Clinical approach of patients with systemic amyloidosis

Amyloidosis is the name of diseases characterised by deposition of protein fibrils with a beta-sheet structure. This beta-sheet structure generates affinity of amyloid for Congo red dye and is resistant to proteolysis. The main three types of systemic amyloidosis are AA (related to underlying chronic inflammation), AL (related to underlying monoclonal light chain production), and ATTR amyloidosis (related to old age or underlying hereditary mutations of transthyretin). Signs and symptoms vary among the three types and the treatment is different for each type. If a patient is suspected to have systemic amyloidosis, proof of the presence of amyloid in tissue must be obtained first and systemic involvement should be unequivocal. Determination of the precise type of amyloid is extremely important and one should start to detect the particular amyloid precursor. Assessment of size and function of vital organs and tissues is essential in the clinical work-up of a patient with systemic amyloidosis. A fast and thorough clinical evaluation is necessary to obtain all relevant information for prognosis and choice of treatment. The treatment is based on the “precursor-product” concept, in which the supply of amyloid precursor is the rate limiting step for further accumulation of amyloid. Effective therapy quickly and completely stops ongoing supply of precursor. In this respect, investigations such as serum amyloid P component (SAP) scintigraphy may help not only to investigate organ involvement but also response to treatment. The effects of therapy on both underlying disease and amyloidosis should be monitored frequently during follow-up

Gastrointestinale serumeiwituitscheiding : een onderzoek over de uitbreiding van serumeiwitten in het maagdarmkanaal, inzonderheid bij patienten met een proteïnurie, en de produktie van immuunglobulinen in de jejunumwand.

In this thesis an investigation on certain aspects of the excretion of serum proteins in the gastrointestinal tract is reported.....

Long-term follow-up after surgery in localized laryngeal amyloidosis

To study effectiveness of surgery and watchful waiting in localized laryngeal amyloidosis, retrospective case series. This retrospective study comprises all consecutive patients with localized laryngeal amyloidosis surgically treated in a tertiary hospital between 1994 and February 2016. Recurrence rate, revision surgery, progression to systemic amyloidosis, and changes in voice were monitored yearly. Eighteen patients were included. Seven women and eleven men had a median age 50 years (range 21-77 years) and median follow-up 6.4 years (2.4-17 years). Amyloid was located in subglottis (5), glottis (8), false vocal folds (8) and other supraglottic areas (5), in more than one laryngeal region (13) and bilaterally (12). Cold steel excision was used at the glottis; CO2 laser excision, sometimes assisted by microdebrider, at other laryngeal areas. Eleven patients needed revision surgery, ten within the first 4 years after surgical treatment. One patient needed his first revision surgery after 11 years. Five patients needed a second revision within 6 years after initial diagnosis. Two patients needed a third revision. Indications for first revision surgery were progression (8) with dysphonia (7), dyspnea (2), dysphagia (1), exclusion of malignancy (1), and aphonia (1). No patient developed systemic amyloidosis during follow-up. Although local progression of amyloid necessitates revision surgery once or twice in the first 4-6 years, progression slows down thereafter. Late progression, however, remains possibl

Whole body amyloid deposition imaging by 123I-SAP scintigraphy

Amyloidosis is the name of a group of diseases characterized by extracellular deposition of amyloid fibrils. Deposition of amyloid can be localized or systemic. The 123I-SAP-scan can be used to image extent and distribution of amyloid deposition in patients with systemic AA, AL and ATTR amyloidosis. Images are assessed in a semi-quantitative way by comparing each organ directly or indirectly to the normal blood-pool distribution. Considerable variation is observed between the findings on 123I-SAP-scan and clinical manifestations of organ disease. Regardless, the 123I-SAP-scan still provides both an impression of specific organ involvement as well as a global view of the amyloid load of the whole body. Due to physiological uptake of iodine degradation products in the stomach or to overwhelming uptake in an enlarged liver or enlarged spleen, visualization of abdominal organs nearby is not always easy and sometimes even impossible. In these cases SPECT (/CT) provides additional anatomical information to enable a more reliable assessment of such an organ