Primary systemic amyloidosis presenting as idiopathic inflammatory colitis

Area of Science:

• Cardiology
• Gastroenterology
• Hematology

Background:

• Amyloidosis is a rare condition characterized by the buildup of abnormal proteins in organs.
• Systemic light chain amyloidosis (AL) is associated with plasma cell disorders, often myeloma.

Observation:

• A 75-year-old female initially presented with non-cardiac chest pain.
• Subsequently, she developed gastrointestinal symptoms including bloody diarrhea, abdominal pain, dyspepsia, and weight loss, leading to diagnoses of inflammatory colitis and erosive gastritis.
• Later, she presented with severe heart failure, ECG changes, and restrictive cardiomyopathy.

Findings:

• Histopathology and Congo red staining confirmed amyloid deposits in gastrointestinal biopsies.
• Investigations revealed an underlying light chain myeloma as the cause of systemic (AL) amyloidosis.
• The patient's condition rapidly deteriorated, leading to death.

Implications:

• This case highlights the diverse and often delayed presentation of AL amyloidosis.
• It underscores the importance of considering systemic amyloidosis in patients with unexplained gastrointestinal and cardiac symptoms.
• Timely diagnosis and management of the underlying plasma cell disorder are critical for improving outcomes in AL amyloidosis.