Localized amyloidosis of the stomach： A case report

We report an unusual case of primary amyloidosis of the stomach in a patient complaining of dyspeptic symptoms. The diagnosis was confirmed histologically and other gastrointestinal site or systemic involvement was ruled out, Uncharacteristic dyspeptic symptoms may hide this rare metabolic disease.     

Localized amyloidosis of the stomach mimicking a superficial gastric cancer

A 73-year-old man was referred to our hospital for further examination of a depressed lesion in the stomach found by cancer screening gastroscopy. A barium upper gastrointestinal series showed an area of irregular mucosa measuring 15 mm on the anterior wall of the gastric body. Esophagogastroduodenoscopy revealed a 15 mm depressed lesion on the anterior wall of the lower gastric body. We suspected an undifferentiated adenocarcinoma from the appearance and took some biopsies. However, histology of the specimens revealed amyloidal deposits in the submucosal layer without malignant findings. Congo red staining was positive for amyloidal protein and green birefringence was observed under polarized light microscopy. Congo red staining with prior potassium permanganate incubation confirmed the light chain (AL) amyloid type. There were no amyloid deposits in the colon or duodenum. Computed tomography of the chest, abdomen, and pelvis showed no remarkable findings. Thus, this case was diagnosed as a localized gastric amyloidosis characterized by AL type amyloid deposition in the mucosal or submucosal layer. As the clinical outcome of gastric AL amyloidosis seems favorable, this case is scheduled for periodic examination to recognize potential disease progression and has been stable for 2 years.     

Localized oral amyloidosis of the palate

Background.?Amyloidosis is a rare disease with multifactorial pathogenesis. Localized amyloidosis affecting the head and neck region is an uncommon and benign process, which has almost no clinical consequences. The most reported characteristic features of localized oral amyloidosis appear as multiple soft nodules of the tongue, lip and cheek.

Methods.?We report the case of a 68-year-old woman suffering from a primary localized amyloidosis presenting as a purple patch on the palate.

Conclusions.?The presence of systemic amyloidosis or underlying plasma cell dyscrasia have to be ruled out in patients presenting with a diagnosis of amyloidosis of the oral mucosa. If a primary localized amyloidosis is proven, the surgical therapy may be useful to eliminate a functional impairment.     

Localized amyloidosis of glans penis

We describe a case of black Caribbean man who presented with penile rash for several months. The rash showed no improvement with topical steroid or anti-bacterial/fungal creams. A subsequent tissue biopsy and further investigations confirmed the diagnosis of localized amyloidosis.     

Localized oral amyloidosis of the palate.

BACKGROUND: Amyloidosis is a rare disease with multifactorial pathogenesis. Localized amyloidosis affecting the head and neck region is an uncommon and benign process, which has almost no clinical consequences. The most reported characteristic features of localized oral amyloidosis appear as multiple soft nodules of the tongue, lip and cheek. METHODS: We report the case of a 68-year-old woman suffering from a primary localized amyloidosis presenting as a purple patch on the palate. CONCLUSIONS: The presence of systemic amyloidosis or underlying plasma cell dyscrasia have to be ruled out in patients presenting with a diagnosis of amyloidosis of the oral mucosa. If a primary localized amyloidosis is proven, the surgical therapy may be useful to eliminate a functional impairment.     

Localized amyloidosis of the breast: a case series

We report on the clinical presentation and histopathology of a series of seven patients with localized amyloidosis of the breast. These patients were diagnosed by biopsy performed to rule out malignancy because of calcifications seen by mammography, and represented 0.5% of patients referred to the Amyloid Treatment and Research Program at Boston University Medical Campus in an 18-year period. The patients ranged in age from 35 to 75, median 63 years. None of these seven patients had evidence of a systemic plasma cell dyscrasia or amyloidosis in other organs, nor did systemic disease develop with a median follow-up of 6 years. Thus, other than excisional biopsy to exclude malignancy, no systemic therapy is indicated for this disorder.     

Localized amyloidosis of the urethra presenting as painful erection

Localized amyloidosis of the urethra is a rare condition that usually produces obstructive voiding symptoms and /or hematuria. We report the unique case of a man who presented with painful erections. He was managed successfully by local endoscopic excision.     

Localized AL amyloidosis of the colon: an unrecognized entity

Virtually all patients who present with rectal bleeding and amyloid of the colon have evidence of systemic amyloidosis and require therapy. The small subset of patients with amyloidosis localized to the colon must be recognized and treatment avoided. We queried our file for patients who had amyloidosis of the colon but no evidence of systemic amyloidosis during long-term follow-up. We identified 3 patients who presented with rectal bleeding and who, on investigation, had primary amyloidosis of the colon but no evidence of systemic amyloidosis during a follow-up of 4.5 to 20 years. These patients had no evidence of a plasma cell dyscrasia and received no chemotherapy to prevent deposition of amyloid. It is important to recognize this rare subset and avoid treatment with alkylating agents or high-dose therapy followed by autologous stem cell transplantation. Alkylating agent therapy may be associated with myelodysplasia or acute leukemia. In addition, the cost, inconvenience, and morbidity of therapy are avoided by observation. Patients who present with rectal bleeding and a subsequent diagnosis of amyloidosis of the colon likely will be subjected to chemotherapy or transplantation. Such patients must be recognized and treatment avoided if there is no evidence of systemic amyloidosis because they remain stable for many years.     

Localized conjunctival amyloidosis due to familial Mediterranean fever

Clinical Rheumatology -     

Localized amyloidosis: A survey of 35 French cases

Since the prognosis of localized amyloidosis remains unclear, we conducted a survey to define the characteristics and the course of this disease. The charts of 35 patients with either laryngeal (14 patients), tracheobronchial (10 patients), colonic (1 patient), or lower urinary tract amyloidosis (10 patients) were analyzed. The average age at diagnosis was 52.7 ± 12 years (range 33–73 years). The amyloid protein type was specified to be amyloid light chain (AL) in 15 cases. All patients had undergone additional biopsies (accessory salivary glands, rectal, fat pad and bone marrow aspirates) to rule out a systemic disease. Symptomatic treatments included endoscopic excision and laser therapy. Colchicine and chemotherapy with prednisone and melphalan were prescribed with limited success. During a mean follow-up period of 6.1 ± 5.3 years no patient developed a systemic form of amyloidosis. Six deaths were reported, one related to the disease because of a fatal airway hemorrhage.

We suggest that immunolabeling studies should be more routinely performed. There was no risk of developing a systemic disease from local amyloid deposits in our survey. However, local evolution can be life-threatening. Such patients should be referred to specialist centers for further evaluation. Management requires close follow-up to exclude recurrence and to determine the appropriate symptomatic treatment.     

Localized AL amyloidosis of the colon: an unrecognized entity.

Virtually all patients who present with rectal bleeding and amyloid of the colon have evidence of systemic amyloidosis and require therapy. The small subset of patients with amyloidosis localized to the colon must be recognized and treatment avoided. We queried our file for patients who had amyloidosis of the colon but no evidence of systemic amyloidosis during long-term follow-up. We identified 3 patients who presented with rectal bleeding and who, on investigation, had primary amyloidosis of the colon but no evidence of systemic amyloidosis during a follow-up of 4.5 to 20 years. These patients had no evidence of a plasma cell dyscrasia and received no chemotherapy to prevent deposition of amyloid. It is important to recognize this rare subset and avoid treatment with alkylating agents or high-dose therapy followed by autologous stem cell transplantation. Alkylating agent therapy may be associated with myelodysplasia or acute leukemia. In addition, the cost, inconvenience, and morbidity of therapy are avoided by observation. Patients who present with rectal bleeding and a subsequent diagnosis of amyloidosis of the colon likely will be subjected to chemotherapy or transplantation. Such patients must be recognized and treatment avoided if there is no evidence of systemic amyloidosis because they remain stable for many years.     

Localized tracheobronchial amyloidosis: a rare cause of pseudo-asthma

Localized tracheobronchial amyloidosis is an uncommon disease of unknown cause. Bronchial amyloid deposits can occur as focal nodules or multifocal infiltration of the submucosa. Clinical signs are not specific and the chest x-ray is usually normal. Diagnosis is rarely evoked before bronchial biopsies are done. We report a case of tracheobronchial amyloidosis disclosed by asthmatiform dyspnea. The diagnosis was obtained at bronchial fibroscopy performed as part of the work-up for secondary pneumonia.     

A case of localized AL-type amyloidosis of the stomach]

A 78-year-old woman was admitted to our hospital for treatment of liver cirrhosis and an esophageal varix. Endoscopy revealed a protruding nodular lesion with a transparent smooth surface proximal to the pylorus, which was accompanied by a partly yellow-whitish spot. A depressed lesion with an even edge was found. Histologically, the protruding lesion and depressed lesion showed amyloid deposits, mainly in the mucosal layer. The lesions were found to correspond to AL type amyloidosis by immunochemical analysis. General examination showed no other amyloid deposits. Thus, we diagnosed localized amyloidosis of the stomach.     

Localized amyloidosis: a survey of 35 French cases.

Since the prognosis of localized amyloidosis remains unclear, we conducted a survey to define the characteristics and the course of this disease. The charts of 35 patients with either laryngeal (14 patients), tracheobronchial (10 patients), colonic (1 patient), or lower urinary tract amyloidosis (10 patients) were analyzed. The average age at diagnosis was 52.7+/-12 years (range 33-73 years). The amyloid protein type was specified to be amyloid light chain (AL) in 15 cases. All patients had undergone additional biopsies (accessory salivary glands, rectal, fat pad and bone marrow aspirates) to rule out a systemic disease. Symptomatic treatments included endoscopic excision and laser therapy. Colchicine and chemotherapy with prednisone and melphalan were prescribed with limited success. During a mean follow-up period of 6.1+/-5.3 years no patient developed a systemic form of amyloidosis. Six deaths were reported, one related to the disease because of a fatal airway hemorrhage.We suggest that immunolabeling studies should be more routinely performed. There was no risk of developing a systemic disease from local amyloid deposits in our survey. However, local evolution can be life-threatening. Such patients should be referred to specialist centers for further evaluation. Management requires close follow-up to exclude recurrence and to determine the appropriate symptomatic treatment.