Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alpha Heavy Chain Disease has generally been described in the Mediterranean area in young people with a diffuse gastrointestinal lymphoma and malabsorption. We describe a patient from the United States with polypoid lymphoma of the gastrointestinal tract and a prolonged clinical course, who had the characteristic alpha heavy chain disease protein. He did not have malabsorption, and the gastrointestinal tract, though containing multiple discrete lymphomatous polyps had little plasmacytic reaction. Lymphosarcoma cell leukemia developed late in the course and the malignant cells had the characteristics of B lymphocytes but did not contain alpha heavy chains. The data support the contention that the lymphoma in this form of alpha heavy chain disease may involve B lymphocytes but that the abnormal protein may be produced by other cells. Polypoid varieties of gastrointestinal lymphoma in North America must now be considered part of the spectrum of alpha heavy chain disease and the diagnostic protein searched for diligently.
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PMID:New presentation of alpha heavy chain disease: North American polypoid gastrointestinal lymphoma. Clinical and cellular studies. 41

alpha CD is an immunoproliferative disorder which is most frequently, but not always, associated with the disease entity referred to as Mediterranean lymphoma with malabsorption. In most cases, the evolution of the disease and its morbid anatomy suggests an immune deficiency state in which an abnormal clone of intestinal plasma cells incapable of producing the complete IgA molecule proliferates, perhaps in response to microbial antigenic stimulation. In the majority of cases, this proliferation is composed of mature appearing plasma cells which lack morphologic features of malignancy. Although possibly reversible, this proliferation appears to be highly susceptible to the evolution of secondary neoplastic clones, which appear in most instances after a clinical course of unpredictable duration and manifest themselves in the form of single or multiple immunoblastic sarcomas.
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PMID:The pathologic anatomy of alpha chain disease. 82 78

Nine cases of Mediterranean lymphoma with alpha heavy chain disease are described. All patients were young, aged between 11 and 22 years. Neither sex predominated in the series. The clinical presentation of the disease was either gastrointestinal, with chronic diarrhea and malabsorption, or neoplastic, with tumors frequently associated with either obstructive or perforative complications. Finger clubbing and retardation of physical growth (height and weight) and secondary sexual maturation were usually evident. The laboratory manifestations of the malabsorption syndrome were scant and generally not specific. The intestinal lesions predominated in the beginning of the small bowel, and their gross appearance varied from one case to another: diffuse thickening of the intestinal wall, alone or associated with tumors, or isolated segmentary tumors. Massive mesenteric lymph node enlargement was present in all cases; in some cases hepatic, splenic, or extra-abdominal lymph node spread was noted. Histologically, these lesions demonstrated a varied cellular morphology, but seemed to belong constantly to the B-lymphocytic line. The secretion and excretion by these cells of an abnormal IgA (devoid of light chains), which was revealed by immunoelectrophorectic study of the patients' sera, was the main biochemical abnormality of the disease. This disease presents several problems: 1) its relationship with other intestinal lymphomas; 2) the nature and the degree of malignancy of the intestinal cellular infiltrates; and 3) its identification as a clinicopathologic entity, with the possibility that infectious and genetic factors are significant in its etiology and pathogenesis.
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PMID:Mediterranean lymphomas with alpha heavy chain monoclonal gammopathy. 82 21

Five cases of primary intestinal lymphoma are described. The main clinical features included abdominal pain, diarrhea, and marked weight loss, together with radiologic and some laboratory findings suggestive of malabsorption. Laparatomy perfomed in four cases revealed dilatation of the small intestine, with mesenteric node enlargement. In these four instances there was a definite histologic evidence of malignant lymphoma, either initially or later in the course of the disease. A characteristic feature here was the diffuse infiltration of the intestinal mucosa with plasma cells, which in the deeper layers became progressively atypical and were mixed with histiocytes and giant cells. A similar infiltrate was seen in the mesenteric nodes. Immunoelectrophoresis showed the pattern of IgA heavy chain disease. It is suggested that the latter is a variant of primary intestinal lymphoma and not a separate disease entity.
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PMID:Primary intestinal lymphoma with paraproteinemia. 111 50

IgA heavy chain disease (alpha chain disease) was detected in a 46 year old South American (Colombian) of mixed Spanish and Indian (Mestizo) descent. The clinical course was characterized by severe malabsorption, initially thought to be a variant of tropical sprue. Jejunal mucosal biopsy revealed marked villous atrophy with heavy infiltration of the lamina propria by a single monotonous cell type which, by light microscopy, had the appearance of either a large, abnormal plasma cell or a small histiocyte. Electron microscopy of the biopsy specimen demonstrated the presence of abnormal plasma cells, lymphatic distention and abnormalities of surface epithelial cells. At autopsy a 6 by 3 cm mass was found in the right para-aortic area along with many firm 2 cm mesenteric and para-aortic lymph nodes. Histologic examination revealed the presence of a monotonous cell type similar to that found in the jejunal mucosal biopsy specimen.
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PMID:IgA heavy chain disease. A case detected in the western hemisphere. 111 76

Diamine oxidase (DAO) is an enzyme located almost exclusively in villus tip enterocytes. Its plasma activity is enhanced by intravenous heparin which releases the enzymes from small bowel enterocytes into the blood. Plasma postheparin DAO (PHD) values have been shown to be significantly lower in patients with malabsorption and villous atrophy, thus suggesting that PHD reflects the mature enterocytic mass. In this study we have assayed PHD in five patients with small bowel lymphoma (two with immunoproliferative small intestinal disease [IPSID] and three with non-IPSID lymphoma) associated with malabsorption syndrome and small bowel mucosa atrophy. The PHD test was performed at diagnosis, after partial or complete remission induced by chemotherapy, and during the follow-up. The PHD values, very low at diagnosis (0.66 +/- 0.12 U/ml), increased during chemotherapy and reached the normal range (greater than 3.7 U/ml) when complete remission occurred. The PHD values rapidly and consistently decreased whenever the disease relapsed. Our data indicate that in patients with small bowel lymphoma PHD test is a sensitive marker of small bowel mucosa damage and suggest that it could be useful in monitoring the recovery of mucosal lesions induced by chemotherapy.
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PMID:Plasma postheparin diamine oxidase in patients with small intestinal lymphoma. 189 7

From 1987 to 1989, 7 patients were diagnosed as having a primary lymphoma of the small bowel. The patients, 5 men and 2 women aged 14-66 years (average: 45), were studied by means of small bowel enema and CT. Using small bowel enema, our findings were: masses related to a loop, stenosis, mucosal patterns with thick, irregular, and nodular folds, and bowel walls thickening. In nearly all cases CT showed not only small bowel lesions but also mesenteric lymphadenopathy. Five of seven patients had lymphomas, 1 had IP-SID lymphoma (immunoproliferative small intestinal disease related lymphoma), and 1 had IPSID associated with a late prelymphomatous stage. The diagnosis of IPSID is very important in patients with malabsorption syndrome, which may or may not be related to alpha heavy chain disease, because IPSID may evolve into lymphoma but its prelymphomatous stage can be treated and cured. We have therefore reported the different features seen with enteroclysis and CT, comparing the results obtained in the various forms of lymphoma of the small bowel. The importance is stressed of an accurate diagnosis of IPSID forms, however uncommon in our Country.
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PMID:[Primary lymphoma of the small intestine: clinico-radiological correlations]. 202 38

Primary intestinal lymphomas (PIL) include a number of interesting clinical and pathological subtypes with distinct geographic, socioeconomic and age distribution patterns. This report describes clinical and pathologic features of 37 Iraqi children with PIL seen 1965-1983. Three distinct groups were recognized: Mediterranean lymphoma, 11 patients, characterized by diffuse involvement of the proximal bowel; commonly presents with abdominal pain, diarrhea and malabsorption; Burkitt's lymphoma, 13 patients, characterized by localized tumor in the distal ileum or ileocecal region; commonly presents with intussusception, abdominal tumor and pain, and Non-Burkitt's lymphoma, 13 patients, usually occurs as localized tumors in the distal ileum; commonly presents with abdominal tumor, pain and intestinal obstruction.
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PMID:Primary intestinal lymphoma in Iraqi children. 242 21

Twelve patients with primary small intestinal lymphoma were followed prospectively for 3 years. Endoscopic abnormalities were diagnostic of lymphoma in all cases where the duodenum was involved (83%). In three cases (25%) the disease extended to the stomach. One patient (8%) had diffuse small cell cleaved and 11 (92%) diffuse large cell lymphoma stages I (8%), II (25%), III (58%) and IV (8%). Nine of them were unresectable and primarily treated with combination chemotherapy; 67% achieved complete remission, 22% partial response and 11% no response. Only one patient relapsed and achieved a second remission. All complete remission patients are currently alive and free of disease at a median follow-up of 36 months. Overall survival for all patients is 58%, and disease-free survival is 50%. No instance of chemotherapy-related bleeding or perforation was seen. Tetracycline was necessary for the treatment of IPSID-associated diarrhea and malabsorption in spite of cytotoxic chemotherapy.
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PMID:Combination chemotherapy for primary small intestinal lymphoma in the Middle East. 247 76

A high incidence of intestinal lymphoma has been noted in the Middle East since the early 1960's. Initially thought to be a single entity, Middle Eastern intestinal lymphoma is now perceived as at least 3 distinct types. Mediterranean lymphoma (MTL), also known as alpha chain disease and immunoproliferative small intestinal disease (IPSID), occurs in the proximal small intestine of young adults who present with malabsorption. Histologically a phase of plasma cell infiltration is followed by invasive lymphoma. In approximately 50% of cases an alpha 1 heavy chain paraproteinaemia is present. Intestinal lymphoma of so called Western type (WTL) occurs in older patients without malabsorption or a paraproteinaemia. The lymphoma is of follicular center cell type and there is no preceding plasma cell infiltrate. Recent work suggests that both MTL and WTL belong to a distinctive group of lymphomas that specifically arise from mucosa associated lymphoid tissue. The third type of Middle Eastern intestinal lymphoma occurs predominantly in the ileo-caecal region of children and is histologically indistinguishable from Burkitts lymphoma.
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PMID:Middle Eastern intestinal lymphoma. 384 95


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