Gastrointestinal amyloidosis: Approach to treatment

Abstract

The main treatment goals in amyloidosis are twofold: 1) to diagnose the underlying disease state accurately to guide effective primary therapy (if available) and 2) to ameliorate symptoms. The correct diagnosis is essential because disease-modifying therapies vary widely according to the underlying primary pathology. Primary treatment options remain limited. The best evidence is for high-dose chemotherapy, followed by autologous stem cell transplantation in patients with primary systemic amyloidosis. High-flux hemodialysis (HD) may prevent HD-related amyloidosis. Liver transplantation may be an option for patients with familial amyloidotic polyneuropathy. Several novel specific therapies are under investigation, including small molecule drugs and vaccines. Their efficacy and safety in humans remain to be demonstrated. In the absence of specific cures, symptom-directed therapy assumes a paramount role and can improve quality of life by mitigating diarrhea or pain, for example.

Guidelines on the management of AL amyloidosis

“…In advanced intestinal amyloid, nausea is frequently a prominent symptom. Anti-emetics should be used to control nausea and vomiting (Hayman et al, 2001;Poullos & Stollman, 2003). …”

Primary Rectal Amyloidosis in a Patient with Human Immunodeficiency Virus

“…2,3 The most common GI manifestations include bleeding, malabsorption, obstruction or pseudo-obstruction, poor motility, infarction, ischemia, nodules or ulceration. 1,5,6 Our patient had intermittent diarrhea. AA amyloidosis has been reported in intravenous or subcutaneous ("skin-popping") drug abusers, some of whom have been HIV-infected.…”

“…Radiological and angiographic diagnostic studies are generally insensitive and nonspecific for the diagnosis. 1 Endoscopic findings such as a fine granular pattern and polypoid protrusions are common and may reflect amyloid deposition in the mucosa or submucosa of the GI tract. 5 The characteristic histological finding is an amorphous material with apple green birefringence under polarized light after Congo red staining.…”

“…5 The characteristic histological finding is an amorphous material with apple green birefringence under polarized light after Congo red staining. 1,2 The deposition of AL type amyloid protein in the GI tract was marked in the muscular layer of the mucosa, and in the blood vessel walls of the submucosa and muscularis propria, whereas for the AA type the lamina propria is primarily involed. 2,3 The most common GI manifestations include bleeding, malabsorption, obstruction or pseudo-obstruction, poor motility, infarction, ischemia, nodules or ulceration.…”

“…1 The gastrointestinal (GI) tract is a common site of amyloid deposition. However, organ-specific, solitary amyloid deposition is very rare in the GI tract.…”