P23-8 Multiple endocrine neoplasia type 2a syndrome: A tertiary care center experience in Pakistan

Abstract

Multiple endocrine neoplasia type 2a (MEN-2a) is a rare autosomal dominant disorder. Available literature in the subcontinent is limited. Here we report a case series of MEN-2a patients from two families. This case series was conducted at Shaukat Khanum Memorial Cancer Hospital and Research Center. We included 2 families that fulfilled clinical criteria for MEN-2a. Five patients were clinically diagnosed with MEN-2a syndrome. Mean age at presentation was 22.4 yrs. All 5 patients had medullary thyroid cancer (MTC). Four patients had pheochromocytoma and 1 patient had a nonfunctioning adrenal incidentaloma. One patient had primary hyperparathyroidism (PHPT). All 5 patients underwent total thyroidectomy and 4 patients underwent adrenalectomy. One patient underwent neck exploration surgery for PHPT. Post treatment, 4 patients had resolution of MTC, 1 patient has calcitonin levels which remain high and is under investigation. All 4 patients had resolution of pheochromocytoma post surgery. Only one patient had all three manifestations of MEN-2a. None of the patients underwent genetic testing due to non-availability; therefore MEN-2a was diagnosed purely on clinical grounds. Both families were advised screening for MEN-2a syndrome of all first-degree family members. In this case series, age, clinical presentation and outcomes were like those reported in literature. In our practice we face various challenges such as logistics, lack of availability of genetic testing, financial constraints and poor follow up. Given the above limitations, would the management recommendations for family members of clinically diagnosed MEN-2a patients be the same as for patients who have had positive genetic testing, as international guidelines suggest measures like prophylactic thyroidectomies based on genetic testing. More studies are needed from the subcontinent so that recommendations for MEN 2-a can be made specific to this population.