J Hematol

Journal of Hematology, ISSN 1927-1212 print, 1927-1220 online, Open Access

Article copyright, the authors; Journal compilation copyright, J Hematol and Elmer Press Inc

Journal website https://jh.elmerpub.com

Case Report

Volume 14, Number 3, June 2025, pages 152-157

Amyloid Light Chain Amyloidosis Masquerading as Scleroderma: A Diagnostic Challenge

↓ Figure 1. Hematoxylin and eosin stain on the patient’s bone marrow biopsy showing amorphous eosinophilic deposits (black arrow).

↓ Figure 2. Native heart endomyocardial biopsy showing mild intramyocardial arterial mural involvement, staining positive for Congo red stain under normal light (left; red staining, black arrow) and polarized light (right; apple-green birefringence, white arrow).

↓ **Table 1.** Symptoms Observed in Different Organs and Organ Systems for Amyloidosis Compared to Scleroderma
	Amyloidosis	Scleroderma
ANCA: anti-neutrophil cytoplasmic antibody; GERD: gastroesophageal reflux disease; GI: gastrointestinal.
Kidney	Nephrotic proteinuria, especially albuminuria	Scleroderma renal crisis, proteinuria and microalbuminuria, ANCA-associated glomerulonephritis [14]
Heart	Congestive heart failure. Coronary involvement with angina, palpitations, syncope, atrial fibrillation being the most common arrhythmia [15]	Heart failure, coronary vasospasm, cardiomyopathy, ventricular arrhythmias, pericarditis and pericardial effusion [16]
Liver	Hepatomegaly in the absence of cardiac involvement (> 15 cm)	Primary biliary cirrhosis
Nervous system	Paresthesia Autonomic nervous system (orthostatic hypotension, diarrhea, constipation, vomiting, erectile dysfunction)	Sensory-motor peripheral neuropathy, autonomic neuropathy (altered vascular tone, altered gastrointestinal motility, cardiac rhythm irregularities, impotence)
Gastrointestinal system	Abdominal pain, change of bowel habits, altered gut motility, spontaneous bowel perforation, and GI bleeding [17]	Dysphagia, choking, GERD, gastroparesis, bloating, alternating constipation and diarrhea, colonic and small intestinal pseudo-obstruction, small intestinal bacterial overgrowth [18]
Lung	Tracheobronchial involvement most common: wheeze, stridor, cough, and recurrent pneumonia [19]	Interstitial lung disease, pulmonary hypertension, alveolar hemorrhage, pleural involvement [18]
Connective tissue	Macroglossia, carpal tunnel syndrome, and periorbital purpura [20]	Carpal tunnel syndrome, perioral fibrosis, sublingual frenulum thickening [21]

↓ Table 1. Symptoms Observed in Different Organs and Organ Systems for Amyloidosis Compared to Scleroderma

Amyloidosis

Scleroderma

ANCA: anti-neutrophil cytoplasmic antibody; GERD: gastroesophageal reflux disease; GI: gastrointestinal.

Kidney

Nephrotic proteinuria, especially albuminuria

Scleroderma renal crisis, proteinuria and microalbuminuria, ANCA-associated glomerulonephritis [14]

Heart

Congestive heart failure. Coronary involvement with angina, palpitations, syncope, atrial fibrillation being the most common arrhythmia [15]

Heart failure, coronary vasospasm, cardiomyopathy, ventricular arrhythmias, pericarditis and pericardial effusion [16]

Liver

Hepatomegaly in the absence of cardiac involvement (> 15 cm)

Primary biliary cirrhosis

Nervous system

Paresthesia
Autonomic nervous system (orthostatic hypotension, diarrhea, constipation, vomiting, erectile dysfunction)

Sensory-motor peripheral neuropathy, autonomic neuropathy (altered vascular tone, altered gastrointestinal motility, cardiac rhythm irregularities, impotence)

Gastrointestinal system

Abdominal pain, change of bowel habits, altered gut motility, spontaneous bowel perforation, and GI bleeding [17]

Dysphagia, choking, GERD, gastroparesis, bloating, alternating constipation and diarrhea, colonic and small intestinal pseudo-obstruction, small intestinal bacterial overgrowth [18]

Lung

Tracheobronchial involvement most common: wheeze, stridor, cough, and recurrent pneumonia [19]

Interstitial lung disease, pulmonary hypertension, alveolar hemorrhage, pleural involvement [18]

Connective tissue

Macroglossia, carpal tunnel syndrome, and periorbital purpura [20]

Carpal tunnel syndrome, perioral fibrosis, sublingual frenulum thickening [21]

↓ **Table 2.** System-Specific Symptoms of Amyloidosis Compared to Scleroderma
	Amyloidosis	Scleroderma
Skin	Smooth and hyperpigmented papules. Hemorrhagic bullae and dissecting hematomas. Ecchymosis and purpura. Blue skin tint.	Skin hyperpigmentation or depigmentation. Telangiectasias. Degos like lesions. Digital tip ulcers and/or pitting at the fingertips.
Nails	Nail dystrophy. Chronic paronychia. Palmo digital swelling and induration.	Nail fold telangiectasia. Longitudinal ridging.
Mucous membranes	Macroglossia. Enlarged salivary glands. Tongue induration. Hemorrhagic mucosal bullae.	Oral mucosa atrophy and ulcers. Tongue rigidity.

↓ Table 2. System-Specific Symptoms of Amyloidosis Compared to Scleroderma

Amyloidosis

Scleroderma

Skin

Smooth and hyperpigmented papules. Hemorrhagic bullae and dissecting hematomas. Ecchymosis and purpura. Blue skin tint.

Skin hyperpigmentation or depigmentation. Telangiectasias. Degos like lesions. Digital tip ulcers and/or pitting at the fingertips.

Nails

Nail dystrophy. Chronic paronychia. Palmo digital swelling and induration.

Nail fold telangiectasia. Longitudinal ridging.

Mucous membranes

Macroglossia. Enlarged salivary glands. Tongue induration. Hemorrhagic mucosal bullae.

Oral mucosa atrophy and ulcers. Tongue rigidity.