K. Poesen MD, PhD

Myopathy as a rare presentation of AL amyloidosis

SUMMARY

Amyloid myopathy is a rare manifestation of amyloid light chain amyloidosis. We present a case of a 41-year old male with multiple myeloma with muscle hypertrophy, muscle weakness and enlargement of the submandibular glands as the only presenting clinical symptoms, illustrating the sheer difficulty of diagnosing amyloid light chain amyloidosis in patients with mainly soft tissue involvement. Even if there is a clinical suspicion, it is often hard to verify as Congo red stain and immunohistochemistry on muscle biopsy are not always reliable. After bortezomib-based induction treatment followed by autologous stem cell transplantation with high dose melphalan conditioning, he achieved complete haematological remission as well as a significant clinical response. We would like to highlight the importance of early diagnosis and treatment, as progression to more extensive visceral involvement can lead to rapid occurrence of organ failure and death.

(BELG J HEMATOL 2017;8(3):113–7)

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Kappa free light chains presenting as an unusual fraction on serum immunofixation electrophoresis

Summary

A 79-year old man presented at the emergency ward of our hospital with symptoms characteristic for multiple myeloma. Although serum capillary zone electrophoresis appeared normal, kappa free light chains were found in serum and in urine by immunofixation electrophoresis. The kappa free light chain fraction detected in the serum, albeit appeared as a polyclonal-like smear with an aberrant localisation in the alpha-2- and beta-regions. Subsequent high resolution gel electrophoresis of the serum suggested the presence of a monoclonal fraction in the alpha-2- and beta-regions, but quantification of the band by densitometry was still not possible. Quantification of free light chains in the patient’s serum by immunonephelometry indicated the presence of an excessive amount of kappa free light chains. However, overestimation of the amount of kappa free light chains by the immunonephelometric method was suspected because of discrepancy with the intensity of the fractions on serum and urine immunofixation electrophoresis.

(BELG J HEMATOL 2016;7(5):194–8)

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A case report of an atypical POEMS syndrome

summary

POEMS syndrome is a rare paraneoplastic syndrome that is defined by the presence of peripheral neuropathy, a monoclonal plasma cell disorder, and other paraneoplastic features, of which the most common include organomegaly, endocrinopathy and skin changes.¹ We report a case of POEMS syndrome in a 62-year old female who presented with worsening general condition, weight loss, asthenia and diarrhoea. Clinical examination showed the presence of ascites, peripheral oedema and a thickened skin with the presence of glomeruloid hemangioma. Further investigations showed the presence of three isolated FDG-avid bone laesions on PET-CT, a plasmacytoma with lambda restriction on bone marrow biopsy and elevated VEGF serum levels. The patient was treated with local radiotherapy with a total dose of 39 gray. Two months after radiotherapy, the patient already has a good clinical response with a reduction of ascites, fluid retention and diarrhoea, associated with a significant decline in the VEGF level.

After the case description, a review of the literature is presented.

(BELG J HEMATOL 2015;6(4): 156–61)

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