Primary Systemic Amyloidosis with Extensive Gastrointestinal Involvement

Abstract

We report this case of a 42-year-old woman who presented with a debilitating illness manifested by intractable nausea, vomiting, diarrhea and unchecked weight loss. The patient had multisystem involvement that presented as anemia, abnormal liver function tests and progressively deteriorating renal function necessitating dialysis. She was found to be profoundly hypoalbuminemic secondary to malabsorptive and protein-losing enteropathy in tandem with nephrotic range proteinuria. Intolerance to enteral feeding led the patient to be dependent on parenteral nutrition. Serum immunofixation revealed IgG lambda monoclonal protein. The patient underwent endoscopic evaluation with biopsies taken from the gastrointestinal tract that confirmed the diagnosis of primary systemic light-chain amyloidosis. A subsequent bone marrow biopsy revealed normocellular bone marrow with deposition of amyloid. The patient was not considered for autologous stem cell transplantation as the outcomes in patients with multisystem involvement are often poor, with a high mortality risk. Diffuse primary systemic light-chain amyloidosis involving the gastrointestinal tract is a rare entity and is to be considered among differentials in patients presenting with unexplained malabsorptive symptoms.

Primary amyloidosis with initial gastrointestinal manifestation. A case report

“…The best established mechanism is that abnormalities in the coagulation status, such as acquired deficiency of factor X, increase the risk of intestinal hemorrhages in patients with amyloidosis 3,10-12 . Another mechanism that was also observed in our case and contributed to bleedings is the deposition of amyloid in the vascular walls and in muscularis mucosae, leading to ischemia, hematochezia and perforations 11,12 . In this regard, one year prior to colectomy, our patient had a bleeding duodenal ulcer, most likely as a sign of progression of amyloidosis.…”

“…Initially, the disease can manifest with complications, such as hemorrhages from the upper and lower parts of the digestive tract, as it was in our case as well 1,2,7,12 . According to Spier et al, gastrointestinal hemorrhages may appear in 5% of patients with amyloidosis, however, Gaduputi et al have reported an incidence of up to 45% 3,11 . Several mechanisms have been described in the literature, explaining GI hemorrhages caused by accumulation of amyloid protein.…”

“…In 70-79% of cases, the gastrointestinal (GI) tract is affected by primary amyloidosis, and in 55% -by secondary amyloidosis 2,10 . The median age of presentation of primary systemic amyloidosis is usually in the sixth to seventh decade of life 11 . Clinically, the accumulation of amyloid in the GI tract can manifest with upper and lower dyspeptic syndrome.…”

“…Clinically, the accumulation of amyloid in the GI tract can manifest with upper and lower dyspeptic syndrome. However, in 57% of cases, GI amyloidosis initially manifests with GI bleedings 3,10,11 . The endoscopic image of the digestive tract in patients with amyloidosis can show abnormal findings, such as polypoid lesions, erosions, ulcerations, and nodules 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 . The presence of monoclonal immunoglobulins (light chains) in serum/urine or a pathologic clone of the plasma cells in the bone marrow is at the basis of the diagnosis of amyloidosis.…”