Myopathy and mixed hyperlipoproteinemia as the first symptom of systemic AL-amyloidosis

Česká verzia

Authors: M. Tošovský ¹; T. Soukup ¹; P. Bradna ¹; V. Maisnar ¹; V. Tyčová ²; J. Tomš ¹; M. Prixová ¹
Authors place of work: II. interní klinika Lékařské fakulty UK a FN Hradec Králové, přednosta prof. MUDr. Jaroslav Malý, CSc. ¹; Fingerlandův ústav patologie Lékařské fakulty UK a FN Hradec Králové, přednosta prof. MUDr. Aleš Ryška, Ph. D. ²
Published in the journal: Vnitř Lék 2008; 54(10): 1014-1019
Category: Case Report

Summary

Systemic AL-amyloidosis is a disorder brought about by the over-production and deposition of fragments of light immunoglobulin chains in tissues, the consequence of which is their functional impairment. The most often affected are the kidneys, the heart, the gastro-intestinal tract and the nervous system. We describe the case of a 57-year old patient in whom a rare disorder of the striated muscle (am yloid myopathy) was present, as the first clinical indication of systemic AL-amyloidosis. The main symptoms were muscle weakness and an increase in laboratory signs of muscle lesion. The patient was monitored for several years and treated with a diagnosis of primary idiopathic polymyositis (the likely diagnosis according to the diagnostic criteria of Bohan and Peter). Only after some years did hepatomegaly appear with elevated liver transaminases and a diagnosis of systemic AL-amyloidosis was established on the basis of a liver biopsy. By additional staining of striated muscle preparations with a dye for amyloid (in accordance with Maldyk) amyloid myopathy was confirmed. In addition to muscle affection, mixed hyperlipoproteinemia was present from the beginning. This was probably the first indication of amyloidosis. The case description points out the justified inclusion of systemic AL-amyloidosis in differential diagnosis of muscle weakness and signs of muscle lesion. Amyloidosis must be considered if in addition to myopathy there is also present a problem with any organ which can typically be affected by amyloidosis.

Key words:
Systemic AL-amyloidosis – myopathy – primary idiopathic polymyositis – mixed hyperlipoproteinemia – autologous peripheral stem cell transplantation

Zdroje

1. Falk RH, Comenzo RL, Skinner M. The systemic amyloidoses. N Engl J Med 1997; 337: 898–909.

2. Gertz MA, Lacy MO, Dispenzieri A et al. Amyloidosis. Best Pract Res Clin Haematol 2005; 18: 709–727.

3. Adam Z, Ščudla V. Clinical manifestation of AL‑amyloidosis and some other type of amyloidosis. Vnitř Lék 2001; 47: 36–45.

4. Kyle RA, Linos A, Beard CM et al. Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989. Blood 1992; 79: 1817–1822.

5. Tichý M, Maisnar V. Laboratorní průkaz monoklonálních imunoglobulinů. Vnitř Lék 2006; 52 (Suppl 2): 41–45.

6. Kyle RA, Greipp PR. Amyloidosis (AL). Clinical and laboratory features in 229 cases. Mayo Clin Proc 1983; 58: 665–683.

7. Sanders PW, Herrera GA, Kirk KA et al. Spectrum of glomerular and tubulointerstitial renal lesions associated with monotypical immunoglobulin light chain deposition. Lab Invest 1991; 64: 527–537.

8. Roke ME, Brow WFE, Boughner D. Myo-pathy in primary systemic amyloidosis. Can J Neurol Sci 1988; 15: 314–316.

9. Karacostas D, Soumpourou M, Mavromatis I et al. Isolated myopathy as the initial manifestation of primary systemic amyloidosis. J Neurol 2005; 252: 853–854.

10. Chapin JE, Kornfeld M, Harris A. Amyloid myopathy: characteristic features of a still underdiagnosed disease. Muscle Nerve 2005; 31: 266–272.

11. Roke ME, Brown WF, Bouhner D et al. Myopathy in primary systemic amyloidosis. Can J Neurol Sci 1988; 15: 314–316.

12. Vaish AK, Mehrotra S, Kushwaha MR. Proximal muscle weakness due to amyloid deposition. J Neurol Neurosurg Psychiatry 1998; 64: 409–410.

13. Smestad C, Monstad P, Lindboe CF et al. Amyloid myopathy presenting with distal atrophic weakness. Muscle Nerve 2004; 29: 605–609.

14. Scola RH, Werneck LC, Ramos CS et al. Amyloiditic muscle pseudohypertrophy: case report. Arq Neuropsiquiatr 2001; 59: 582–586.

15. Li K, Hizawa K, Numomura S et al. Systemic amyloid myopathy: light-microscopic and fine structural study of the skeletal muscles with histochemical and immunohistochemical study of amyloid. Acta Neuropathol (Berl) 1984; 64: 114–121.

16. Yoshita M, Ishida C, Yanase D et al. Immunoglobulin light-chain (AL) amyloidosis with myasthenic symptoms and echocardiographic features of dilated cardiomyopathy. Intern Med 2006; 45: 159–162.

17. Mandl LA, Folkerth RD, Pick MA et al. Amyloid myopathy masquerading as polymyositis. J Rheumatol 2000; 27: 949–952.

18. Majolino I, Marcenò R, Pecoraro G. High‑dose therapy and autologous transplantation in amyloidosis – AL. Haematologica 1993; 78: 68–71.

19. Merlini G. Treatment of primary amyloidosis. Semin Hematol 1995; 32: 60–79.

20. Hull KM, Griffith L, Kuncl RW et al. A deceptive case of amyloid myopathy: clinical and magnetic resonance imaging features. Arthritis Rheum 2001; 44: 1954–1961.

21. Couture P, Le Blanc F, Gagnon P et al. Hyperlipidemia as the first biochemical manifestation of primary amyloidosis. Am J Gastroenterol 1997; 92: 1046–1047.

22. Levy Y, Magill PJ, Miller NE et al. Primary systemic amyloidosis presenting as extreme hyperlipidaemia with tendon xanthomas. Br Med J (Clin Res Ed) 1981; 283: 699–700.

23. Buxbaum JN, Tagoe CE. The genetics of the amyloidoses. Annu Rev Med 2000; 51: 543–569.

24. Serpell LC, Sunde M, Benson MD et al. The protofilament substructure of amyloid fibrils. J Mol Biol 2000; 300: 1033–1039.

25. Comenzo RL, Gertz MA. Autologous stem cell transplantation for primary systemic amyloidosis. Blood 2002; 99: 4276–482.

26. Gertz MA, Lacy MO, Gastineau DA et al. Blood stem cell transplantation as therapy for primary systemic amyloidosis (AL). Bone Marrow Transplant 2000; 26: 963–969.

27. Adam Z, Ščudla V, Tomiska M. Treatment of AL‑amyloidosis and some other types of amyloidosis. Vnitř Lék 2001; 47: 46–52.

28. Gillmore JD, Davies J, Iqbal A et al. Allogeneic bone marrow transplantation for systemic AL amyloidosis. Br J Haematol 1998; 100: 226–228.

29. Miller ML. Approach to the patient with muscle weakness. UpToDate 16.1. [online]. 2008 [cit. 2008–06–24]. http://www.utdol.com/online/content/topic.do?topicKey =muscle/ 2406&selectedTitle=1~150&source=search_result.