History
A 68-year-old woman presents with a 3-week history of worsening back pain. She has been feeling tired for three months and is also complaining of gradu-ally progressive tongue ‘thickening’. She is otherwise well and has not attended her GP for more than five years. She is on no medication.
Examination
She is pale and has marked tenderness on palpation of specific areas over her lumbar spine. She has an enlarged tongue, with a smooth papulo-nodular pink infiltrate disrupting the papillae (Fig. 98.1). There is similar involvement of the mucosal aspect of the upper lip extending onto the vermillion lip. Examination of her cardiorespiratory and abdominal systems is normal. She has no palpable lymphadenopathy.
Questions
• What is the likely unifying diagnosis?
• What is occurring in the patient’s mouth?
Medicine
The likely unifying diagnosis in an elderly patient presenting with back pain, anaemia, elevated ESR and an infiltrative process involving the tongue and proteinuria is multiple myeloma, a disease characterized by malignant proliferation of plasma cells and con-sequent abundance of a monoclonal paraprotein. The presentation of myeloma can be highly variable. The diagnosis can be confirmed by demonstration of a plasma cell clone within the bone marrow and a paraprotein within blood and/or urine. Hypercalcaemia is a common complication. The infiltration of her tongue and mucosal lip is due to the deposition of light-chain amyloid (AL). Amyloid is defined as in-vivo deposited material distinguished by fibrillar electron micrographic appearance. All types of amyloid consist of a major fibrillar protein that defines the type of amyloid, which can be classified as systemic, hereditary, local-ized, or organ specific. Cutaneous involvement can occur as an isolated phenomenon or as a manifestation of systemic disease. Mucocutaneous lesions are common in systemic AL and include waxy nodules and plaques, ecchymoses, pinch purpuras, sclerodermoid skin changes and haemorrhagic bullae. Careful examination and investigation for other systemic amyloid involvement is required. Typical extracutaneous sites include heart, kidney, peripheral nerve, gastroin-testinal tract, and respiratory tract. Although patients with both myeloma and systemic amyloidosis associated with other diseases can benefit in terms of symptom control from treatment, there is currently no cure for either condition.
KEY POINTS
• Multiple myeloma can have a highly variable presentation and potential complications include deposition of light-chain systemic amyloid.
• AL amyloidosis can have a variable presentation, but should prompt investigation particularly for an underlying plasma cell dyscrasia.
• There is no curative treatment for AL amyloidosis.
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