Thyroid gland is among the many organs that could be infiltrated in systemic amyloidosis. However, diffuse infiltration of the thyroid gland secondary to systemic amyloidosis associated with Familial Mediterranean fever (FMF) is rare. Here, we present a 49-year-old woman diagnosed with FMF and systemic amyloidosis, who had a large goiter and multiple nodules that developed slowly through the years and was complicated by tracheal compression symptoms and a mild thyroid dysfunction. Multiple fine needle aspiration biopsies of the nodules and the thyroid parenchyma revealed amyloid deposits. We would like to point out that amyloidosis may have a significant impact on the thyroid gland and fine needle aspiration biopsy is a valuable tool for diagnosis.
"The most commonly reported clinical features of these patients are rapid, painless thyroid gland enlargement that may be associated with dysphagia, dyspnea, or hoarseness [15,16]. AG has been infrequently described [16,18] and most of the reported cases mainly refers to patients suffering from systemic amyloid A (AA) amyloidosis or long-standing predisposing diseases [19,20]. Palpable neck masses are not a rare occurrence, some time representing a challenging diagnostic dilemma with unusual extrathyroidal masses [21,22]. "
[Show abstract][Hide abstract] ABSTRACT: Background
Amyloidosis is a systemic disease characterized by the extracellular deposition of amyloid fibrils in different organs and tissues. The thyroid gland may be affected by diffuse or nodular amyloid deposits, along with multiple myeloma (MM) (Amyloid Light-Chain Amyloidosis, AL amyloidosis) or chronic inflammatory diseases (Amyloid A Amyloidosis, AA amyloidosis), but thyroid gland involvement rarely appears as the first clinical manifestation in both conditions. The present study reports a case of primary thyroidal nodular amyloid goiter diagnosed by fine-needle cytology (FNC) in an elderly patient.
A 66-year-old female patient presented with dysphagia and hoarseness; the patient suffered from rheumatoid arthritis but did not have kidney failure or altered thyroid function. Ultrasound examination (US) showed a 30 mm irregular, hypoechoic area in the left thyroid lobe. FNC showed abundant, dense and amorphous material similar to the one stained in purple at Diff-Quik stain and pinkish at the Papanicolaou. Spindle cells with thin, bland and bent nuclei were scattered in this material; few thyroid follicular cells were also present. An alcohol-fixed smear was stained with Congo red: the amyloid material appeared cherry red and it also showed apple-green birefringence when observed with a polarizing microscope. A differential diagnosis between different thyroid pathologies was considered and the cytological diagnosis of nodular amyloid goiter was pointed out. The patient underwent thyroid lobectomy and the subsequent histological examination confirmed the cytological diagnosis.
FNC is a safe and effective procedure for the diagnosis of thyroid amyloidosis. Congo red-stained smears can be used to demonstrate the presence of amyloid material, showing the typical green birefringence under polarized light. An early and accurate cytological diagnosis may suggest an hematological screening and the appropriate treatment for the thyroid nodule.
BMC Surgery 10/2013; 13(Suppl 2):S43. DOI:10.1186/1471-2482-13-S2-S43 · 1.40 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: When present in thyroid, amyloid is an attribute almost always restricted to medullary thyroid carcinoma. Scant studies in the literature have demonstrated this finding in other thyroid pathologies as papillary thyroid carcinoma, amyloid goiter, and other benign entities. From our experience in thyroid pathology, we analyzed cases on which the stroma contained deposits of amorphous, acellular, and eosinophilic material characteristic of amyloid. Congo red stain on suspicious cases was performed; clinicopathologic investigation was done when results were positive. Seven patients with amyloid infiltration in the thyroid, in association with papillary thyroid carcinoma, and in 4 cases of benign pathologies were found in our own review. The association of amyloid and thyroid is discussed herein, including cases of systemic amyloidosis, malignancies, benign diseases, and thyroid goiter, from our practice and from the available literature.
[Show abstract][Hide abstract] ABSTRACT: Background:
Familial Mediterranean Fever (FMF), also inherited with autosomal recessive trait, is characterized by recurrent episodes of fever, arthritis, and serositis. Congenital Byler Syndrome (Progressive Familial Intrahepatic Cholestasis) inherited with autosomal recessive trait and characterized by defective secretion of bile acids. FMF associated Amyloid A deposition occurs in many tissues and organs, but amyloid goiter is a rare entity that leads to enlargement and dysfunction of the thyroid.
We present a rare case of 24 year old male patient who had liver and kidney transplantation due to Byler Syndrome and secondary amyloidosis related to FMF, diagnosed as rapidly growing large amyloid goiter. Deposits of extracellular amyloid and dense adipose metaplasia diagnostic for amyloid goiter are determined upon histopathological examination of thyroidectomy material.
When goiter was detected in cases with history of systemic amyloidosis and rapidly growing goitre, amyloid goiter should be remembered at first. This case is unique since two autosomal genetic disorders are together in the same patient and important as it emphasizes the consequences of consanguineous marriage, early diagnosis and treatment compliance of FMF and the awareness of amyloid goiter in patients followed by primary care physicians and healthcare professionals.
Balkan Journal of Medical Genetics 09/2014; 31(3):261-3. DOI:10.5152/balkanmedj.2014.13111 · 0.50 Impact Factor
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