Bilateral periorbital ecchymoses

Summary

Immunoglobulin light chain (AL) amyloidosis is a systemic disease caused by a plasma cell clone synthesizing an unstable light chain, which forms amyloid fibrils. Deposition of amyloid fibrils affects primarily kidney, heart, nervous system, spleen, liver, gastrointestinal tract and the skin. Skin bleeding in these patients is called amyloid purpura. Classically, it occurs spontaneously and bilaterally in the periorbital region. Vessel wall fragility and damage by amyloid are the principal causes of periorbital and gastrointestinal bleeding. Additionally, coagulation factor inhibitory circulating paraprotein, hyperfibrinolysis, platelet dysfunction or isolated acquired factor X deficiency may contribute to even more severe, diffuse bleedings.

Early diagnosis remains essential for improvsis. Although pictures of amyloid purpura have been often reported in the literature, the clinical diagnosis may be delayed. We report a case of cutaneous manifestation of AL amyloi-dosis diagnosed not until one year after the appearance of the first symptoms. Diagnostic work-up revealed that the patient suffered from multiple myeloma with secondary AL amyloidosis. Atraumatic ecchymoses at the face, particularly the eyelids as well as in the neck should raise the suspicion of AL amyloi-dosis.

Zusammenfassung

Die Immunglobulin-Leichtketten- (AL-)Amyloi-dose ist eine systemische Krankheit infolge Ablagerung pathologischer Amyloidfibrillen. Ein Plasmazell-Klon produziert und sezerniert monoklonale, instabile Leichtketten, die als Fibrillen in diversen Organen abgelagert werden. Vorzugsweise sind Nieren, Herz, Ner-vensystem, Milz, Leber, Gastrointestinaltrakt und Haut betroffen. Ein Hautbefall äußert sich in Form spontan auftretender, typischer-weise beidseits periorbital lokalisierter, sub-kutaner Blutungen. Diese Amyloidpurpura sowie gastro intestinale Blutungen sind be-dingt durch die Fragilität der Gefäße infolge der Amyloidablagerung. Gerinnungs -faktoren - inhibierendes Paraprotein, Hyper -fibrinolyse, Thrombozytendysfunktion oder akquirierter isolierter Faktor-X-Mangel kön-nen zu einer schweren, diffusen Blutungs -neigung beitragen.

Frühdiagnose und -therapie sind für die Prog-nose der AL-Amyloidose essenziell. Wir berichten über einen Patienten mit kutaner Manifestation einer AL-Amyloidose, bei dem die klinische Diagnose erst ein Jahr nach Auf-treten erster Symptome und Konsultation mehrerer Spezialisten gestellt wurde. Die weitere Abklärung ergab ein multiples Myelom mit sekundärer AL-Amyloidose. Atraumatische Ekchymosen im Gesicht, v. a. im Bereich der Lider, periorbital und im Nacken , sollten den dringenden Verdacht auf AL-Amyloidose wecken und unverzüglich zur Abklärung führen.

Keywords

Immunoglobulin light chain amyloidosis - multiple myeloma - amyloid purpura - raccoon eyes

Schlüsselwörter

Immunglobulin-Leichtketten-Amyloidose - Multiples Myelom - Amyloidpurpura - Raccoon -- Augen

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