Amyloid Goiter Due to Familial Mediterranean Fever in a Patient with Byler Syndrome: A Case Report

Ciğerli, Özlem; Ünal, Aslı Doğruk; Parıldar, Hülya; Demıralay, Ebru; Tarçın, Özlem

doi:10.5152/balkanmedj.2014.13111

Cited by 6 publications

(8 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The incidence of FMF and the frequency of FMF-associated amyloidosis are quite high in Turkey (1,2). The initial diagnosis of FMF relies on clinical suspicion and is based on clinical criteria that consist of acute and reversible serosal attacks, positive family history, and detection of mutations by genetic testing (3). Autosomal recessive monogenic inheritance is relevant for the disease.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of the structure, autoimmunity, and functions of the thyroid gland in familial Mediterranean fever patients

YILMAZ

Çelik

KelesÇ

et al. 2020

Archives of Endocrinology and Metabolism

View full text Add to dashboard Cite

Objective: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder that is frequently seen in the eastern Mediterranean region. The thyroid gland can be affected in FMF patients through autoimmunity or amyloidosis. Here, we aimed to evaluate the structure and functions of the thyroid gland in addition to possible autoimmunity in FMF patients. Subjects and methods: The study was conducted by the Endocrinology and Metabolism and Internal Medicine Departments. Thirty FMF patients and 30 age and gender-matched healthy controls were enrolled in the study. Free thyroxin (fT4), free triiodothyronine (fT3), thyroid-stimulating hormone (TSH), and anti-thyroid peroxidase (anti-TPO) autoantibodies were investigated. Detailed thyroid grayscale and Doppler Ultrasonography examinations and shear-wave elastosonography (SWE) were performed in the patient and control groups. Results: Anti-TPO was detected in 24% (n = 7) of the patients. On the grayscale US, mean thyroid volumes were similar between the FMF and the control groups (p > 0.05). By Doppler US, thyroid vascularity observed was detected in 10.3% (n = 3) of the patients. SWE revealed that the mean velocity value of right vs. left lobe in the patient group was 1.77 ± 0.45 m/s and 1.95 ± 0.51 m/s, respectively. Compared to the control group, the mean velocity values were significantly higher in the right (p = 0.004) and left (p = 0.01) lobes of the patient group. The mean stiffness value in the patient group was also significantly higher in the right and left lobes [10.13 ± 5.65 kPa (p = 0.005) and 12.24 ± 6.17 kPa (p = 0.02), respectively]. Conclusion: Recognizing the complications of FMF early in the course of the disease is as important as the early diagnosis of the disorder. Based on this, thyroid functions and changes in its structure should be evaluated carefully for early diagnosis of a possible coexisting thyroid disorder.

show abstract

Section: Introductionmentioning

confidence: 99%

Evaluation of the structure, autoimmunity, and functions of the thyroid gland in familial Mediterranean fever patients

YILMAZ

Çelik

KelesÇ

et al. 2020

Archives of Endocrinology and Metabolism

View full text Add to dashboard Cite

show abstract

“…After exclusion of irrelevant article (Figure 1), 17 articles were included. Overall, 33 cases were identified [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21]. Table 1 shows the main features of the 42 patients, of whom, 24 were males (57%), mainly from Turkey (54.7%), with an average age of 30 years at diagnosis of goiter.…”

Section: Resultsmentioning

confidence: 99%

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

Vergneault

Terré

Buob

et al. 2021

JCM

View full text Add to dashboard Cite

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.

show abstract

“…Amyloidosis is a complication of hereditary periodic fever syndromes, particularly FMF (Familial Mediterranean Fever). Systemic amyloidosis occurred in 7.6% of FMF patients studied in Turkey, while only 0.27% developed amyloid goitre [2].…”

Section: Figure 3 a Ct Scan Of The Neck With Reconstruction Of The Thyroid And Volumetric Analysis Of The Lobesmentioning

confidence: 95%

When you hear hooves, you should look for... zebras

Zych

Obołończyk

Gorycki

et al. 2020

Endokrynologia Polska

View full text Add to dashboard Cite

show abstract

Amyloid Goiter Due to Familial Mediterranean Fever in a Patient with Byler Syndrome: A Case Report

Cited by 6 publications

References 9 publications

Evaluation of the structure, autoimmunity, and functions of the thyroid gland in familial Mediterranean fever patients

Evaluation of the structure, autoimmunity, and functions of the thyroid gland in familial Mediterranean fever patients

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

When you hear hooves, you should look for... zebras

Contact Info

Product

Resources

About