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A Case Study of Multiple Endocrine Neoplasia Type 2A
1Otolaryngology - Head and Neck Surgery, Western Reserve Hospital, Cuyahoga Falls, USA.
Cureus
|September 5, 2022
Summary
Multiple endocrine neoplasia type 2A is a rare genetic disorder often presenting with medullary thyroid carcinoma. Early diagnosis and surgical intervention, including total thyroidectomy, are crucial for managing this neoplastic syndrome.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder.
- MEN2 encompasses subtypes MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).
- Medullary thyroid carcinoma (MTC) is a universal feature of MEN2.
Observation:
- Multiple endocrine neoplasia type 2A (MEN2A) is rare and patients are often asymptomatic.
- Morbidity and mortality in MEN2A are primarily linked to medullary thyroid carcinoma.
- Prompt clinical evaluation and surgical intervention are essential for disease management.
Findings:
- This case report details a patient diagnosed with medullary thyroid carcinoma.
- The patient's workup confirmed a diagnosis of multiple endocrine neoplasia type 2A.
- The patient underwent total thyroidectomy with central neck dissection for disease control.
Implications:
- Early detection and surgical management of MTC in MEN2A are critical.
- This case highlights the importance of comprehensive workup for suspected MEN2A.
- Surgical strategies like total thyroidectomy and neck dissection are vital for controlling MTC in MEN2A.
