Chyloperitoneum and amyloidosis

Chyloperitoneum is very infrequent in peritoneal dialysis. It has been described in patients diagnosed of systemic amyloidosis. We present the case of a patient in program of peritoneal dialysis, with familial amyloidosis type Andrade disease that presented intermittent and recidivante chyloperitoneum.     

Primary amyloidosis presenting as small bowel encapsulation.

Amyloidosis is a pathological process which encompasses a spectrum of diseases that result from extracellular deposition of pathological fibrillar proteins. Clinical presentations vary depending on the organs involved. There is no documented case of amyloidosis presenting as small bowel encapsulation. A previously healthy 62-year-old man developed a small bowel obstruction in 1997. At surgery, a peculiar membrane encasing his entire small bowel was discovered. This appeared to have no vascularity and was removed without difficulty, exposing a grossly normal bowel. Histopathology revealed thick bands of collagen overlying the peritoneal surface, which was congo red positive and showed apple green birefringence. The findings were consistent with encapsulating peritonitis due to amyloidosis. There was no history or symptoms of any chronic inflammatory condition and he became symptom-free postoperatively. An abdominal fat pad biopsy failed to demonstrate amyloidosis. Endoscopic duodenal biopsies revealed classical primary amyloidosis. Quantitative immunoglobulins, lactate dehydrogenase, C3, C4 and beta-2 microglobulin were normal. Protein electrophoresis identified monoclonal paraprotein, immunoglobulin G lambda 3.7 g/L. Bone marrow biopsy and aspirate revealed only a mild plasmacytosis (5% to 10%). Echocardiogram and skeletal survey were normal. He had mild proteinuria. Complete blood count, C-reactive protein, calcium, albumin and total protein were normal. No specific therapy was instituted. In January of 1998 the patient remained asymptomatic with no gastrointestinal, cardiovascular or constitutional symptoms. He had developed nephrotic range proteinuria (3.95 g/24 h), microalbuminuria, hypoalbuminemia and a renal biopsy consistent with renal amyloidosis. In 1999 there was an increase in the monoclonal paraprotein (6.2 g/L). The remaining investigations were normal except for an echocardiogram which showed left ventricular hypertrophy but a normal ejection fraction and no diastolic dysfunction. He went on to have high-dose chemotherapy and an autologous stem cell transplant in September, 2000. He has subsequently developed renal insufficiency. To our knowledge this is the first reported case of primary amyloidosis presenting as small bowel obstruction from encapsulating peritonitis.     

Renal transplantation for apolipoprotein AII amyloidosis

Apolipoprotein AII (ApoAII) amyloidosis, first reported in 2001 in a family with renal amyloidosis, is associated with mutations in the stop codon of the apolipoprotein AII gene resulting in a carboxyl terminal peptide extension of 21 amino acid residues in the protein. Since death from this form of amyloidosis is due to renal failure, kidney dialysis and renal transplantation are presently the only two therapeutic options. We report the case of a Caucasian man who developed proteinuria in his late 20's, had renal biopsy at the age of 33 which gave the diagnosis of renal amyloidosis, and required continuous ambulatory peritoneal dialysis by age 45. He received a cadaver renal transplant at age 47 and has maintained stable renal function for nine years without other evidence for organ system dysfunction from amyloidosis. Laboratory studies Confirmed persistence of the ApoAII variant in the patient's plasma in addition to the normal ApoAII protein. This is in agreement with the DNA analysis which showed the patient to be heterozygous for the ApoAII stop78Gly mutation. These results indicate that renal transplantation is an effective therapy for apolipoprotein AII amyloidosis since recurrence of amyloid in the graft and progression of other organ involvement may be very slow.     

Pseudotumoral gastric amyloidosis

INTRODUCTION: Localized gastric amyloidosis is rare. It should be considered in differentiation of gastric tumors, in which biopsy is the only means to confirm the diagnosis. CASE REPORT: A 56-year old male patient presented dysphagia and vomiting. A plastic linitis was suggested by endoscopic ultrasonography. Total gastrectomy and clearance of perigastric lymph nodes were performed. The postoperative pathological diagnosis determined the lesion to be localized gastric amyloidosis and no malignant tumor was found. No sign of recurrence has been found one year after surgical resection. DISCUSSION: Currently, surgical resection of pathological tissue and circumambient lymph nodes may be a preferable therapeutic strategy for the localized amyloidosis to prevent possible complications.     

Diagnosis of systemic amyloidosis and amyloidosis mediated cardiomyopathy by VATS pleural biopsy for chronic pleural effusion

Amyloidosis is a family of diseases characterized by the extracellular accumulation of amyloid protein, causing altered physiology based on its abnormal deposition in an organ. The etiology of persistent pleural effusions in patients with systemic amyloidosis is unknown. Endomyocardial biopsy is the gold standard of diagnosis for patients with cardiac involvement in systemic amyloidosis. We present the case of a patient with systemic amyloidosis whose diagnosis was made by pleural pathology collected via video-assisted thoracic surgery after a false negative endomyocardial biopsy.KEY WORDS : Pleural effusion, amyloidosis, cardiac amyloidosis, video assisted thoracic surgery     

The epidemiology of amyloidosis in Queensland,Australia

Published studies on the epidemiology of amyloidosis have relied on death certificate data for case ascertainment. We estimated the incidence and mortality burden of amyloidosis among residents of the Australian state, Queensland, aged ≥20 years for the years 1999–2013 based on case ascertainment from histopathology reports. Information systems for participating laboratories were scrutinised to identify histopathology reports that documented a diagnosis of amyloidosis. Case mortality status was determined via linkage to the National Death Index. A total of 447 cases of amyloidosis were identified, with a median age at diagnosis of 66 years. A plasma cell dyscrasia was identified in 72% of patients who had paraprotein studies performed. The estimated incidence for Queenslanders aged ≥20 years was 12·1 cases per million person years. The median survival was 2·45 years. Age at diagnosis, presence of a paraprotein, earlier year of diagnosis, and inner regional location of residence (compared with residence in a major city) were independently associated with reduced survival. Our data confirms previously reported incidence data for amyloidosis of approximately 10 cases per million patient years and indicates that survival for Queensland patients with amyloidosis is improving, though it remains poor for the elderly and patients with AL amyloidosis.     

Bullous amyloidosis in a hemodialysis patient is myeloma-associated rather than hemodialysis-associated amyloidosis

We report a 78-year-old woman on hemodialysis who presented with refractory multiple pruritic vesicles and bullae on her trunk and extremities for 2 months. Histopathologic examination of skin biopsy specimen showed subepidermal bullae with many amyloid deposits in the papillary dermis. No evidence of systemic amyloidosis could be found on physical examination. While the initial clinical diagnosis was bullous pemphigoid, the histopathology and direct immunofluorescence result favored hemodialysis-associated amyloidosis. However, immunochemical study for β₂-microglobulin was negative. Further hematologic and immunologic work-up revealed the presence of multiple myeloma and that the deposit was AL amyloid. This is the first case of bullous amyloidosis in a hemodialysis patient and should remind dermatologists that bullous amyloidosis should be considered in addition to the usual presentation of porphyria cutanea tarda and pseudoporphyria for bullous dermatosis in the hemodialysis patient. We also suggest that hemodialysis-associated amyloidosis should not be taken for granted in the hemodialysis patient with cutaneous amyloidosis without systemic signs and symptoms. Further testing for other types of amyloid should be performed.     

Lung cancer combined with diffuse peritoneal and mesenteric amyloidosis detected on 18F-FDG PET/CT: A case report

Rationale:Amyloidosis is a heterogeneous group of diseases characterized by extracellular deposition of amyloid fibrils. Lung carcinoma is rarely reported to be associated with AA amyloidosis. With regard to the manifestation of amyloidosis infiltrating organs, most of the cases focus on the heart, liver, kidneys, and peripheral nervous system. Amyloidosis with diffuse abdominal involvement in combination with pulmonary squamous cell carcinoma carcinoma is an exceptionally rare occurrence.Patient concerns:A 70-year-old man was admitted to hospital for a 2-month history of repeated cough, low grade fever, hemoptysis and left back shoulder pain, which was not relieved by nonsteroid anti-inflammatory drugs. Meanwhile, he complained of intermittent diffuse abdominal discomfort and chronic persistent constipation.Diagnoses:The patient was diagnosed with poorly differentiated lung squamous cell carcinoma and diffuse peritoneal and mesenteric amyloidosis based on the pathological biopsy.Interventions:The patient received surgery and chemotherapy for lung tumor. He did not receive any treatment against amyloidosis.Outcomes:The patient died of a severe respiratory infection.Lessons:This case indicates that lung carcinoma is suspected to play a causative role in the development of amyloidosis. In addition, amyloidosis should be considered in the differential diagnosis in cases in which diffuse greater omentum, peritoneal, and mesenteric calcifications on ¹⁸F-2-fluoro-2-deoxy-D-glucose(¹⁸F-FDG) photon emission computed tomography (PET/CT).     

内镜及病理对胃肠道淀粉样变的诊断意义

目的 探讨淀粉样变的胃镜、肠镜表现特点以及粘膜活组织检查对其诊断的价值。方法 分析内镜诊断的10例淀粉样变患者资料（男5例，女5例），分别总结胃镜、肠镜表现及其活组织检查特点。结果 胃肠道淀粉样变患者的临床症状包括腹痛、便血或黑便、腹胀、慢性腹泻。5例接受胃镜检查的患者中，3例发现淀粉样变，阳性病变包括溃疡、结节、粘膜剥脱、瘢痕，还有1例患者在外观正常处取材确诊。8例接受肠镜检查的患者中，均发现淀粉样变，阳性病变包括息肉、溃疡、粘膜剥脱、结节不平及粘膜充血、水肿等。结论 胃肠道是淀粉样变的好发部位之一，内镜检查可发现病变，其粘膜活组织检查具有重要的诊断价值。     

Bullous amyloidosis in a hemodialysis patient is myeloma-associated rather than hemodialysis-associated amyloidosis.

We report a 78-year-old woman on hemodialysis who presented with refractory multiple pruritic vesicles and bullae on her trunk and extremities for 2 months. Histopathologic examination of skin biopsy specimen showed subepidermal bullae with many amyloid deposits in the papillary dermis. No evidence of systemic amyloidosis could be found on physical examination. While the initial clinical diagnosis was bullous pemphigoid, the histopathology and direct immunofluorescence result favored hemodialysis-associated amyloidosis. However, immunochemical study for beta(2)-microglobulin was negative. Further hematologic and immunologic work-up revealed the presence of multiple myeloma and that the deposit was AL amyloid. This is the first case of bullous amyloidosis in a hemodialysis patient and should remind dermatologists that bullous amyloidosis should be considered in addition to the usual presentation of porphyria cutanea tarda and pseudoporphyria for bullous dermatosis in the hemodialysis patient. We also suggest that hemodialysis-associated amyloidosis should not be taken for granted in the hemodialysis patient with cutaneous amyloidosis without systemic signs and symptoms. Further testing for other types of amyloid should be performed.     

Intestinal pseudo-obstruction in systemic amyloidosis

The occurrence of clinical manifestations of mechanical intestinal obstruction in eight cases of systemic amyloidosis is reported. Seven similar cases have been recorded in the literature and are briefly reviewed. Correct diagnosis is important in these cases if useless surgical treatment or prolonged diagnostic investigations are to be avoided. Gastrointestinal involvement by systemic amyloidosis should be considered in a patient presenting with clinical manifestations of mechanical obstruction but paralytic ileus seen on plain films. In these cases an attempt should be made, by means of a barium enema, to exclude an obstructing lesion of the colon or distal small bowel. Once amyloidosis is considered, it can be confirmed easily and safely by biopsy of the rectal or small-intestinal mucosa.     

A case report of localized gastric amyloidosis

AIM: To elucidate the clinical and laboratory features of localized gastric amyloidosis via a rare report along with a review of related literatures. METHODS: The clinical manifestations, laboratory results and surgical treatment of a female patient with localized gastric amyloidosis in our hospital were summarized. The relevant literatures were reviewed on the etiology, clinical features, diagnosis, treatment and prognosis of this disease. RESULTS: The patient was lack of specific clinical manifestations and positive laboratory results. Prior to the treatment, she was suspected to be of malignization from gastric ulcer by both gastroscopy and endoscopic ultrasonography, which was denied by the gastric biopsy. The patient was treated with subtotal gastrectomy and clearance of perigastric lymph nodes. The postoperative pathological diagnosis determined the lesion to be the deposition of amyloid materials in the gastric mucosa, submucosa and blood vessel walls with intestinal metaplasia and atrophy of the gastric glands, in which no malignant tumor was found. Congo red staining with prior potassium permanganate incubation confirmed the AA type of amyloid in this case. Multiple biopsies from esophagus, remnant stomach, duodenum, colon and bone marrow in the follow-up survey showed no amyloidal deposition in these tissues and organs. Up to the present, no signs of recurrence have been found in this patient. CONCLUSION: Localized gastric amyloidosis, being rare in incidence, should be considered in the differentiation of gastric tumors, in which biopsy is the only means to confirm the diagnosis. Currently, surgical resection of pathological tissue and circumambient lymph nodes may be a preferable therapeutic strategy for the localized amyloidosis to prevent possible complications. Although with a benign prognosis, gastric amyloidosis possesses a recurrent tendency as suggested by the literatures.     

Increased fibrinolysis and amyloidosis

We studied three patients with amyloidosis who had a significant hemorrhagic disorder secondary to increased fibrinolysis. In two of the three patients, bleeding was one of the major initial problems; in the other patient, bleeding occurred later in the course of the disease. All three patients were men with primary or myeloma-associated amyloidosis (ie, immunoglobulin-related or AL). None of the patients had significantly impaired liver function at the time of the diagnosis of increased fibrinolysis. At admission, fibrinogen levels were 60, 170, and 90 mg/dL in the three patients. All three patients had short euglobulin clot lysis times (less than 30 minutes) and evidence of in vitro clot lysis. One patient appeared to respond to aminocaproic acid (EACA). In patients with amyloidosis and bleeding, fibrinolytic tests should be done; in patients with increased fibrinolysis, a diagnosis of amyloidosis should be considered.     

Globular amyloidosis of the colon

Gastrointestinal involvement is frequent in systemic amyloidosis. However, amyloidosis can rarely be confined to the gastrointestinal tract or appear as a tumour mass. There have been few reports describing amyloid globular deposits in a variety of locations, as opposed to the usual linear ones. We herein report a rare case of globular amyloidosis involving the large bowel, which to the best of our knowledge is the second reported in the world literature.A 74-year-old man consulted on anaemia. Endoscopy showed ulcerative lesions in the left colon, which were biopsied and diagnosed as ischemic colitis. Under light microscopy, we found globular discrete deposits in the lamina propria which were Congo red-positive and resistant to permanganate digestion. Histopathological diagnosis was globular amyloidosis with AL deposits. The patient underwent further studies, including a haematologic evaluation that discarded systemic involvement.Globular amyloidosis seems to be a rare morphologic type of amyloidosis, but not a distinct entity. Its etiology, pathogenesis and relationship with patient prognosis and disease severity remain largely unknown. When amyloid deposits are confined to the gastrointestinal tract, systemic therapy can be avoided and patients should only be followed periodically. Immunohistochemical classification and clinical correlation are essential to rule out systemic amyloidosis.     

Dialysis support of patients with primary systemic amyloidosis. A study of 211 patients.

BACKGROUND--The study assessed dialysis support in patients with primary systemic amyloidosis without associated multiple myeloma in whom renal insufficiency developed. METHODS--The study group consisted of 211 patients with biopsy-proved primary systemic amyloidosis examined at the Mayo Clinic, Rochester, Minn. No patient was lost to follow-up. RESULTS--Thirty-seven (18%) of the patients received dialysis therapy. Of those presenting with renal amyloid, one third received dialysis. The median time from diagnosis to initiation of dialysis was 13.8 months. The median survival for patients from the start of dialysis was 8.2 months. There was no survival difference between hemodialysis (n = 27) and peritoneal dialysis (n = 10). The most important predictors of which patients would ultimately require dialysis were the 24-hour urinary protein loss and serum creatinine values at the time amyloidosis was diagnosed. None of the patients seen at diagnosis with a normal serum creatinine value and proteinuria of less than 2 g/d required dialysis during follow-up. Of the 37 patients who received dialysis, 31 died, and 21 of the 31 died as a result of extrarenal progression of their systemic amyloidosis. Fifteen of the 31 deaths were a result of cardiac amyloidosis. All long-term survivors had normal echocardiograms without evidence of amyloid. CONCLUSION--Eighteen percent of patients with primary amyloidosis undergo dialysis. The 24-hour urinary protein loss and creatinine values are helpful in predicting which patients eventually will require dialysis. The median survival for patients starting dialysis is less than 1 year. Patients whose two-dimensional echocardiograms are normal are most likely to derive long-term benefit from dialysis.     

Crohn's disease and amyloidosis. An association to be considered]

Two instances of Crohn's disease and amyloidosis are presented. The time elapsed between the diagnosis of Crohn's disease and that of amyloidosis was 2 and 8 years respectively. The first case had hepatosplenomegaly and moderate proteinuria; the other one, severe proteinuria in the nephrotic syndrome range. One patient had ileocolic disease and the other disease limited to the terminal ileum. In both cases renal functional was normal. The diagnosis was made by liver biopsy in one patient and by repeated renal biopsy in the one with nephrotic syndrome. Ileocolic resection was undertaken in one patient without complications. Screening for amyloidosis is important in patients with Crohn's disease.     

Gastric amyloidosis with massive bleeding requiring emergency surgery

We report a 66-year-old woman who had massive bleeding from a gastric ulcer complicating primary systemic amyloidosis, in whom emergency surgery proved lifesaving. Physical examination revealed anemia and macroglossia. Gastroscopy was performed, and an extensive, irregular, hemorrhagic ulcer was found in the gastric body. Biopsy resulted in a diagnosis of amyloidosis. On the 11th hospital day the patient went into shock as a result of a massive hemorrhage. Emergency surgery was performed, but the extent of the submucosal lesion in the stomach could not be identified, and total gastrectomy was unavoidable. Histological examination of the surgical specimen and biopsy tissue collected from other organs revealed amyloid deposition extending from the submucosa to the muscularis propria of the stomach. There was also deposition of large amounts of amyloid around the small blood vessels in the liver and under the mucosa of the small intestine. The amyloid was AA-antibody-negative and resistant to treatment with K₂MO₄, and a diagnosis of AL-type systemic amyloidosis was made. The patient's general condition recovered after the operation, but on the 103rd hospital day, she experienced sudden onset of arrhythmia and died. Patients with amyloidosis in whom gastrointestinal surgery is performed are rare; only 41 cases, including our own, have been reported in the Japanese literature since 1972. Received: December 8, 1999 / Accepted: March 24, 2000     

Primary amyloidosis associated with IgD-lambda M-proteinemia

We describe here a case of primary AL amyloidosis associated with IgD monoclonal gammopathy of undetermined significance. A 73-year-old man was referred to our hospital with suspected multiple myeloma due to renal failure and urinary Bence Jones protein. Although serum electrophoresis revealed IgDlambda monoclonal protein, the bone marrow did not showed plasma cell proliferation. Systemic bone survey disclosed no lytic bone lesions. Because the patient had macroglossia and multiple ecchymosis in the face and neck, primary amyloidosis was suspected. Skin biopsy revealed extensive deposition of amyloid which was positively stained by Congo red dye. A diagnosis of primary AL amyloidosis associated with IgD monoclonal gammopathy was made. The patient was also complicated renal failure that eventually needed hemodialysis. To our knowledge, this is the first report of primary AL amyloidosis associated with IgD monoclonal gammopathy with undetermined significance.     

Systemic AL amyloidosis mimicking rheumatoid arthritis

We report a patient with myeloma-associated systemic AL amyloidosis who showed chronic polyarthralgia as the main symptom. The clinical picture was similar to that of rheumatoid arthritis with regard to symmetrical swelling with tenderness in multiple joints, but inflammatory reactions were almost normal and autoantibodies were negative. He was diagnosed as having systemic AL amyloidosis based on deposition of kappa-light chain-immunoreactive amyloid in biopsied tissue and Bence Jones protein in serum and urine. Magnetic resonance imaging and bone scintigraphy suggested this disease as the cause of the polyarthralgia. Systemic AL amyloidosis may be important in the differential diagnosis of chronic polyarthralgia.     

A case of primary colon amyloidosis presenting as hematochezia

Amyloidosis is characterized by a deposition of insoluble fibrils in various organs and tissues. Amyloid deposition, in the gastrointestinal track, provokes a dysfunction of the organ, due to an accumulation of fibrils, and causes a variety of clinical symptoms and endoscopic findings. Primary amyloidosis in the gastrointestinal tract is rarely reported in Korea. We experienced a case of recurrent intestinal bleeding, in a 59-year-old female patient with primary amyloidosis. A colonoscopy revealed the presence of multiple large circular ulcers. In the entire colon, diffuse nodular lesions with edema and bleeding were found. A colonoscopic biopsy established the diagnosis of amyloidosis, to the exclusion of other disease components. We concluded that the patient had localized amyloidosis. Though a definitive therapeutic strategy has not been established for localized gastrointestinal amyloidosis, the patient has been successfully treated with a high-dose of steroids and azathioprine.