Amyloidosis

Amyloidosis is a rare disorder in which insoluble amyloid proteins are deposited in body organs, causing abnormal protein build-up in tissues and eventually leading to organ dysfunction and death. It affects less than 200,000 people in the United States, classifying it as a rare disease according to the National Institutes of Health. Definitive determination of the underlying protein is critical since prognosis and treatment of amyloidosis can vary widely depending on the responsible protein. The following paper describes the various types and clinical features of amyloidosis and provides an overview of current diagnostic tools and therapies.

Nous rapportons l’observation d’un homme de 68 ans qui avait consulté pour dyspnée et hémoptysie. La fibroscopie bronchique avait montré une formation bourgeonnante au niveau du versant postérieur de la carène. Des biopsies bronchiques étagées étaient réalisées et avaient conclu à une amylose de type AL. L’amylose trachéobronchique localisée est une affection très rare, pouvant simuler une tumeur bronchique surtout lorsqu’elle survient chez un sujet de sexe masculin et tabagique.The authors report the case of a 68-year-old man complaining of haemoptysis and breathlessness. Bronchoscopy revealed a budding formation in tracheal bifurcation. Multiple biopsies were performed and concluded as to AL type amyloidosis. Tracheobronchial amyloidosis is an uncommon localised form of amyloidosis that can simulate lung cancer.

Amyloidosis of the ear is rare. We describe the case of a 41-year-old man who had localized amyloidosis that involved the external auditory canal and middle ear. To the best of our knowledge, only 4 other cases of amyloidosis involving the external auditory canal have been previously reported; in none of these cases was the middle ear involved. We also discuss the clinical importance of this condition and its treatment.

Gastrointestinal amyloidosis may occur as part of the systemic manifestations of primary amyloidosis or in a localized form. The symptoms and signs that may occur are numerous and nonspecific, hampering clinical suspicion when this disease has not already been diagnosed. Gastric ulcers presenting as massive bleeding are an uncommon manifestation of this disease. We report the case of a patient with primary amyloidosis who developed massive gastrointestinal bleeding complicated by an amyloid gastric ulcer. Emergency surgery was required to control the bleeding.

We studied the results of renal transplantation in 16 patients with renal amyloidosis and in 46 controls with primary glomerulonephritis. Amyloidosis was primary in five and secondary to familial Mediterranean fever (FMF) in 11. All patients received live related donor kidneys and the majority had one-haplotype HLA match. One- and 5-year graft and patient survival rates were comparable in both groups. Moreover, the frequency of acute rejection episodes and the mean serum creatinine values were not significantly different between members of the two groups. Significant gastrointestinal symptoms in the form of nausea, vomiting, abdominal pains, and diarrhoea occurred in seven of the patients with amyloidosis (43.7%) and in only one of the controls (2%) (P = 0.001). All seven recipients with amyloidosis who developed the gastrointestinal manifestations were receiving cyclosporin and six had FMF. Maintenance colchicine treatment prevented recurrence of FMF symptoms. In one patient discon...