Background Amyloid cardiomyopathy is a polymorphic condition with heterogeneous prognosis. Whereas AL amyloid cardiomyopathy is the most frequent type of amyloid cardiopathy, transthyretin (TTR) amyloidosis is often under diagnosed. TTR gene sequencing may be easily performed although usually used after a histological proof of amyloidosis is obtained. We conducted a prospective study to evaluat...

Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...

BACKGROUND Primary immunoglobulin light chain amyloidosis (AL amyloidosis) is a plasma cell disorder which mainly affects heart, kidneys, liver, and peripheral nervous system. Cases of atypical AL amyloidosis presented as spontaneous vertebral compression fractures have been rarely reported, and data about the management and clinical outcomes of the patients are scarce. METHODS Herein, we pre...

A case of generalized amyloidosis associated with cyclic neutropenia is presented. A 24-yr-old female with cyclic neutropenia died from intestinal obstruction caused by necrosis and perforation of the small intestine. Post-mortem examination revealed generalized amyloidosis involving almost all organs. Amyloid deposits were prominent, especially in the alimentary tract, kidneys, spleen, and sma...

Urethral amyloidosis is a rare condition in which eosinophilic amyloid proteins are deposited in the urethra. Only a small number of reports on urethral amyloidosis have been published. Increased interest has been associated with this disease due to its clinical similarities with urothelial carcinoma. A biopsy of the lesion and a histological examination are essential for the correct diagnosis....

There is no specific therapy for primary amyloidosis, and acquired generalised amyloidosis can be treated only if the underlying disease is eliminated. In this study we have investigated the role of colchicine therapy in primary amyloidosis, and dimethylsulphoxide (DMSO) in leprosy associated secondary amyloidosis. No effect on creatinine clearance or 24 h proteinuria could be observed in the p...

Systemic amyloid light chain (AL) amyloidosis (previously known as primary amyloidosis) is a multisystem disease characterized by the extracellular deposition of fibrils composed of immunoglobulin light chains within various organs. AL amyloidosis is associated with different types of monoclonal plasma cell dyscrasias, including multiple myeloma and other monoclonal gammopathies.1 Cardiac invol...

AA amyloidosis is one of the principal causes of morbidity and mortality in captive cheetahs (Acinonyx jubatus), which are in danger of extinction, but little is known about the underlying mechanisms. Given the transmissible characteristics of AA amyloidosis, transmission between captive cheetahs may be a possible mechanism involved in the high incidence of AA amyloidosis. In this study of anim...

Primary localized cutaneous amyloidosis (PLCA) is caused by the extracellular deposition of amyloid material in the skin without other cutaneous or systemic organ involvement. PCLA is classified into lichen, macular,and nodular amyloidosis. Macular amyloidosis and lichen amyloidosis are named as biphasic amyloidosis when they are concurrently seen in a patient. The treatment of this disease is ...

Cardiac involvement occurs frequently in primary amyloidosis and is associated with heart failure hospitalizations and poor survival. The initial presentation of the disease may be misleading, resulting in under-diagnosis of cardiac amyloidosis and late initiation of treatment. We present a case of cardiac amyloidosis initially misdiagnosed as hypertrophic cardiomyopathy and we discuss the key ...