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Hamostaseologie 2014; 34(03): 249-252
DOI: 10.5482/HAMO-14-03-0018
Case report
Schattauer GmbH

Bilateral periorbital ecchymoses

An often missed sign of amyloid purpuraBilaterale periorbitale EkchymosenEin häufig verpasstes Zeichen der Amyloid-purpura
G. Colucci
1   Department of Haematology and Central Haematology Laboratory, Inselspital, University Hospital and University of Bern, Switzerland
,
L. Alberio
1   Department of Haematology and Central Haematology Laboratory, Inselspital, University Hospital and University of Bern, Switzerland
2   Service of Haematology and Central Haematology Laboratory, CHUV, University Hospital of Lausanne, Switzerland
,
F. Demarmels Biasiutti
1   Department of Haematology and Central Haematology Laboratory, Inselspital, University Hospital and University of Bern, Switzerland
,
B. Lämmle
1   Department of Haematology and Central Haematology Laboratory, Inselspital, University Hospital and University of Bern, Switzerland
3   Center for Thrombosis and Haemostasis, University Medical Center, Mainz, Germany
› Author Affiliations
Further Information

Publication History

received: 09 March 2014

accepted in revised form: 18 June 2014

Publication Date:
28 December 2017 (online)

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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
 

  • References

  • 1 Palladini G, Merlini G. Systemic amyloidoses: what an internist should know. Eur J Intern Med 2013; 24: 729-739.
    CrossrefPubMedGoogle Scholar
  • 2 Merlini G. et al. Immunoglobulin light chain amyloidosis. Exp Rev Hematol 2014; 07: 143-156.
    CrossrefPubMedGoogle Scholar
  • 3 Matsuda M, Katoh N, Ikeda S. Clinical manifestations at diagnosis in Japanese patients with systemic AL amyloidosis: a retrospective study of 202 cases with a special attention to uncommon symptoms. Intern Med 2014; 53: 403-412.
    CrossrefPubMedGoogle Scholar
  • 4 Merlini G, Wechalekar AD, Palladini G. Systemic light chain amyloidosis: an update for treating physicians. Blood 2013; 121: 5124-5130.
    CrossrefPubMedGoogle Scholar
  • 5 Gillmore JD, Hawkins PN. Pathophysiology and treatment of systemic amyloidosis. Nat Rev Nephrol 2013; 09: 574-586.
    CrossrefPubMedGoogle Scholar
  • 6 Passos HRda. et al. Clinical image: bilateral black eyes (raccoon’s eyes) in AL amyloidosis. Arthritis Rheum 2006; 54: 3724.
    CrossrefPubMedGoogle Scholar
  • 7 Eder L, Bitterman H. Image in clinical medicine. Amyloid purpura. N Engl J Med 2007; 356: 2406.
    CrossrefPubMedGoogle Scholar
  • 8 Weingarten TN. et al. Periorbital ecchymoses during general anesthesia in a patient with primary amyloidosis: a harbinger for bleeding?. Anesth Analg 2007; 105: 1561-1563.
    CrossrefPubMedGoogle Scholar
  • 9 Aissi K. et al. Facial signs leading to the diagnosis of cardiac amyloidosis. Am J Med 2009; 122: e1-e2.
    CrossrefPubMedGoogle Scholar
  • 10 Green WH, Schosser RH. Images in clinical medicine. Dermatologic signs of multiple myeloma. N Engl J Med 2011; 365: 71.
    CrossrefPubMedGoogle Scholar
  • 11 Nicholson JA, Tappin J. Raccoon eyes in systemic AL amyloidosis. Br J Haematol 2011; 153: 543.
    CrossrefPubMedGoogle Scholar
  • 12 De Moura CG, Cruz CM, de Souza SP. Raccoon sign. Arthritis Rheum 2013; 65: 692.
    CrossrefPubMedGoogle Scholar
  • 13 Prystajecky M, Rehman HU. Medical image. Raccoon eyes in amyloidosis. N Z Med J 2013; 126: 102-103.
    PubMedGoogle Scholar
  • 14 Falk RH. Diagnosis and management of the cardiac amyloidoses. Circulation 2005; 112: 2047-2060.
    CrossrefPubMedGoogle Scholar
  • 15 Kastritis E. et al. Treatment of light chain (AL) amyloidosis with the combination of bortezomib and dexamethasone. Haematologica 2007; 92: 1351-1358.
    CrossrefPubMedGoogle Scholar
  • 16 Jagannath S. et al. Bortezomib therapy alone and in combination with dexamethasone for previously untreated symptomatic multiple myeloma. Br J Haematol 2005; 129: 776-783.
    CrossrefPubMedGoogle Scholar
  • 17 Stewart AK, Richardson PG, San-Miguel JF. How I treat multiple myeloma in younger patients. Blood 2009; 114: 5436-5443.
    CrossrefPubMedGoogle Scholar
  • 18 Somasundaram A, Laxton AW, Perrin RG. The clinical features of periorbital ecchymosis in a series of trauma patients. Injury 2014; 45: 203-205.
    CrossrefPubMedGoogle Scholar
  • 19 Watanabe K, Kida W. Images in clinical medicine. Battle’s sign. N Engl J Med 2012; 367: 1135.
    CrossrefPubMedGoogle Scholar
  • 20 Sipe JD. et al. Amyloid fibril protein nomenclature: 2012 recommendations from the Nomenclature Committee of the International Society of Amyloidosis. Amyloid 2012; 19: 167-170.
    CrossrefPubMedGoogle Scholar
  • 21 Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med 2003; 349: 583-596.
    CrossrefPubMedGoogle Scholar
  • 22 Yood RA. et al. Bleeding manifestations in 100 patients with amyloidosis. JAMA 1983; 249: 1322-1324.
    CrossrefPubMedGoogle Scholar
  • 23 Mumford AD. et al. Bleeding symptoms and coagulation abnormalities in 337 patients with ALamyloidosis. Br J Haematol 2000; 110: 454-460.
    CrossrefPubMedGoogle Scholar
  • 24 Eby C. Pathogenesis and management of bleeding and thrombosis in plasma cell dyscrasias. Br J Haematol 2009; 145: 151-163.
    CrossrefPubMedGoogle Scholar
  • 25 Gamba G. et al. Clotting alterations in primary systemic amyloidosis. Haematologica 2000; 85: 289-292.
    PubMedGoogle Scholar
  • 26 Meyer K, Williams EC. Fibrinolysis and acquired alpha-2 plasmin inhibitor deficiency in amyloidosis. Am J Med 1985; 79: 394-396.
    CrossrefPubMedGoogle Scholar
  • 27 Colucci G. et al. Effective therapy with tranexamic acid in a case of chronic disseminated intravascular coagulation with acquired alpha2-antiplasmin deficiency associated with AL amyloidosis. Thromb Haemost 2009; 102: 1285-1287.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 28 Lucas FV. et al. Acquired factor X deficiency in systemic amyloidosis. Cleve Clin J Med 1987; 54: 399-406.
    CrossrefPubMedGoogle Scholar
  • 29 Bohler A, Lämmle B. Decreased Quick percentage, acquired factor X deficiency, hemarthrosis and ecchymosis: amyloidosis. Ther Umsch 1999; 56: 523-525.
    CrossrefPubMedGoogle Scholar
  • 30 Thompson CA. et al. Systemic AL amyloidosis with acquired factor X deficiency: A study of perioperative bleeding risk and treatment outcomes in 60 patients. Am J Hematol 2010; 85: 171-173.
    PubMedGoogle Scholar
  • 31 Leung N, Nasr SH, Sethi S. How I treat amyloidosis: the importance of accurate diagnosis and amyloid typing. Blood 2012; 120: 3206-3213.
    CrossrefPubMedGoogle Scholar
  • 32 Mahmood S. et al. Update on treatment of light chain amyloidosis. Haematologica 2014; 99: 209-221.
    CrossrefPubMedGoogle Scholar