Loss of Taste, Rash, and Dyspnea in a 46-Year-Old With GERD

Unnikrishnan Pillai, MD; Jameel Muzaffar, MD; Santosh G. John, MD; Pascale Salem, MD; Philip B. Vaidyan, MD

Disclosures

August 10, 2022

Discussion

The clinical findings of multiple ecchymotic lesions, enlarged tongue, features of congestive heart failure, low-voltage complexes on ECG, and an echocardiographic pattern showing a "ground-glass" appearance in the myocardium were consistent with cardiac amyloidosis.

Other echocardiographic findings in this patient included a left ventricle with mildly reduced systolic function (ejection fraction of 45%; normal range, 55%-70%); a moderately dilated left atrium, at 5.5 cm; moderately increased ventricular wall thickness, with an interventricular septal thickness of 2 cm (normal range, 0.7-1.1 cm) and a similarly increased thickness in the posterior wall; moderate diastolic dysfunction; and a small pericardial effusion. An abdominal fat pad biopsy to confirm amyloidosis was negative; however, biopsy of the swollen tongue showed homogenous extracellular fibrils positive for Congo red staining and positive for green birefringence (Figures 4 and 5). This result was diagnostic of systemic amyloidosis.

Figure 4.

Figure 5.

Serum protein electrophoresis was negative for monoclonal bands, but immunofixation electrophoresis revealed evidence of a monoclonal population of lambda light chains. A serum free light chain (FLC) assay revealed an elevated lambda free light chain level of 270 mg/L (reference range, 5.7-26.3 mg/L) and a kappa-to-lambda ratio of 0.03 (reference range, 0.26-1.65). Bone marrow aspiration and biopsy revealed hypocellular marrow, with trilineage maturation and mature plasma cells. Congo red staining demonstrated microfocal green birefringence within the vessel walls. Flow cytometry of the bone marrow revealed plasma cell dyscrasia of the monoclonal lambda type. A skeletal survey revealed no lytic lesions. On the basis of the above information, systemic amyloidosis was diagnosed.

A characteristic feature of amyloidosis is the extracellular deposition of pathogenic insoluble fibrillar proteins.[1] The age-adjusted incidence of amyloidosis is estimated to be 5-12 cases per 1 million persons per year.[2] The causative protein is an immunoglobulin light chain or a fragment of light chain produced by monoclonal proliferation of plasma cells.[3,4] Amyloidosis is a plasma cell dyscrasia that has a low plasma cell burden of only 5%-10% in the bone marrow. This is in contrast to multiple myeloma, which has 10%-15% plasma cells that express a lambda-type light chain.

The clinical features of amyloidosis depend on the organs involved. The three most common internal organs affected are the kidneys, the heart, and the peripheral nerves. Amyloid cardiomyopathy is the second most common presentation. It can lead to rapidly progressive heart failure, with predominant features of right-sided heart failure. Increased ventricular wall thickness resulting from amyloid deposition leads to diastolic dysfunction. Systolic dysfunction is a late feature caused by myocyte necrosis and local interstitial fibrosis. Atrial arrhythmias (in particular, atrial fibrillation) are common in patients with cardiac amyloidosis.

Many patients with amyloidosis report easy bruising, resulting from amyloid deposits in the capillaries and deficiency of clotting factor X. Cutaneous ecchymoses may also develop. The lesions seen on this patient's abdomen may have been caused by the above-mentioned factors.

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