Sheppard Siegal Syndrome (Familial Mediterranean fever): The Value of Serum Amyloid a in the Diagnosis and Treatment Decision

Abstract

Background: Sheppard Siegal syndrome was first described in 1945 by Sheppard Siegal. He described in details an extraordinary syndrome that was often undiagnosed because it was not clearly understood. The syndrome described by Siegal is characterized by recurrent attacks of fever, and commonly begins during childhood, and may begin as early as seven months. Attacks of the syndrome usually last two to three days and, often recur every few weeks. Siegal emphasized that progressive renal disease in the form of amyloidosis or chronic glomerulonephritis is the most serious organ involvement. Four mutations in the MEFV gene have been reported to account for 86% of the mutations causing Sheppard Siegal syndrome. Colchicine has been used for the treatment and prevention amyloidosis. Patients and methods: The father of a 3.5-year Iraqi boy (Born on the 19th of March, 2018) of Kurdish origin living in Dubai consulted us during September, 2021 about the appropriate treatment of his son who was experiencing recurrent attacks of high fever over about one year. He consulted us after consulting few physicians in Dubai who were prescribing oral and injectable acetaminophen for the symptomatic control of fever during the attacks. The case was studied and an evidenced-based recommendation is presented in this paper. Results: The attacks of fever were persisting for few days and were not generally associated with mo other significant symptoms other than the general ill health and tiredness that can be associate with fevers of various etiologies. Between the attacks, the boy was in good health and had normal activity. The father was unaware of a similar illness in their relatives. Serum amyloid A (EIA) was performed during the last attack of fever during August, 2021, and was very high (517mg/L), as the normal level is less than 6.40517mg/L. Analysis of regions of the MEFV gene showed no pathogenic variants were detected. Conclusion: We have recommended monitoring serum amyloid A during attack free periods, and initiate colchicine therapy if serum amyloid A was found high to prevent the development of amyloidosis according to the evidence provided by Berkun et al (2007).