Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020639 (hypoproteinemia)
 1,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Intestinal lymphangiectasia (IL) may vary widely in its manifestations and severity. Fifteen children seen between 1960 and 1974 with histologically proven IL are analyzed by clinical, laboratory, radiologic, and histologic criteria. Remissions occurred in most patients and none died. Exacerbations occurred in five children. Diarrhea was present in 14 patients and in 13 appeared before the age of 3 years. Vomiting occurred in nine patients and growth retardation in seven. Four children had associated peripheral lymphedema and two of these had a family history of lymphedema, both had affected fathers and one had affected siblings and paternal cousins. Seven had hypoproteinemic edema, and of these, four suffered from hypocalcemic seizures. Chylous effusions were present in five. Hypoproteinemia was present in 12 although five had no hypoalbuminemic edema. Six had lymphopenia which was related to the severity of the disease and was the last abnormality to disappear after clinical remission. Lymphopenia may first appear years after the protein loss begins. Upper gastrointestinal tract series were performed in 13 children and had diagnostic supportive value in seven. Six children had two or more small-intestinal biopsies done. They all showed great variation from one examination to the other, ranging from a normal appearance to severe changes. Lymphatic block may occur at different sites-in the lamina propria only, generalized (lamina propria, submucosa, serosa, and mesentery), or conversely in the mesentery alone with minimal changes in the lamina propria. In three patients intravenous hyperalimentation was necessary. Specific treatment with a high-protein, low-fat diet with added medium-chain triglyceride (MCT) is valuable. Surgical resection was of benefit in one patient, and anastomosis of mesenteric to para-aortic lymph nodes in another.
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PMID:Intestinal lymphagiectasia: a reappraisal. 113 84

Of 300 congenital malformations of the lymphatics of the small intestine investigated, 120 were operated upon. Intestinal lymphography shows no injection of the cisterna chyli and histology proves that the mesenteric lymph nodes are abnormal. The induced hyperlipidemia test permits a biochemical diagnosis. Modifications of the flow of the chyle secondary to the hypoplasia of the cisterna chyli were studied: (1) in the abdominal cavity, (2) in the extraperitoneal region and the lower limb, (3) in the thorax, especially the chyle drainage channels from the diaphragm towards the cervical region. Our investigations have established that the following diseases are produced by malformation of the lymphatics of the small intestine: protein losing enteropathy, chyloperitoneum, chyluria, lymphedema with chyle reflux, chylothorax, chylopericardium, chyle reflux in the pulmonary lymphatics, hypoproteinemia and food allergies. A better understanding of the pathophysiology of the malformations of the intestinal lymphatics permits a more rational treatment of the diseases produced by this anomaly.
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PMID:Congenital malformation of the lymphatics of the small intestine. 201 16

A patient with Whipple's disease presented with a long prodromal period characterized by granulomatous lymphadenitis and progressive lymphedema of the extremities. No gastrointestinal tract symptoms were present and a small bowel biopsy sample was normal. His clinical condition deteriorated with the onset of lymphocytic myocarditis. At autopsy, intestinal involvement with macrophages that stained positively with periodic acid-Schiff was limited primarily to the submucosa. Diffuse fibrous effacement of lymph nodes with afferent lymphangiectasia seemed to be the mechanism of diffuse lymphedema, protein-losing enteropathy, and hypoproteinemia. Whipple's disease, therefore, should be considered in the differential diagnosis of patients presenting with granulomatous disease, lymphocytic myocarditis, or unusual lymphedema.
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PMID:Lymphedema, lymphocytic myocarditis, and sarcoidlike granulomatosis. Manifestations of Whipple's disease. 246 22

Thirty-five cases of histiocytosis X in the National Children's Hospital were clinicopathologically studied. Fourteen cases were categorized in diffuse histiocytosis X, Letterer-Siwe type (DHX), 19 cases in multifocal eosinophilic granuloma (MEG) and 2 cases in unifocal eosinophilic granuloma (UEG). Nine of 14 DHX died, of which 6 died of opportunistic infection due to hypoproteinemia and pancytopenia, and 3 died of pulmonary fibrosis probably due to histiocytic infiltration and resultant lymphedema. Infiltration of histiocytes in the bone marrow, thymus and lungs, in addition to the lymphoreticular organs, was conspicuous in autopsy cases of DHX. Skin biopsy was valuable for diagnosis and the immunostaining with anti-S100 antibody was a good marker to characterize infiltrating histiocytes. Prognostic factors and effects of treatments were also evaluated. Only one of 19 MEG died of opportunistic viral infection, but a longer duration for treatment was usually necessary compared to that for DHX. Pathogenesis of histiocytosis X was discussed in relation to T-zone histiocytes.
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PMID:A clinicopathological study of histiocytosis X. 633 90

Disorders of the intestinal lymphatic transport system are rare and typically associated with protein losing enteropathy (PLE). Hypoproteinemia caused by intestinal lymphangiectasia is often associated with lymphedema of the legs and occasionally with chyluria, chylometrorrhea and chylous ascites. This article examines the varied presentations of lymphangiectasia syndromes including its pathophysiology. Diagnosis is based on signs and symptoms, specific laboratory findings, and confirmed by contrast small bowel series, lymphography and best of all laparoscopy. We describe 12 patients with PLE secondary to primary intestinal lymphangiectasia (1980-1991). Treatment was non-operative (dietary) in 8 patients and surgical in 4 including segmental resections of the jejunum in two, lymphatic-mesenteric venous anastomosis in one, and peritoneal-venous (LeVeen) shunt in one with overall satisfactory results.
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PMID:Disorders of the intestinal mesenteric lymphatic system. 835 19

Noonan's syndrome is a rare congenital disorder that may be associated with abnormalities in the lymphatic drainage. In this case of a 21-year-old man CT after bipedal lymphangiography confirmed the diagnosis of intestinal lymphangiectasy causing protein-losing enteropathy in Noonan's syndrome by showing contrast-enhanced abnormal lymphatic vessels in the mesentery and the intestinal wall. Because of the benefit of diet in case of intestinal involvement, we recommend a thorough documentation of the lymphatic drainage with lymphangiography followed by CT, if clinical signs of lymphatic dysplasia, such as pleural effusions, lymphedema, or hypoproteinemia are present.
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PMID:Computed tomography after lymphangiography in the diagnosis of intestinal lymphangiectasia with protein-losing enteropathy in Noonan's syndrome. 1104 30

The underlying cause of primary lymphedema is a malformation of the lymph vessel system. Secondary lymphedemas can be due to infections, recurrent inflammation, hypoproteinemia, tumors, operations, or irradiation. As a reaction to persistent edema and interstitial macromolecules, fibrosis occurs. Recurrent inflammations of the indurated and edematous tissue are clinically impressive. The massive form of the scrotal lymphedema leads to painful tautness and sexual dysfunction. A concurrent penile edema can cause dysuria. The deformity of the affected extremities and organs not only leads to restriction of mobility but also to psychological stress due to the disfigurement, even as far as to social deprivation. We report on a surgical technique for treating pronounced scrotal edema by resection and neoscrotal reconstruction using ventral pedunculated scrotal skin flaps in cases of congenital hereditary elephantiasis of the Meige type.
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PMID:[Surgical therapy of scrotal edema in elephantiasis congenita hereditaria (Meige type)]. 1242 69

The case of a 26-year-old female patient with abdominal pain, nausea, hypoproteinemia, enteric loss of plasma proteins, lymphedema, severe steatorrhea and malabsorption, is presented. Enteroclysis and sonography were performed. Based on the case history and the characteristics of focal lesion and intestinal folds provided by the two radiologic examinations, a specific diagnosis of intestinal lymphangiectasia, confirmed at biopsy, could be established. Intestinal lymphagiectasia is a very uncommon condition characterized by dilated submucosal lymphatic channels.
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PMID:Intestinal lymphangiectasia. 1515 44

Primary intestinal lymphangiectasia (Waldmann's disease) is characterized by protein-losing enteropathy occurring more frequently in childhood. Chronic diarrhea and diffuse edema are the main clinical manifestations. Peripheral lymphedema may also be associated. Lymphedema is usually present at the time of diagnosis or appears later in the course of the disease. We report the observation of a 31-year-old man suffering from an upper, lower limb and genital lymphedema many years before diagnosis of primary intestinal lymphangiectasia was established. Lower limb lymphoscintigraphy confirmed lymphedema and duodenal biopsies lymphangiectasia. Hypoproteinemia, lymphopenia and hypogammaglobulinemia were also noted. Treatment of lymphedema included low stretch bandaging and elastic stocking. No dietary management with a low-fat diet was added. Search for primary intestinal lymphangiectasia with biological parameters would be useful when primary lymphedema is present. Especially since primary intestinal lymphangiectasia may be complicated by occurrence of B cell lymphoma.
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PMID:[Limb lymphedema as a first manifestation of primary intestinal lymphangiectasia (Waldmann's disease)]. 1522 6

Intestinal lymphangiectasia in the adult may be characterized as a disorder with dilated intestinal lacteals causing loss of lymph into the lumen of the small intestine and resultant hypoproteinemia, hypogammaglobulinemia, hypoalbuminemia and reduced number of circulating lymphocytes or lymphopenia. Most often, intestinal lymphangiectasia has been recorded in children, often in neonates, usually with other congenital abnormalities but initial definition in adults including the elderly has become increasingly more common. Shared clinical features with the pediatric population such as bilateral lower limb edema, sometimes with lymphedema, pleural effusion and chylous ascites may occur but these reflect the severe end of the clinical spectrum. In some, diarrhea occurs with steatorrhea along with increased fecal loss of protein, reflected in increased fecal alpha-1-antitrypsin levels, while others may present with iron deficiency anemia, sometimes associated with occult small intestinal bleeding. Most lymphangiectasia in adults detected in recent years, however, appears to have few or no clinical features of malabsorption. Diagnosis remains dependent on endoscopic changes confirmed by small bowel biopsy showing histological evidence of intestinal lymphangiectasia. In some, video capsule endoscopy and enteroscopy have revealed more extensive changes along the length of the small intestine. A critical diagnostic element in adults with lymphangiectasia is the exclusion of entities (e.g. malignancies including lymphoma) that might lead to obstruction of the lymphatic system and "secondary" changes in the small bowel biopsy. In addition, occult infectious (e.g. Whipple's disease from Tropheryma whipplei) or inflammatory disorders (e.g. Crohn's disease) may also present with profound changes in intestinal permeability and protein-losing enteropathy that also require exclusion. Conversely, rare B-cell type lymphomas have also been described even decades following initial diagnosis of intestinal lymphangiectasia. Treatment has been historically defined to include a low fat diet with medium-chain triglyceride supplementation that leads to portal venous rather than lacteal uptake. A number of other pharmacological measures have been reported or proposed but these are largely anecdotal. Finally, rare reports of localized surgical resection of involved areas of small intestine have been described but follow-up in these cases is often limited.
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PMID:Intestinal lymphangiectasia in adults. 2136 42


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