AACE endocrinology and diabetes · 2026
Sarcoidosis-Induced Hypercalcemia in a Patient With Multiple Endocrine Neoplasia Type 2A (MEN2A) Syndrome Harboring the C609Y REarranged During Transfection (RET) Mutation.
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Ibrahim Eiman, Cheema Zarish, Walaliyadda Praveen, Ali Hashim Muhammad Moseeb, Elbanan Mohamed, Khan Uzma
Аннотация
BACKGROUND/OBJECTIVE: Hypercalcemia is a common clinical manifestation of Multiple Endocrine Neoplasia 2A (MEN 2A) through primary hyperparathyroidism.The objective of this report is to describe a rare and unique case of sarcoidosis-related hypercalcemia in a patient with a history of MEN2A.
CASE REPORT: A 59-year-old female with past medical history of MEN2A, REarranged during Transfection mutation C609Y, diagnosed in 2007 status post-total thyroidectomy presented to the hospital with an acute abdominal pain aggravated with eating. Review of systems was significant for a 40 lbs. weight loss, fatigue, dry mouth, and polydipsia. Computed tomography (CT) abdomen showed liver and spleen nodules and a few mildly enlarged retroperitoneal lymph nodes. CT chest noted enlarged left axillary lymph nodes but otherwise no enlarged mediastinal lymph nodes. Blood work showed a calcium level of 13.6 [8.5-10.3 mg/dl], intact parathyroid hormone: 6.3 [10-65 pg/mL], 25-OH vitamin D level: 21.5 [18-50 ng/mL], 1,25-vitamin D: 51 [18-64 pg/mL]. Liver biopsy showed noncaseating granuloma. Positron emission tomography-computed tomography showed hypodense splenic nodules, heterogenous liver, diffuse pancreatic atrophy, and lack of abnormal neck/lung adenopathy. The patient was then referred to rheumatology for evaluation for sarcoidosis. Angiotensin-converting enzyme level was 124. Patient was managed acutely with calcitonin and was started on prednisone and hydroxychloroquine. Calcium level normalized.
DISCUSSION: The co-occurrence of both MEN 2A and sarcoidosis is rare, adding an unexpected layer of complexity to the diagnosis.
CONCLUSION: The rarity of sarcoidosis co-occurring with MEN 2A highlights the importance of considering a broad differential diagnosis, even in patients with known genetic syndromes, to ensure accurate management.
CASE REPORT: A 59-year-old female with past medical history of MEN2A, REarranged during Transfection mutation C609Y, diagnosed in 2007 status post-total thyroidectomy presented to the hospital with an acute abdominal pain aggravated with eating. Review of systems was significant for a 40 lbs. weight loss, fatigue, dry mouth, and polydipsia. Computed tomography (CT) abdomen showed liver and spleen nodules and a few mildly enlarged retroperitoneal lymph nodes. CT chest noted enlarged left axillary lymph nodes but otherwise no enlarged mediastinal lymph nodes. Blood work showed a calcium level of 13.6 [8.5-10.3 mg/dl], intact parathyroid hormone: 6.3 [10-65 pg/mL], 25-OH vitamin D level: 21.5 [18-50 ng/mL], 1,25-vitamin D: 51 [18-64 pg/mL]. Liver biopsy showed noncaseating granuloma. Positron emission tomography-computed tomography showed hypodense splenic nodules, heterogenous liver, diffuse pancreatic atrophy, and lack of abnormal neck/lung adenopathy. The patient was then referred to rheumatology for evaluation for sarcoidosis. Angiotensin-converting enzyme level was 124. Patient was managed acutely with calcitonin and was started on prednisone and hydroxychloroquine. Calcium level normalized.
DISCUSSION: The co-occurrence of both MEN 2A and sarcoidosis is rare, adding an unexpected layer of complexity to the diagnosis.
CONCLUSION: The rarity of sarcoidosis co-occurring with MEN 2A highlights the importance of considering a broad differential diagnosis, even in patients with known genetic syndromes, to ensure accurate management.