Endocrine involvement In systemic Amyloidosis complicating FMF, Case Report from Cairo University

April 12, 2020

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Global Journal of Diabetes, Endocrinology & Metabolic Disorders
Volume 1, Issue 1, June 2020, Pages: 1-12
Received: Mar. 17, 2020; Accepted: Apr. 17, 2020; Published: Apr. 27, 2020

Authors: Prof. Tareq Ali, Professor of internal medicine and Endocrinology, School of Medicine, Cairo University, Egypt and Senior Consultant Physician, internal medicine, UAE

Abstract:

Familial inflammatory polyserositis, or traditionally called FMF, is an autosomal recessive disease with intermittent febrile episodes or attacks associated with acute, or subacutem Abdominal Pain, with or without Chest pain and acute arthritis and joint pains and occasionally other features. The most drastic complication of this inflammatory systemic disorder is Systemic Amyloidosis with renal involvement (Nephropathy) ending in life-threatening End-Stage CKD, and less frequently, as we report in our case, Endocrine and possible Neurological involvement with its clinical sequelae, due to pathologic Brain and peripheral endocrine organ amyloid infiltration.

Keywords: Endocrine, Case Report, Clinical Implications, Abdominal Pain.

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To citation of this article: Tareq Ali, Endocrine involvement In systemic Amyloidosis complicating FMF, Case Report from Cairo University, Global Journal of Diabetes, Endocrinology & Metabolic Disorders.

The discovery of the Genetic basis of FMF in the late 90s helped researchers and clinicians in a better understanding of the pathophysiology, Molecular basis and the BIOLOGIC natural history of this disease and its complications. Unfortunately, there is still a lot of controversies and vagueness surrounding the science of evolution and progression of S. Amyloidosis in FMF and its pathology and clinical sequelae, including its multisystemic effects, both renal and Non-, or extra-, Renal. Among the common, although rarely reported, extra-renal involvement sites is the Endocrine glands or organs, particularly the thyroid, parathyroid, pituitary, and the Endocrine Pancreas. With consecutive dysfunction of these organs, endocrine dysfunction manifestations will arise as describes in our case.

Most of the previous reports covering North African Jewish FMF cases found that M694V is the leading mutation among patients who developed systemic Amyloidosis. However, other researchers also found that other gene mutations might also be there and could play a role in systemic amyloidosis vulnerability in FMF patients. The molecular biology of systemic amyloidosis complicating FMF and its clinical implications, especially selective involvement of endocrine tissues, need to be further elucidated, specified, and investigated. Interpretation of research data and its clinical repercussions, especially as regards to early detection, diagnosis, and treatment (with early regular colchicine or other therapy initiation) is a very complicated and challenging issue which awaits further meticulous study to better understand the so-called genotype-Phenotype correlation in FMF.