Objective: Antiphospholipid syndrome (APS) can involve multiple organ systems but endocrine manifestations are rare. In most cases adrenal insufficiency (AI) is the first endocrine manifestation of APS. The prompt diagnosis of AI is critical as this disorder is a life-threatening disease that may lead to fatal outcomes if left untreated. We present a case of AI associated with APS the patient was diagnosed promptly and managed successfully. Methods: The diagnosis of APS was based on a combination of clinical features (deep venous thrombosis and pulmonary embolism) and laboratory findings (lupus anticoagulant, anticardiolipin antibody, anti-beta-2 glycoprotein-I antibody), without alternative diagnosis to explain the clinical findings. AI was diagnosed by low morning serum cortisol with elevated adrenocorticotropic hormone (ACTH) level as well as an ACTH stimulation test. Results: A 50-year-old male presented with deep venous thrombosis of the left extremity diagnosed by compressive ultrasound, and was subsequently diagnosed with a pulmonary embolism by computed tomography angiography and treated with heparin. Two days later, he developed hypotension and bilateral flank pain, and an abdominal computed tomography scan revealed bilateral adrenal hemorrhage. Laboratory results showed a serum cortisol of 3.3 mcg/dL (stress normal, 25 to 35 mcg/dL) and ACTH of 319 pg/mL (stress normal, 128 to 218 pg/mL), consistent with primary AI. Symptoms improved quickly with hydrocortisone therapy. The patient still required glucocorticoid therapy for at least 4 years thereafter. Conclusion: In all cases of adrenal hemorrhage and infarction with unknown etiology, screening with lupus anticoagulant and anticardiolipin antibodies is imperative. Recognition of this high-mortality condition allows for appropriate screening and confirmatory tests leading to a prompt diagnosis and timely management.
Background : Anaplastic thyroid cancers (ATC) are extremely aggressive and rapidly fatal. We report a case of ATC presenting as a rapidly enlarging, painful neck mass. Case Presentation : A 59 year old female presented with 2 month history of a right-sided, painful neck mass and inability to project her voice. Review of systems was positive for dyspnea when supine, intermittent headaches, and difficulty swallowing. Exam revealed a palpable 3.0 cm hard, tender thyroid mass. Cranial nerves were grossly intact. Initial laboratory results showed TSH 1.1 mcIU/mL, calcitonin <2.0 pg/mL. Fine needle aspiration of thyroid mass revealed large cells with abundant eosinophilic cytoplasm, nuclear pleomorphism, and abundant necrosis. Thyroid u/s revealed a 3.5 cm irregular right thyroid mass with cystic areas, abutting the trachea and multiple nodules with irregular margins in the left thyroid lobe. Neck CT described a 3.8 cm mass with variegated enhancement abutting the trachea without luminal invasion. Brain MRI noted a 2.1 cm dural mass over the left occipital lobe with histology confirming metastatic ATC. Discussion Patient’s thyroid biopsy revealed de-differentiated (anaplastic) thyroid cancer given the abundant necrosis and negative TTF-1 mRNA. Distant metastatic disease was found on PET scan to include brain and lungs. This is a rare (1-2 cases per million), aggressive and often lethal malignancy (1). The mean age at diagnosis is 65 years with 60-70% of tumors occurring in women. Mean survival time is usually less than 6 months with 90% presenting with metastatic disease (2). An enlarging hard and often tender neck mass and cervical lymphadenopathy are typical at presentation. On cytopathology, morphologic patterns include spindle cell, pleomorphic giant cell +/- squamoid with extensive necrosis is typical as seen in our patient. There is no effective therapy for metastatic anaplastic thyroid cancer with few randomized control trials evaluating different strategies. Our patient underwent total thyroidectomy with tracheostomy tube placement to protect her airway. Resection of the dural-based mass revealed metastatic ATC. In addition to surgery, chemotherapy and radiation have been used as well as mutation directed ( BRAF and p53 are common in anaplastic) therapy but studies have been small and only showing a 29% response rate (3). Radiation and chemotherapy were planned but ultimately, the patient chose to forgo further therapy and return to her native country of Kenya. References: 1) Akslen LA, et al. Incidence of thyroid cancer in Norway 1970-1985. Population review on time trend, sex, age, histological type and tumour stage in 2625 cases. APMIS.1990;98:549. 2) Nagaiah G, et al. Anaplastic Thyroid Cancer: a review of epidemiology, pathogenesis, and treatment. J Oncol 2011; 2011: 542358. 3) Hyman DM, et al. Vemurafenib in Multiple Nonmelanoma Cancers with BRAF V600 Mu...
Introduction Pheochromocytoma can be diagnosed by fractionated plasma and urinary metanephrines. However, these tests have several diagnostic issues. Drugs, such as tricyclic antidepressants, and diets both can affect biochemical testing. We report a patient who was consuming a catecholamine rich diet in the form of smoothies which resulted in falsely elevated metanephrines. Case history A 37-year-old female was seen in 2021 for evaluation of secondary hypertension. Patient had a history of intermittent palpitations but denied headaches or excessive sweating. She was taking amlodipine 5mg daily and potassium chloride 20mg daily. Significant past medical history included a partial nephrectomy for renal cell cancer at the age of 35 years. She denies family history of pheochromocytoma or MEN 2. Vital signs showed HR 70/min, BP 138/80 mm Hg. Examination of the heart, lungs and abdomen was normal. Skin exam revealed no bruises or abdominal striae. Labs revealed normal CBC, serum K 3.4, aldosterone 20.1 ng/dL (ref 0.0 - 30.0), renin 1.165 ng/mL/hr (0.167-5.360). Following 1-mg dexamethasone suppression test, serum cortisol was 1.0 mcg/dL. Plasma normetanephrine 113.8 pg/mL (0.0 - 110.1), metanephrine 26.1 pg/mL (0.0 - 88), 24-hour urine metanephrines 465 mg/24hr (74 - 297), normetanephrine 963 mg/24hr (105 - 354). Due to the discordant values between the plasma and urinary metanephrines, a detailed history was taken which revealed that her diets included smoothies, consisting of pineapple juice, bananas, papaya, mango, and sea moss. She drank 15 ounces 3 times per week. Additionally, she was also consuming 1 cup of pistachios and 1 cup of elderberries daily. Patient was counseled to stop drinking the smoothies, and eating pistachios and elderberry. Six weeks later her 24-hour urine metanephrines and normetanephrines returned at 80 mcg/24 hrs and 243 mcg/24 hrs, respectively. Additionally, CT of the adrenal glands confirmed normal adrenal glands. Conclusion Previous studies have shown that catecholamines from dietary sources can dramatically affect plasma as well urinary concentrations of the 3-O methylated metabolites of catecholamines. In our patient, consumption of catecholamine rich foods such as bananas, oranges, pineapples, and possibly elderberry may have contributed to the false positive results. Additionally, the discrepancy between the baseline plasma and urine metanephrines, the normal adrenal glands on CT and normalization of the metanephrines after discontinuing the smoothie diets confirmed that the false positive laboratory values indeed resulted from dietary influence. It is recommended that a detailed dietary history be taken prior to ordering laboratory testing for catecholamine-secreting tumors. Possible interfering medications and catecholamine rich foods should be discontinued, if possible, before biochemical testing to avoid false positive results. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
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