PMC5457930_01
The family pedigree relevant to the present case. The patient is indicated by a black square.
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Although the patient had not undergone a genetic evaluation, a family history analysis revealed that his mother had suffered from burning pain in her extremities; in addition, some maternal siblings had died of unexplained causes during childhood (Fig. 1).
A: The slit-lamp appearance of the right cornea 31 years previously; cornea verticillata is visible. B: Left, macroglossia with indentations caused by teeth. Right, multiple ulcers in the pyloric zone (black arrows).
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The patient had initially presented with anhidrosis and burning upper extremity pain in childhood, at which time a physical examination revealed angiokeratoma around the lower abdomen and cornea verticillata (Fig. 2A). However, he developed difficulty in speaking due to macroglossia (Fig. 2B), and reported epigastric discomfort and anorexia in June 2014. We performed an upper gastrointestinal endoscopy, which revealed multiple ulcers in the pyloric zone (Fig. 2B).
Representative images of the gastric mucosa in the patient. Magnification, x200. The amorphous homogeneous and acidophilic extracellular substance deposits that were visible in an Hematoxylin and Eosin staining specimen (upper left) were found to contain accumulated amyloid protein (black arrows). A DFS (upper right) confirmed the accumulation of amyloid in these deposits. Amyloid A staining was negative (lower left), whereas a amyloid P staining was positive (lower right), which confirmed a final diagnosis of amyloid light-chain amyloidosis. DFS: direct fast scarlet stain
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In addition, an immunohistochemical analysis revealed amyloid P, but not amyloid A, positivity, which was compatible with AL amyloidosis (Fig. 3).
Bone marrow aspiration revealed numerous plasma cells, which can be recognized by the presence of eccentric nuclei and perinuclear halos. Abnormal binucleate plasma cells were observed (arrow; May-Grunwald Giemsa staining; magnification, x600).
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After bone marrow aspiration and biopsy revealed a 23% increase in plasma cells and abnormal binucleate plasma cells (Fig. 4), we diagnosed the patient with AL amyloidosis due to MM.
A: An electrocardiogram showed increased QRS complex voltages and a giant negative T wave in the precordial leads. B: A two-dimensional echocardiogram analysis revealed severe left ventricular hypertrophy, but no "sparkling or speckled appearance".
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Electrocardiography showed increased QRS complex voltages and giant negative T waves, which are typical features of FD-related cardiomyopathy (Fig. 5A). A two-dimensional echocardiogram analysis revealed severe left ventricular hypertrophy (LVH) (Fig. 5B) and the preservation of the systolic function [ejection fraction (Teichholts MM): 70.8%].