Clinical management of gastrointestinal amyloidosis

Abstract

Amyloidosis is characterized by extracellular deposition of abnormal protein, consisting of primary, secondary, hemodialysis-related, hereditary, senile and localized type. Primary amyloidosis is associated with monoclonal light chains. Secondary amyloidosis is associated with inflammatory, infectious, and neoplastic diseases. Amyloid deposition in the gastrointestinal tract can manifest the symptoms including diarrhea, steatorrhea, or constipation. For diagnosis, one should obtain an immunofixation of serum or urine as well as biopsy sampling of gastrointestinal mucosa stained specifically. While most gastrointestinal complications are managed symptomatically, treatment depends upon the type of amyloidosis. Causal therapy is reserved for a select few from various subtypes of this disorder

Endoscopic Findings of Children with Familial Mediterranean Fever

“…Intestinal amyloidosis, which is one of the most serious and late complications of the disease develops as a result of deposits of amyloid in the intestinal lamina propria and submucosal veins. It may be asymptomatic as well as manifests as gastrointestinal system (GIS) symptoms such as abdominal pain, dysmotility, diarrhea, pseudo-obstruction, perforation, and malabsorption [ 6 ]. In addition, colchicine which is used in the treatment has many GIS side effects including chronic diarrhea, chronic abdominal pain and colitis [ 7 ].…”

Primary amyloidosis with initial gastrointestinal manifestation. A case report

“…According to Husby's classification, this disease can be either acquired or hereditary, generalized or localized 1 . Primary amyloidosis is a form of systemic amyloidosis, and is associated, in 10-15% of cases, with immunocyte dyscrasias [2][3][4][5][6][7][8][9] . At its core, it represents a grown, tumor-like neoplastic clone of the plasma cells in the bone marrow.…”

“…Most commonly the disease manifests with upper dyspeptic syndrome along with symptoms, such as pseudo-obstruction, gastric malformations, ulcers, and, although rarely encountered, hematoma 14,15 . This clinical presentation may mimic neoplasms or non-specific chronic colitis, as well as ischemic and microscopic colitis 4,7,15 . Anemia is not a prominent feature of primary amyloidosis but when present, it is most commonly due to multiple myeloma, or renal insufficiency, or hemorrhages in the digestive tract 14,15 .…”

“…Tissue samples with diagnostic value for amyloidosis can be: abdominal periumbilical adipose tissue, minor salivary glands, gingiva, and renal/skin tissue taken with fine-needle aspiration or surgical incision. The frequencies of amyloid accumulation in the GI tract are as follow: duodenal mucosa (100%), stomach (95%), rectum/sigmoid colon (91%), and esophagus (72%) [1][2][3][4] . Iida et al have reported other frequencies of amyloid deposition: 38% in the colon, 23% in the stomach, 17% in the rectum, 16% in the duodenum, and 6% in the jejunum and ileum 12 .…”

“…Iida et al have reported other frequencies of amyloid deposition: 38% in the colon, 23% in the stomach, 17% in the rectum, 16% in the duodenum, and 6% in the jejunum and ileum 12 . Nevertheless, the most common material used for diagnosis is abdominal adipose tissue, which is positive in 70% of cases with amyloidosis 4 . The duodenum might also be an appropriate site for endoscopic biopsy since it has been determined that the positivity of amyloid deposition was the highest in duodenal mucosa 11,12 .…”