Family Screening in Familial Papillary Carcinoma: The Early Detection of Thyroid Disease

Abstract

Introduction: Blood relatives of patients with familial papillary thyroid carcinoma (FPTC) have a higher rate of thyroid disease. This study analyzed the utility of a screening protocol for thyroid disease on blood relatives of patients with FPTC.

Study population: Members of families diagnosed with FPTC.

Inclusion criteria: (1) first- and second-degree relatives; and (2) older than age 11 years. Screening: This includes the subject's clinical history, a physical examination, blood tests, and an ultrasound examination.

Control group: A nonrelated healthy population paired by age and sex with the study group.

Results: Sixty-eight percent of blood relatives (128/189) accepted having the screening. The results showed 44.5 % (n = 57) of the relatives did not have disease, 44 % (n = 56) had benign thyroid disease, and 11.5 % (n = 15) had a disease suggestive of malignancy. After the screening, surgery was indicated in 26 patients, and the final results of the study were: (1) 44.5 % (n = 57) were healthy subjects; (2) 50 % (n = 64) had benign thyroid disease (26 cases with a functional disease, and/or 56 with an organic disease); and (3) 5.5 % (n = 7) had malignant thyroid disease. The first-degree relatives had a higher tendency to have the disease than second degree ones (64 vs. 46 %; p = 0.0482). In the control group, the incidence of thyroid cancer was 1.3 % compared with 5.5 % in the study group (p = 0.0182).

Conclusions: Screening allows for the early detection of papillary carcinoma and benign thyroid disease and for this reason we recommend that it is performed periodically. However, more studies, with larger sample sizes, are needed to determine the benefit of screening.