Introduction FMF is associated with pulmonary hypertension(PH) due to amyloidosis. However, clinically overt PH with right-sided heart failure remains a rare event limited to few patients with pulmonary amyloidosis secondary to FMF. We report two cases of FMF patients, with and without amyloidosis, who experienced PH with rightsided heart failure. To our knowledge, this is the first case report...

Examination of abdominal subcutaneous fat aspirates is a practical, sensitive and specific method for the diagnosis of systemic amyloidosis. Here we describe the development and implementation of a clinical assay using mass spectrometry-based proteomics to type amyloidosis in subcutaneous fat aspirates. First, we validated the assay comparing amyloid-positive (n=43) and -negative (n=26) subcuta...

Amyloidosis is characterized by the deposition of misfolded protein in various organs. The diagnosis of amyloidosis is based on the detection of amyloid deposits by Congo red stain under polarized microscopy. This study was done to investigate C4d deposition in amyloidosis and to determine whether C4d staining can be used as a new diagnostic tool for amyloidosis. This retrospective study includ...

OBJECTIVE To determine whether or not the use of colchicine decreases the risk of amyloidosis among Armenian patients with familial Mediterranean fever (FMF). SUBJECTS AND METHODS The study included 99 Armenian patients from the Center of Medical Genetics database with genetically ascertained FMF; 33 had renal amyloidosis and 66 were randomly selected control patients without renal amyloidosi...

OBJECTIVE To study amyloidosis as a cause of death along with associated factors and frequency of pre-mortem diagnosis in patients with rheumatoid arthritis (RA) autopsied between 1952 and 1991. METHODS We studied causes of death in 369 consecutively autopsied RA and 370 autopsied non-RA patients of the same sex, age at death, and year of autopsy. In those RA patients who died from 1973 onwar...

BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder, for which systemic AA amyloidosis is the major complication revealed most of the time by renal abnormalities. Current treatment is daily colchicine that prevents both recurrent inflammatory attacks and amyloidosis deposition in most patients. However, some patients still develop amyloidosis and re...

The term "amyloidosis" encompasses the heterogeneous group of diseases caused by the extracellular deposition of autologous fibrillar proteins. The global incidence of amyloidosis is estimated at five to nine cases per million patient-years. While amyloid light-chain (AL) amyloidosis is more frequent in developed countries, amyloid A (AA) amyloidosis is more common in some European regions and ...

Pneumatosis intestinalis is a radiographic finding of gas pockets within the bowel wall. It can be associated with a range of diagnoses, but the most life-threatening causes are mesenteric ischemia, bowel necrosis, and bowel obstruction. Here we present the case of a patient with multiple myeloma who had pneumatosis intestinalis due to gastrointestinal amyloidosis, which is a rare manifestation...

Systemic amyloidosis is a rare clinical disorder and can lead to single organ or fatal multiple organ failure, heart and kidneys are the most affected organs. Currently, there are no relevant guidelines and recommendations about the treatment of systemic amyloidosis. Ischemic stroke is an uncommon complication of systemic amyloidosis and patients with systemic amyloidosis may carry a worse prog...

Amyloidosis is a rare disorder with a wide spectrum of presentations and anomalies. It is subdivided into 2 broad categories based on protein deposition; primary and secondary amyloidosis. It can present as a single-organ involvement or as a diffuse infiltrative multi-organ process. Isolated hepatic amyloidosis presentation is a rare phenomenon that develops due to insoluble amyloid deposition ...