Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma

0440682 - MBÚ 2015 RIV GB eng J - Journal Article
Hůlková, H. - Vlášková, H. - Elleder, M. - Svojanovský, J. - Ševela, K. - Krusová, D. - Hanuš, J. - Souček, M. - Vězda, P. - Márová, I. - Feit, J. - Zambo, I. - Kovačevicova, M. - Kostrouchová, V. - Kostrouch, Z. - Novák, Petr
Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma.
Amyloid-Journal of Protein Folding Disorders. Roč. 21, č. 5 (2014), s. 57-61. ISSN 1350-6129. E-ISSN 1744-2818
R&D Projects: GA MŠMT ED1.1.00/02.0109; GA MŠMT(CZ) EE2.3.20.0055; GA MŠMT LO1211; GA MŠMT EE2.3.30.0003
Grant - others:Masaryk University, Brno(CZ) MUNI/A/1012/2009; GA MŠk(CZ) Prvouk-P27/LF1/1; Karlova Universita(CZ) UNCE 20422; Universita Karlova(CZ) UNCE 204011; Universita Karlova(CZ) PRVOUK-P24/LF1/3
Institutional support: RVO:61388971
Keywords : alzheimer * gene * amyloidosis
Subject RIV: EC - Immunology
Impact factor: 2.010, year: 2014

We present a case study of an elderly woman with systemic lambda-type AL amyloidosis that featured unusually extensive cutaneous involvement. The case initially presented with a sudden hyper beta-carotenemia with carotenoderma that instigated the clinical examination including skin biopsy. A diagnosis of systemic amyloidosis was made. Immunohistochemistry and Western-blot analysis indicated the presence of lambda light chain proteins in skin amyloid deposits. However, notable co-deposition of wild-type apoA-I and transthyretin was observed which caused initial diagnostic confusion. Proteomic analysis of microdissected skin amyloid deposits by mass spectrometry confirmed lambda light chain proteins in amyloid deposits and co-deposition of apolipoprotein A-IV and serum amyloid P-component. The patient died from renal failure caused by amyloid nephropathy combined with analgesic nephropathy. The autopsy disclosed vascular, cardiac, renal and pulmonary amyloid deposition. While all amyloid deposits were positive for lambda light chain proteins, the immunodetection of apoA-I and transthyretin varied significantly among the visceral amyloid deposits. Although the patient exhibited a 1000-fold increase in serum beta-carotene levels, only a mild increase in retinol and lutein concentrations was observed. Increased beta-carotene values were also found in the liver and the skin. The mechanisms underlying this hyper beta-carotenemia remain undetermined.
Permanent Link: http://hdl.handle.net/11104/0243783