Amyloid Goiter as a Manifestation of Primary Systemic Amyloidosis

Department of Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
Thyroid (Impact Factor: 4.49). 02/2007; 17(1):77-80. DOI: 10.1089/thy.2006.0045
Source: PubMed


Primary amyloidosis involving the thyroid gland is rare and limited to case reports. We report the case of a previously healthy 47-year-old female presenting with a 1-month history of nausea, vomiting, and diffuse thyroid enlargement. Over the next 3 months, she simultaneously developed renal insufficiency dysphagia and hoarseness of voice. Biopsies from the gastric antrum, duodenum, bone marrow, and kidney were positive for vascular deposition of amyloid. Ultrasound of the thyroid revealed diffuse enlargement of the thyroid gland, which was 32.8 ML in volume, with diffuse hyperechogenicity. Fine needle aspiration (FNA) biopsy was positive for amyloid by Congo red staining, and cytology was negative for malignancy. The patient was treated with dexamethasone 40 mg daily on days 1-4, 9-12, and 17-20 for 3 months. On 3-month follow-up, the patient's nausea and vomiting had resolved and renal insufficiency improved. Ultrasound of the thyroid demonstrated decrease in the size of the goiter to 23.2 ML. Amyloid goiter is seen only in approximately 0.04% of patients with primary systemic amyloidosis. No data is currently available regarding treatment of primary amyloidosis and its effect on the goiter. However, we have evidence demonstrating that successful treatment of amyloidosis decreases thyroid enlargement and improves organ dysfunction.

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    • "FNA examination, surgery was performed rather than diagnosing a systemic amyloidosis preoperatively. In the literature , there are findings about the decreasing in the symptoms and amyloid goiter after treatment of the primary disease [9]. In autopsy studies, amyloid material is found in the thyroid gland of 80% of patients with SA and 50% of patients with PA. "
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    ABSTRACT: Amyloidosis refers to a variety of conditions in which amyloid proteins are abnormally deposited in organs and/or tissues. The most common forms of systemic amyloidosis are primary amyloidosis (PA) of light chains and secondary amyloidosis (SA) caused by chronic inflammatory diseases such as rheumatoid arthritis (RA). Although involvement of the thyroid gland by amyloid is a relatively common phenomenon, clinically significant enlargement of the thyroid owing to amyloid deposition is a rare occurrence. In SA, the deposition of amyloid associated (AA) protein is associated with atrophy of thyroid follicles. The clinical picture of these patients is characterized by rapid, painless thyroid gland enlargement which may be associated with dysphagia, dyspnea, or hoarseness. Thyroid function is not impaired in most cases. Although amyloid goitre secondary to systemic amyloidosis due to chronic inflammatory diseases is relatively common, specifically related to RA is much more uncommon one and it is reported less in the literature. In this report, A 52-old-year female patient with amyloid goiter associated with amyloidosis secondary to rheumatoid arthritis is presented.
    Case Reports in Medicine 12/2013; 2013:792413. DOI:10.1155/2013/792413
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    • "Amyloid goiter may be diagnosed by cytopuncture [3] [4], although there is a problem of differential diagnosis with medullary carcinoma, where amyloid deposit is also found in 50% to 80% of cases. Cytopuncture does, however, exclude other thyroid cancers, notably anaplastic cancer and lymphoma [6]. Anatomopathology enables positive diagnosis in case of amyloid deposit detected in the form of an amorphous substance showing yellow-green double refraction under polarized light on Congo red staining. "
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    ABSTRACT: Amyloidosis is an abnormal extracellular deposit, which can occur in several tissues. The mechanism is not clearly defined. In systemic amyloidosis, all the organs can be infiltrated, but amyloid goiter as the initial manifestation of systemic amyloidosis is an exceedingly rare condition. We report a rare case of a patient who presented an amyloid goiter as the first manifestation of systemic amyloidosis. This patient had a known Crohn's disease. He developed a goiter without compressive complications. Histologic examination revealed a diffuse amyloid deposition surrounding thyroid follicles. The gland was enlarged with an eosinophilic and amorphic deposit. Confirmation of amyloid was made by the presence of congophilia and apple-green birefringence under polarized-light microscopy. An immunoreactivity was seen with AA protein. Amyloid goiter is a rare manifestation of amyloidosis. About 250 cases of amyloid goiter have been reported in the literature. The goiter enlarges rapidly and progressively, often becoming compressive like thyroid cancer. The prognosis depends on the treatment of the amyloidosis and the underlying chronic disease.
    European Annals of Otorhinolaryngology, Head and Neck Diseases 06/2010; 127(3):108-10. DOI:10.1016/j.anorl.2010.02.013 · 0.82 Impact Factor
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    ABSTRACT: In systemic amyloidosis, several imaging techniques can be used to detect the presence, extent, and localization of amyloid deposits, to monitor their progression and regression, and to assess organ involvement and dysfunction. The presence of heart involvement is the main prognostic determinant and most efforts have been directed to the evaluation of cardiac amyloidosis. Heart involvement is classically diagnosed based on increased ventricular wall thickness and myocardial echogenicity (often referred to as “granular sparkling”) at echocardiography. However, more refined echocardiographic techniques, such as myocardial integrated backscatter, tissue Doppler, and strain imaging can provide evidence of early heart involvement and add functional and prognostic information. Magnetic resonance imaging (MRI) and cardiac scintigraphy with radiolabeled phosphate derivatives showed good sensitivity and specificity in the detection of heart involvement. In particular, scintigraphy with radiolabeled aprotinin can detect early amyloid deposits in the heart. Scintigraphy has the advantage of specific tissue characterization. The prototype of a specific amyloid tracer is iodinated serum amyloid P component (I-SAP). Scintigraphy with I-SAP is a useful complement for the diagnosis and provides an estimation of amyloid load, and serial studies can reveal disease progression and regression. However, I-SAP scintigraphy cannot image the heart. Anatomo-functional imaging, via ultrasound, computed tomography, and MRI scanning, is useful in the diagnosis and follow-up of localized amyloidosis. Accurate imaging of amyloid deposits can now be combined with the biochemical assessment of organ, particularly cardiac, damage and with reliable measurement of the circulating precursors. This will improve the care of patients with amyloidosis and shed light on the pathogenesis of organ damage. KeywordsAmyloidosis-Imaging-Diagnosis-Scintigraphy-I-SAP-Aprotinin-Ultrasound scan-Echocardiography-Magnetic resonance imaging-Computed tomography
    Amyloidosis, 01/1970: pages 15-32;
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