of thyroid cancer of 5% when compared to historical data. Most adult FAP patients did not get thyroid cancer screening and this could be due to lack of awareness in medical providers on the increased incidence of thyroid cancer and FAP. Every clinician managing FAP patients should be educated on the increased risk of thyroid cancer in FAP and the role of thyroid ultrasound screening for early detection of thyroid cancer.

An atypical presentation of hypothyroidism with extremely exaggerated functional impairment

“… 3 Regardless of the fact that these were rarely the initial symptoms of the disease, in a limited sample, 79% of patients with recently diagnosed hypothyroidism experienced of weakness, fatigue, cramps, and myalgias. 4 Our case, although similar to previous reports in generalized weakness and progressive myalgia, she was the first case presenting with polymyositis typical signs and symptoms caused by hypothyroidism. Nonspecific muscle stiffness or diffuse muscle pain are frequent symptoms of hypothyroidism, which may be in correlation with an increase in the levels of muscle enzymes 5 ; however, to date, there is no report of inability to walk or complete functional impairment.…”