Suspicion of the presence of amyloid can be generated in many ways. If e.g. someone belongs to a family with hereditary systemic amyloidosis even minimal signs and symptoms will induce strong suspicion of amyloidosis. If someone is known with a longstanding inflammatory disease such as rheumatoid arthritis, it is advisable to monitor creatinine levels in blood and the appearance of proteinuria in urine. Unexplained enlargement of tongue, liver, or spleen, severe proteinuria or loss of renal function, severe diarrhoea, or heart failure with thickened cardiac walls all can start suspicion of amyloidosis. Suspicion is strong in patients who have been dialysed for many years (minimal 5 and often 10-15 years) and who develop carpal tunnel syndrome or arthropathy of shoulders, hands, hips, or vertebral column.
Suspicion itself is not enough, the actual presence of amyloid should be proved beyond any doubt in a piece of tissue, a so-called tissue biopsy.
But in a considerable number of cases the message that amyloid has been detected in a biopsy by the pathologist is the first signal of amyloidosis. Because of the rarity of the disease (incidence of about 8 new cases per million inhabitants per year), the enormous variety of signs and symptoms at presentation, and the insidious way the disease manifests itself detection is often late in the course of the disease in a phase that one or more vital organs has already been damaged seriously.
After detection of amyloid in a tissue biopsy further evaluation is needed by precise knowledge of the type of amyloid and assessment of severity and extension of the amyloidosis in the body. Important is the finding of amyloid deposition only localised is or systemic throughout the body. And also which organs and tissues have been involved in this amyloid deposition and whether this has lead to damage of the organ involved. This clinical evaluation helps the physician to get a picture of the severity and extension of the disease and a global estimation can be made of the prognosis of the patient. Knowledge of this situation is the basis of further thinking about possibilities of therapy and, if present, to choose the most appropriate therapy.
Hazenberg BPC, van Gameren II, Bijzet J, Jager PL, van Rijswijk MH. Diagnostic and therapeutic approach of systemic amyloidosis. Neth J Med 2004; 62: 121-8 > pdf >
Witteman EM, Janssen HL, Hazenberg BP, Janssen S. Amyloidosis; pathogenese en therapie. [Amyloidosis; pathogenesis and therapy]. Ned Tijdschr Geneeskd 1992; 136(47):2318-22 > pdf >