Can you identify the disease?

Akhil Goel MD General Medicine, DM Rheumatology
Consultant Rheumatologist and Clinical Immunologist, Manipal Hospital, Jaipur

A 50-year-old man presented with paraesthesia and numbness involving both hands for one and a half years, inflammatory arthritis involving both small and large joints for one year and oral ulcers for 10 days. The patient had undergone left median nerve decompression surgery a year back and a surgery eight months back for lower lumbar compressive myeloradiculopathy. Investigations revealed severe anaemia of chronic disease with increased erythrocyte sedimentation rate and c-reactive protein. Hypergammaglobulinemia was present with normal serum calcium and creatinine. Rheumatoid factor, Anti-CCP, ANA and HLA-B27 were negative. Thyroid function test and blood sugars were normal. Urine examination revealed 2+ albumin with 24-hour urine protein of 2.9 gram. The oral cavity examination gave us the clue to the diagnosis.

What is the clinical and the radiological finding?

What is the clinical diagnosis?

Answer:

The clinical finding is suggestive of macroglossia and the plain radiograph of the shoulder is suggestive of wide increased joint space. Serum protein and immunofixation electrophoresis confirmed IgA kappa type of multiple myeloma. Bone marrow aspiration and biopsy revealed 40% plasma cells and was also positive for Congo red stain that confirmed amyloidosis. So, the final diagnosis was primary amyloidosis with multiple myeloma.

Further reading
1. Elsaman AM, Radwan AR, Akmatov MK, Della Beffa C, Walker A, Mayer CT et al. Amyloid arthropathy associated with multiple myeloma: a systematic analysis of 101 reported cases. Semin Arthritis Rheum. 2013 Dec;43(3):405-12.