Diarrhea as an Initial Presentation in Patients with Medullary Thyroid Cancer: Delaying the Diagnosis

Shakir, Mohamed K M; Spiro, Andrew J.; Vinh, Q.; Hoang, Thanh D.

doi:10.1159/000508850

Cited by 5 publications

(3 citation statements)

References 12 publications

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“…Additionally, symptoms of hyperthyroidism such as palpitations, heat intolerance, sweating, tremors, anxiety, and fatigue might coexist, exacerbating gastrointestinal distress. Hyperthyroidism associated chronic diarrhea is associated with signs of malabsorption, so a thorough clinical approach is required to exclude the other causes of chronic diarrhea [3]. Currently, the patient got operated after the radioactive iodine scan confirmed the presence of multi-nodular goiter and is now on maintenance dose of tablet Thyroxine 50mcg 2 tablets per oral once daily.…”

Section: Introductionmentioning

confidence: 99%

Exploring the Triad of Thyroid Dysfunction, Chronic Diarrhea and Anemia

Hafeez,

Shafqat,

Rehman

et al. 2024

AJIM

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Hyperthyroidism, a disorder characterized by excessive thyroid hormone production, typically presents with many symptoms including weight loss, tremors, and heat intolerance. However, in rare instances, it can manifest solely as chronic diarrhea, posing a diagnostic challenge. This case study aims to highlight an unusual presentation of hyperthyroidism and underscore the importance of considering thyroid disease in the differential diagnosis of chronic gastrointestinal symptoms. We present the case of a fifty-year-old woman who, six months prior to her ER visit, had been experiencing severe weight loss and diarrhea along with anemia. Despite her lack of typical hyperthyroidism symptoms, a thorough investigation revealed that hyperthyroidism was the underlying cause of her gastrointestinal issues. This case illustrates that hyperthyroidism can present atypically, solely as chronic diarrhea. The patient's anemia was linked to iron deficiency, worsened by chronic gastrointestinal loss and the hyper metabolic state induced by hyperthyroidism. Treatment of the hyperthyroidism led to significant improvement in her gastrointestinal symptoms and correction of the anemia. This case underscores the critical need to include thyroid disease in the differential diagnosis for patients with chronic diarrhea and weight loss, even in the absence of typical hyperthyroid symptoms. Early recognition and appropriate management of hyperthyroidism can significantly improve patient outcomes by alleviating gastrointestinal manifestations and correcting associated anemia. Clinicians should maintain a high index of suspicion for thyroid dysfunction in patients presenting with unexplained chronic diarrhea and weight loss to ensure timely and accurate diagnosis and treatment.

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Section: Introductionmentioning

confidence: 99%

Exploring the Triad of Thyroid Dysfunction, Chronic Diarrhea and Anemia

Hafeez,

Shafqat,

Rehman

et al. 2024

AJIM

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“…High-burden disease may also lead to paraneoplastic diarrhea, which can be debilitating and is often refractory to antimotility agents. Although incompletely understood, MTC-related diarrhea is thought to result from tumoral secretion of various substances, including calcitonin, prostaglandins, and/or serotonin [ 4 ]. Somatostatin analogs achieve only modest symptom improvement, while tumor debulking, by reducing the humoral secretion of pro-diarrheal substances, is often effective in alleviating the diarrheal syndrome [ 2 , 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

Paraneoplastic Diarrhea From Medullary Thyroid Carcinoma Resolved With Yttrium-90 Radioembolization of Liver Metastases

Hamidi,

Mahvash,

2024

JCEM Case Reports

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Medullary thyroid carcinoma (MTC) can often have an indolent course despite distant metastatic disease. Additionally, given that metastatic MTC is incurable and systemic therapies have non-negligeable toxicities, localized treatments are often favored in presence of oligo-progressive disease. Transarterial radioembolization (TARE) with yttrium-90 (Y90) has emerged as a safe and efficacious treatment for nonresectable primary and metastatic liver tumors, yet data supporting its use in metastatic MTC are limited. We present the case of a patient with hereditary MTC and large bilobar liver metastases who demonstrated tumor response and resolution of their paraneoplastic diarrhea following TARE with Y90 microspheres.

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“…On presentation, half of patients have localized disease, 35% extending into surrounding tissues, and 13% with distant metastasis [10]. Approximately 30% of patients present with diarrhea or flushing, and unfortunately this may delay the diagnosis as non-thyroidal etiologies are investigated, though these symptms are associated with more advanced disease with liver metastasis [8,11,12]. ACTH production from the malignant C cells may also cause Cushing's syndrome.…”

Section: Introductionmentioning

confidence: 99%

Diagnostic Challenges of Medullary Thyroid Carcinoma

2021

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Background: Medullary thyroid carcinoma (MTC) comprises 1–2% of all thyroid cancers, yet 15% of all thyroid cancer-related deaths. While up to 20% of cases may be predicted due to autosomal dominant germline mutations, 80% of cases are sporadic. However, due to non-specific presenting symptoms and diagnostic imaging, prompt diagnosis and treatment has remained elusive. This article will further investigate the limitations of MTC diagnosis and look into future areas for diagnostic improvement. Methods: Relevant articles were identified using a systematic PubMed and Google Scholar search. Results: Prophylactic total thyroidectomy for the 20% of MTC cases that are present in autosomal dominant disorder provides definitive treatment. Serum calcitonin (Ctn) screening has several technical limitations due to population variability and laboratory assay interference, but advances in laboratory technology and combined use with fine needle aspiration increase its sensitivity. Other serum assays such as carcinoembryonic antigen and procalcitonin have limited applicability. Thyroid ultrasound remains the gold standard for the initial diagnostic planning, with limited application for CT, MRI, and PET imaging. Conclusion: With complete surgical resection the only definitive treatment, early MTC diagnosis has presented an elusive challenge, mainly due to its relative rarity and difficulty in finding an economic screening strategy. Careful family history combined with fine needle aspiration with serum Ctn analysis can improve diagnostic sensitivity and specificity to greater than 95%.

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Diarrhea as an Initial Presentation in Patients with Medullary Thyroid Cancer: Delaying the Diagnosis

Cited by 5 publications

References 12 publications

Exploring the Triad of Thyroid Dysfunction, Chronic Diarrhea and Anemia

Exploring the Triad of Thyroid Dysfunction, Chronic Diarrhea and Anemia

Paraneoplastic Diarrhea From Medullary Thyroid Carcinoma Resolved With Yttrium-90 Radioembolization of Liver Metastases

Diagnostic Challenges of Medullary Thyroid Carcinoma

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