Familial Mediterranean Fever Complicated by a Triad of Adrenal Crisis: Amyloid Goiter and Cardiac Amyloidosis

Background. FMF is a common disease in the Mediterranean populations and may be complicated by AA amyloidosis. The coexistence of adrenal and thyroid amyloidosis in AA amyloidosis secondary to familial Mediterranean fever (FMF) is an extremely rare reported condition. We presented a previously unreported triad of adrenal, thyroid, and cardiac amyloidosis secondary to FMF. Presentation of Case. We reported a 23-year-old Palestinian male patient presented with hypotension, vomiting, diarrhea, and abdominal pain. The patient was subsequently diagnosed to have an adrenal crisis with both amyloid goiter and cardiac amyloidosis. Conclusion. It is crucial to recognize the adrenal crisis in patients with AA amyloidosis secondary to FMF who present similarly to acute FMF inflammatory episodes. The adrenal crisis has high morbidity and mortality, especially if not recognized early in the course of the disease.

MON-469 Rapidly Expanding Thyroid Goiter as the First Manifestation of Systemic Amyloidosis

INTRODUCTION Amyloidosis is a condition manifesting with extracellular tissue deposition of fibrils of low molecular weight proteins. In Ig light chain amyloidosis (AL), the deposition of Ig light chains can cause organ dysfunction, and patients can have involvement of a range of organs including kidney (70%), liver (70%), heart (60%), peripheral nerves (20%), the tongue, skin, and the coagulation system (1). We describe a unique case of AL amyloidosis, which first presented with thyroid involvement. CLINICAL CASE A 78 year old female patient with hx of small lymphocytic lymphoma and normal thyroid function presented with an expanding symptomatic goiter and compressive symptoms (positive Pemberton sign) for which a total thyroidectomy was performed. Pathology showed Congo red-birefringent amyloid deposition. SPEP showed a small amount of M protein, with circulating monoclonal free lambda light chain on immunofixation. The free kappa lambda light chain ratio was low (0.04) with an elevated serum free lambda light chain (283.93). Mass spectrometry confirmed AL light chain amyloidosis - lambda type. A work up was initiated to assess other organ involvement. Echocardiogram showed mild thickening of left ventricle with a preserved EF and EKG showed low voltage in limb leads. Creatinine (1.05) was minimally elevated from baseline with minimal proteinuria (396 mg/24 hours). Alkaline phosphatase, APTT, and PT were normal. The patient described tongue enlargement and scalloping of the tongue from tooth impingement was seen. Biopsies of tongue and bone marrow also showed amyloidosis thereby securing the diagnosis of systemic amyloidosis, and chemotherapy was initiated. CONCLUSION This case illustrates the importance of considering amyloid goiter in the differential for a rapidly enlarging thyroid, even when there is no history of amyloidosis. Although extremely uncommon, a few case reports have described amyloid goiter. In our case, thyroid AL was the initial presentation of systemic amyloidosis. Because disease can be localized or systemic, work up should include an assessment for the presence of a monoclonal gammopathy and an assessment for amyloid mediated organ dysfunction. Tissue should be sent for amyloid typing – there are 35 different proteins known to form amyloid fibrils and prognosis and treatment depends on amyloid type (2). Typing using Liquid Chromatography-Tandem Mass Spectrometry, is the most sensitive and specific methodology, though, in experienced hands, typing by immune histochemistry is an option. REFERENCES 1. Rajkumar, S.V., Dispenzieri, A. Clinical presentation, laboratory manifestations, and diagnosis of immunoglobulin light chain (AL) amyloidosis. Uptodate. 2019. 2. Winter, M., Tholey, A., Kristen, A., Röcken, C. MALDI Mass Spectrometry Imaging: A Novel Tool for the Identification and Classification of Amyloidosis. Proteomics 2017, 17, 1700236.

An Unusual Amyloid Goiter in a 48-Year-Old Woman with Rheumatoid Arthritis, Secondary Amyloidosis and Renal Failure

Amyloid goiter (AG) is characterized by the presence of deposits of amyloid protein in the thyroid tissue in sufficient amounts to produce enlargement of the gland, accompanied by fat deposition or thyrolipomatosis. It can be seen in long-standing inflammatory disorders, with the common characteristic of amyloidotic renal failure. In daily practice, practitioners should pay attention to the differential diagnosis in patients with suggestive co-morbidities for amyloidosis. The clinic is a progressive increase of the thyroid gland with compressive symptomatology (dyspnea, dysphagia, and changes in the voice). The main imaging finding is diffuse fatty infiltration of the thyroid. The amyloid goitre was most probably in the general context of amyloidosis, regardless of the other complications. We present a case of a 48-years-old female with amyloid goiter secondary to rheumatoid arthritis and renal failure.

AMYLOID GOITER AS THE FIRST RECOGNIZABLE MANIFESTATION OF IMMUNOGLOBULIN LIGHT CHAIN AMYLOIDOSIS

Objective: Clinically apparent thyroid enlargement due to massive amounts of amyloid deposition, known as amyloid goiter, is rare. Endocrinologists should become familiar with this manifestation of systemic amyloidosis, which may be diagnosed by Congo red staining of the specimen obtained by fine-needle aspiration. Methods: We describe a 70-year-old man who presented with a slowly enlarging goiter. It was asymptomatic, predominantly left-sided, nontoxic, and multinodular with atypia of undetermined significance (Bethesda System category III) by cytology. The goiter tested negative using the ThyraMIR miRNA Gene Expression Classifier kit (eviCore Healthcare, Bluffton, SC). Results: Left thyroid lobectomy produced a 220-g specimen with nodular hyperplasia and prominent amyloid deposition confirmed by Congo red staining. Liquid chromatography tandem mass spectrometry detected a peptide profile consistent with light chain amyloid deposition of the lambda type, formerly called primary amyloidosis. In retrospect, he had been diagnosed with restrictive cardiomyopathy, cardiac conduction system disease, coronary artery disease, non-nephrotic range proteinuria, and chronic kidney disease, which had been attributed to his longstanding type 2 diabetes mellitus. Extensive workup subsequently demonstrated cardiac amyloidosis and monoclonal gammopathy of unknown significance, consistent with light chain amyloidosis. Conclusion: Amyloid goiter should be included in the differential diagnosis of enlarging goiters with Bethesda System category III cytology in patients with monoclonal gammopathy of uncertain significance, clinical manifestations of systemic amyloidosis, or known diagnosis of monoclonal cell dyscrasia.

Thyrolipoma: A Rare Thyroid Gland Entity

Fat-containing thyroid swellings are rare with limited differentials including lipomatous goiter, heterotopic thyroid rests, amyloid goiter, lymphocytic thyroiditis, Grave’s disease, adenolipoma, intrathyroid thymic or parathyroid lipoma, encapsulated papillary carcinoma, and liposarcoma etc. We present a case of a 60-year-old euthyroid female with a long standing thyroid swelling radiologically and pathologically diagnosed as thyrolipoma (adenolipoma). Thyrolipomas are occasionally diagnosed. However, these lesions are considered to be benign and are treated surgically.