Multiple Endocrine Neoplasia type 2 (MEN2) is a genetic cancer syndrome for which there are limited data pertaining to the quality of life and psychosocial experiences of persons affected. Medullary thyroid carcinoma (MTC) is a rare disease of the thyroid gland often associated with MEN2. MTC often progresses slowly and may present with a myriad of physical symptoms including hair loss, sleep disturbance, fatigue, weight changes, heart palpitations, and constipation or diarrhea. Like other cancers or rare, inheritable illnesses, patients with MEN2 and MTC may be at risk for psychosocial stressors. The current, cross-sectional study administered a structured psychosocial interview and The Distress Thermometer/Problem Checklist to 63 patients with MEN2 and MTC and their caregivers. Despite reports of overall good health, 46% of adults and 44% of youth reported that pain interferes with their daily life; 53% of adults and 59% of youth reported that pain interferes with their mood. Pediatric patients frequently reported experiencing attention challenges (50%) and difficulty concentrating (65%). Parents reported that mood shifts and becoming upset easily were the most prevalent concerns for their children. The most frequent need for services included education about MTC, treatment and research participation, and the opportunity to meet others with MTC.
Keywords: medullary thyroid carcinoma; pediatrics; psychosocial; young adults.