Recurrent diffuse gastric bleeding as a leading symptom of gastrointestinal AL amyloidosis

Abstract

Amyloidosis is a rare disease (incidence about 0.8/100 000) characterized by extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of serum proteins. Clinical manifestations are largely determined by the type of precursor protein, the tissue distribution and the amount of amyloid deposition. Gastrointestinal (GI) manifestations of amyloidosis are even more uncommon (3 % of all amyloidosis patients). Symptoms of GI amyloidosis are nonspecific, heterogeneous, and include weight loss, GI bleeding, heartburn, early satiety, diarrhea and abdominal pain. The histopathological examination of biopsy specimens from the GI tract leads to the diagnosis.

Herein we report the case of a 63-year-old woman with recurrent diffuse gastric bleeding. Endoscopic biopsies revealed distinct amyloid deposits in the mucosa of the stomach. Further histochemical assessment confirmed systemic light chain (AL) amyloidosis with clinically predominant gastrointestinal manifestation. An induction therapy with bortezomib and dexamethasone was initiated.

Our report illustrates the importance of the multidisciplinary approach for diagnosis and management of AL amyloidosis. Current treatment of systemic AL amyloidosis is based on cytostatic targeting of immunoglobulin producing plasma cells. Therapeutic options are limited and highly toxic, making the development of novel treatment approaches an urgent need.

Zusammenfassung

Die Amyloidose ist eine seltene Erkrankung (Inzidenz ca. 0,8/100 000), die durch Gewebsablagerungen verschiedener Serumproteine entstehen kann. Das klinische Bild wird durch die Art des Vorläuferproteins, die Gewebsverteilung und Menge der Eiweißablagerungen bestimmt. Die gastrointestinale Manifestation der Amyloidose ist noch seltener (3 % aller Amyloidosepatienten). Die Anzeichen eines gastrointestinalen Befalls, wie Gewichtsverlust, gastrointestinale Blutungszeichen, Sodbrennen, Völlegefühl, Diarrhoe und Bauchschmerzen sind unspezifisch. Nur eine Biopsie kann die Erkrankung sichern.

In der vorliegenden Arbeit berichten wir über den Fall einer 63 Jahre alten Patientin, bei der aufgrund von wiederkehrenden, diffusen Magenblutungen endoskopisch Gewebsproben entnommen wurden. Die histopathologische Untersuchung konnte ausgeprägte Amyloidablagerungen in der Schleimhaut des Gastrointestinaltrakts nachweisen. Die weitere Diagnostik sicherte eine systemische Leichtketten (AL-) Amyloidose mit klinisch prädominantem Befall des gesamten Gastrointestinaltraktes. Es wurde eine Induktionstherapie mit Bortezomib und Dexamethason eingeleitet.

Unser Fallbericht stellt die Bedeutung einer engen multidisziplinären Zusammenarbeit in der Amyloidosebehandlung dar. Die Behandlung der systemischen AL-Amyloidose basiert auf der zytostatischen Schädigung der Immunglobulin produzierenden Plasmazellen. Aufgrund der eingeschränkten, nebenwirkungsreichen Therapieoptionen sind neue Therapieansätze dringend notwendig.

Schlüsselwörter

AL-Amyloidose - gastrointestinale Amyloidose - gastrointestinale Blutung - monoklonale Gammopathie - Therapie

Key words

AL amyloidosis - gastrointestinal amyloidosis - gastrointestinal bleeding - monoclonal gammopathy - therapy

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