Amyloid Goiter Research Articles

Amyloid Goiter, Papillary Thyroid Carcinoma, and Diffuse Thyroid Lipomatosis: A Case Report of a Rare Association

Amyloid Goiter, Papillary Thyroid Carcinoma, and Diffuse Thyroid Lipomatosis: A Case Report of a Rare Association

Amyloid goiter: difficulties of differential diagnosis, choice of treatment tactics

Amyloid goiter: difficulties of differential diagnosis, choice of treatment tactics

Amyloid goiter with diffuse thyrolipomatosis: a rare entity

Diffuse thyroid lipomatosis with amyloid deposition is a rare entity. We report a case of a 42-year-old lady who presented with progressive enlargement of the thyroid gland with compressive symptoms. Her thyroid hormone levels were within normal limits. Imaging revealed enlarged thyroid gland with multiple fat density lesions. She underwent total thyroidectomy, and histopathology revealed diffuse infiltration of thyroid stroma by mature adipose tissue and an associated amyloid deposition. A diagnosis of amyloid goiter with diffuse lipomatosis of the thyroid gland was rendered. Only a few cases of diffuse lipomatosis with concurrent deposition of amyloid protein have been reported in the literature.

Long-standing Renal Amyloidosis Leading to Massive Amyloid Goiter

Long-standing Renal Amyloidosis Leading to Massive Amyloid Goiter

A Case of Amyloid Goitre in Heavy Chain Amyloidosis: Diagnostic Challenges and Clinical Implications.

Immunoglobulin heavy chain amyloidosis is an extremely rare subtype of immunoglobulin-derived amyloidosis and amyloid goitre is even rarer.There is limited literature on how to diagnose and manage this disorder.This case portrays one of these cases - one of the few existing in the literature - and reinforces the diagnostic complexity of this entity.

SAT499 Amyloid Goiter: A Case Series

Abstract Disclosure: J. Paz-Ibarra: None. M. Concepción-Zavaleta: None. A.P. Solis Pazmino: None. J. Somocurcio Peralta: None. Background: Amyloid goiter (AG) is a rare presentation of thyroid swelling, characterized by the presence of deposits of amyloid protein in the thyroid tissue, accompanied by fat deposition or thyrolipomatosis. It may occur in 50% and up to 80% of patients with primary and secondary amyloidosis, respectively. Currently, the treatment is surgical resection of the thyroid gland. The present study reports a case series of primary thyroidal nodular amyloid goiter diagnosed by fine-needle cytology (FNC). Clinical cases:There were 2 female and 1 male patient from Peru. All three patients had comorbidities prior to AG diagnosis. F1: 65 years old, history of Rheumatoid Arthritis, Sjogren’s disease nephron Angio sclerosis, and polycystic kidney disease. F2: 67 years old, history of rheumatoid arthritis, end-stage renal disease (ESRD), arterial hypertension. M1: 28-year-old man with a history of pulmonary tuberculosis, bronchiectasis, and ESRD on HD due to renal amyloidosis of 9 years' evolution. They reported dyspnea, dysphagia, and dysphonia. On their physical examination, they had a bilateral, firm, and diffusely enlarged thyroid gland. Her serum T3, T4, and TSH levels were all normal. The PAAF reported a colloid goiter (Bethesda II). A total thyroidectomy was performed, with no complications. 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. Conclusions: Secondary amyloidosis generally has a neoplastic origin or is secondary to chronic inflammatory diseases. The development of a giant goiter with compressive symptoms is the most common form of presentation and represents amyloid infiltration of the gland. Total thyroidectomy is the method of choice for both diagnosis and treatment of amyloid goiter. Histological evaluation of the resected thyroid gland is crucial to make a definitive diagnosis. Presentation Date: Saturday, June 17, 2023

Amyloid goiter in patient with mediteranian fever

Amyloid goiter in patient with mediteranian fever

A Unilateral Rapidly Growing Amyloid Goiter Associated with Osteopetrosis: a Case Report and Literature Review

A Unilateral Rapidly Growing Amyloid Goiter Associated with Osteopetrosis: a Case Report and Literature Review

Amyloid goiter secondary to familial Mediterranean fever with E148Q mutation: A unique case.

Amyloid goiter secondary to familial Mediterranean fever with E148Q mutation: A unique case.

Severe malnutrition associated with amyloid goiter: A case report

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Amyloid Goiter, Papillary Thyroid Microcarcinoma and Diffuse Thyroid Lipomatosis - a case report of a rare association

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

A rare presentation of amyloid goiter with renal amyloidosis in a young female

Amyloidosis is a rare systemic disorder caused by abnormal folding of normal soluble proteins leading to fibril formation in one or more body organs, systems or soft tissues. Amyloid goiter is characterized by deposits of amyloid protein in the thyroid tissue. Amyloid infiltration of thyroid gland with development of secondary goiter is rare. Here we report a case of 36-year-old female presented with progressive painless swelling over neck. Thyroid profile was normal. Ultrasound neck showed enlarged bilateral thyroid gland and isthmus. Fine needle aspiration cytology suggestive of subacute thyroiditis (granulomatous thyroiditis). Total thyroidectomy was done and biopsy sample revealed amyloid goiter.

Extranodal Marginal Zone Lymphoma of the Thyroid with Extensive Amyloid Deposition: A Rare Case Presentation

Abstract Introduction/Objective Extranodal marginal zone lymphoma (MZL) is a rare indolent tumor with the potential of recurrence and systemic spread. Thyroid involvement is infrequently reported, and generally seen in the context of Hashimoto thyroiditis. Additionally, amyloid deposition is an exceptional complication of extranodal MZL. We report an unusual case of a 65-year-old woman with a rapidly growing symptomatic nodule of the right thyroid lobe and a previous inconclusive FNA showing benign lymphoid tissue. She was taken to the OR for diagnostic right thyroid lobectomy with neck level 6 dissection. Methods/Case Report The specimen was sent for histologic evaluation, and showed thyroid with marked amyloid deposition, highlighted by Congo Red special stain, distorting normal architecture. Additionally, significant small atypical lymphoid infiltrate was present. Neoplastic lymphocytes were positive for CD20, PAX5 and CD43. Kappa light chain restriction by kappa ISH stain indicated monoclonality. Conversely, CD138, CD10, BCL6 and CyclinD were negative. Ki-67 demonstrated a 15-20% proliferation index. The germinal centers of the secondary follicles demonstrated diminished CD10 and BCL-6 consistent with follicular colonization by neoplastic lymphocytes. One of the regional lymph nodes displayed involvement by lymphoma with amyloid deposition. Medullary carcinoma of the thyroid was ruled out on the basis of incompatible histologic and immunohistochemical profile. Results (if a Case Study enter NA) NA Conclusion While Medullary carcinoma and amyloid goiter are among the top differentials for extensive amyloid deposition in the thyroid gland, we illustrate the need for judicious review of clinical history and careful consideration of immunohistochemistry workup to establish the unusual diagnosis of extranodal MZL of the thyroid with extensive amyloid deposition.

PSAT181 Amyloidosis as a Possible Cause of Hypoparathyroidism

Abstract Background Hypoparathyroidism is a relatively uncommon metabolic disorder with an estimated prevalence of 37 per 100,000 person-years in the United States. Postsurgical hypoparathyroidism is the most common etiology and accounts for 75% of the cases. Nonsurgical cases are frequently the result of autoimmune or genetic disorders. Rarely parathyroid gland infiltration, external radiation treatment is also known cause hypoparathyroidism. We present a rare case of hypoparathyroidism associated with amyloidosis. Case 61-year-old female presented for evaluation of hypothyroidism and hypoparathyroidism and significant fatigue. Patient was already treated with levothyroxine as well as calcitriol at the time of presentation for management of these issues without improvement in her fatigue. Further review of prior records showed progressive decline in kidney function and albumin, hypothyroidism in addition to worsening hypocalcemia evidenced on ionized calcium levels over a two year period. This also coincided with the duration of the onset of fatigue. Past medical history was also significant for parathyroid surgery for primary hyperparathyroidism 12 years prior to the onset of symptoms. Patient did not develop hypoparathyroidism after surgery but maintained normal calcium levels until onset of symptoms 2 years ago.Physical exam did not reveal any abnormalities. Labs (when patient was receiving calcitriol) revealed a calcium of 9.5mg/dL (8.4-10.2mg/dL), with albumin 2.3g/dL(3.8-5.3g/dL), ionized calcium 1.27mmol/L(1.14-1.33mmol/L), 25-hydroxy Vitamin D 14ng/mL(>/=30ng/mL), PTH 7pg/mL(15-88pg/mL), Phosphorus 3.4mg/dL(2.4-4.8 mg/dL), Magnesium 2.6mg/dL(1.8-3.0 mg/dL), Creatinine 2.45mg/dL(0.40-0.99 mg/dL), eGFR 21 mL/min/1.73m2. She was trialled off calcitriol to assess for improvement of her PTH, however was noted to have inappropriately normal PTH despite hypocalcemia and was restarted on calcitriol. TPO antibody and 21 hydroxylase antibody levels were not elevated. Due to CKD, She underwent kidney biopsy that revealed lambda light chain amyloidosis. Patient is currently receiving daratumumab and Cyclophosphamide-Bortezomib-Dexamethasone and plans to undergo stem cell transplant in future. Conclusion Notably, the occurrence of amyloidosis with hypothyroidism and infiltrative amyloid goiter is well documented. Although prior case studies have detailed the co-occurrence of hyperparathyroidism and amyloidosis, little is known about the relationship of parathyroid disease and amyloidosis. Due to the temporal association of amyloidosis, hypoparathyroidism, and hypothyroidism, we hypothesize that infiltration of these endocrine glands by amyloid has contributed to the dysfunction. The patient will be monitored for improvement in her parathyroid function as the amyloidosis is treated. Further studies are needed to assess the interplay between the parathyroid and amyloidosis. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

A rare case of symptomatic amyloid goiter diagnosed by tru-cut biopsy

A rare case of symptomatic amyloid goiter diagnosed by tru-cut biopsy

Evaluation of multinodular goiter and primary hyperparathyroidism leads to a diagnosis of AL amyloidosis

BackgroundAmyloid goiter, defined as excess amyloid within the thyroid gland in such quantities that it produces a clinically apparent goiter, is a very rare manifestation of systemic amyloidosis with cases commonly seen in the setting of Amyloid A (AA) amyloidosis. Amyloid goiter as the primary clinical manifestation secondary to Amyloid light chain (AL) amyloidosis is very rare. We present a case of AL amyloidosis with initial manifestation as goiter with amyloid deposition in the thyroid and the parathyroid gland.Case PresentationA 73 year old male presented with goiter and compressive symptoms of dysphagia and hoarseness. Laboratory workup revealed normal thyroid function, nephrotic range proteinuria, elevated serum calcium level with an elevated parathyroid hormone level (PTH) consistent with primary hyperparathyroidism. Thyroid ultrasound showed an asymmetric goiter with three dominant nodules. Cervical computed tomography revealed a goiter with substernal extension and deviation of the trachea. Fine needle aspiration was unsatisfactory. There was also evidence of osteoporosis and hypercalciuria with negative Sestamibi scan for parathyroid adenoma. The patient underwent a total thyroidectomy and one gland parathyroidectomy. Pathology revealed benign thyroid parenchyma with diffuse amyloid deposition in the thyroid and parathyroid gland that stained apple green birefringence under polarized light on Congo Red stain. Immunochemical staining detected AL amyloid deposition of the lambda type. Bone marrow biopsy revealed an excess monoclonal lambda light chain of plasma cells consistent with a diagnosis of AL amyloidosis secondary to multiple myeloma affecting the kidney, thyroid, parathyroid gland, and heart. He was treated with 4 cycles of chemotherapy with a decrease in the M spike and light chains with a plan to pursue a bone marrow transplant.ConclusionAmyloid goiter as the primary clinical manifestation secondary to AL amyloidosis with deposition in the thyroid and parathyroid gland is rare. The top differential for amyloid deposits in the thyroid includes systemic amyloidosis or medullary thyroid carcinoma. The definitive diagnosis lies in the histopathology of the thyroid tissue. To diagnose systemic amyloidosis as the etiology for a goiter, a solid understanding of the causes of systemic amyloidosis coupled with a thorough evaluation of the patient’s history and laboratory data is necessary.

Rare cause of thyroid enlargement: Localized AA amyloid goiter - A case report.

IntroductionAmyloidosis is extracellular deposition of fibrillary amyloid proteins in various organs. Amyloid infiltration in thyroid is common; however, the occurrence of clinically enlarged thyroid, subsequently leading to goiter, is a rare phenomenon.Case presentation36 years old female presented to our OPD with multinodular goiter. She subsequently underwent total thyroidectomy. Thyroidectomy specimen revealed amyloid deposition with characteristic congophilia and birefringence. Further evaluation revealed it to be AA amyloidosis. There were no features of systemic amyloidosis.DiscussionAmyloidosis is classified on the type of amyloid protein. Treatment of individual types of amyloidosis is diverse, and hence identification of the protein subtype is paramount.ConclusionAA amyloidosis localized primarily to thyroid is infrequent, as it usually occurs with chronic inflammatory conditions or infections. Currently, there are no guidelines for the treatment of localized AA amyloid goiter. We have evidence demonstrating the successful treatment of such a condition with no recurrence noted.

Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review.

Our aim was to describe the main features of amyloid goiter in adults with amyloidosis secondary to familial Mediterranean fever. Therefore, we analyzed cases from a French cohort of familial Mediterranean fever patients with amyloidosis and from literature review. Forty-two cases were identified: 9 from the French cohort and 33 from literature review. Ninety percent of patients were on hemodialysis for renal amyloidosis before the development of goiter. The goiter grew up rapidly in 88% of cases; 75.6% of patients were euthyroid, 58% displayed dyspnea, and 44.8% dysphagia. Various features were seen on ultrasound, from diffuse to multinodular goiter. When it was performed, fine-needle aspiration biopsy almost always revealed amyloidosis. Thirty-one patients underwent thyroidectomy: to manage compressive symptoms (72%) or rule out malignancy (27%). Histology showed mature adipose tissue in 64% of cases and lymphocytic infiltration in 21.4%. In conclusion, amyloid goiter in familial Mediterranean fever preferentially occurs in patients with end stage renal failure. Fine-needle aspiration biopsy seems to be a sensitive exam for diagnosis, but thyroidectomy remains sometimes necessary to rule out malignancy or release compressive symptoms.

Autopsy findings in a patient with primary systemic AL (kappa light chain) amyloidosis.

ABSTRACTFirst described by Rokitansky in 1842, and further characterized by Virchow in 1854, amyloidosis is a disorder caused by amyloid deposition, a fibrillary insoluble protein. The clinical spectrum of amyloidosis is broad, as the amyloid deposition may virtually occur in all tissues. Herein, we report the case of a 66-year-old man with a long-lasting emaciating disease, diagnosed, at autopsy, with primary systemic amyloidosis. Amyloid protein deposition was found in many tissues and organs. The involvement of the vessels’ wall rendered ischemic injury most prominent in the intestinal loops causing mesenteric ischemia. Despite the thorough organic involvement, the immediate cause of death was aspiration bronchopneumonia. Massive amyloid deposition was found in virtually all major organs, such as the heart, liver, kidneys, spleen, pancreas, adrenals, prostate, skin, and thyroid: the latter, a complication of the amyloidosis known as amyloid goiter. Post-mortem review of the deceased’s laboratory workup showed a slightly abnormal kappa:lambda ratio in the blood; however, no clonal lymphoplasmacytic disorder was confirmed in the bone marrow and other lymphoreticular system organs either by the microscopic examination and immunohistochemical staining. Laser-capture microdissection and tandem mass spectrometry of the splenic tissue detected a peptide profile consistent with an immunoglobulin Kappa light chain. The presence of amyloid purpura favors the diagnosis of primary systemic amyloidosis.

Bocio amiloide, una entidad benigna de rápido crecimiento

Amyloid goitre is an infrequent benign entity characterized by a rapid increase in the size of the thyroid gland due to amyloid deposit in the parenchyma. Such an increase in size, which takes place over only a few months, can cause symptoms such as dyspnea, dysphagia and dysphonia. We present three cases diagnosed in the same centre and estimated its incidence. All cases showed similar morphology, with varying proportions of thyroid follicles, mature adipose tissue and amyloid. AA Amyloid accumulation was verified and associated to previous pathologies (Crohn's disease, juvenile rheumatoid arthritis and chronic renal disease). One case showed a papillary microcarcinoma. Amyloid goitre is an infrequent entity which should be considered in the differential diagnosis of all patients with goitre, especially those with chronic underlying diseases.