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

Blood flow disturbances in the gastrointestinal tract can lead to serious illness. They can be acute or chronic, their cause may be arterial or venous occlusion or hypotonia. Lesions of the gastrointestinal tract caused by ischemia depend on localisation, acuteness and degree of the blood flow disturbance. They may reach from focal and segmental ischemic lesions to extensive necroses of the entire intestinal tubes. The most serious ischemic disease is the embolic and thrombotic occlusion of the arteria mesenterica superior due to previous arterosclerotic damage. Infarction of a large part of the intestines and peritonitis can be the consequence. These patients' only chance of survival is early diagnosis--as a rule exclusively via angiography--and immediate surgery. Chronic occlusion of the arteria mesenterica superior leads to angina abdominalis which mainly occurs after food intake and can last for hours. The reason may also be a general arteriosclerosis. Men are affected more frequently and at a younger age than women. As a consequence of lowered intestinal blood flow these patients suffer from malabsorption and heavy weight loss. Conservative therapy is not effective. These patients, too, will have to be treated surgically after previous angiography. Vascular disease with decreased blood flow as its consequence can be found in a number of inflammatory diseases, in malign hypertensian, in collagen disease and in other more rare diseases as pseudoxanthoma elasticum or Ehlers-Danlos-syndrome. In the case of ischemic colitis arterial and more rarely venous occlusions cause decreased blood flow in the big bowel. A frequent consequence is colitis in the left colon which is characterized by acuteness, pain in the left side of the abdomen and by heavy rectal bleeding. Diagnosis is established by means of endoscopy, barium enema and angiography. Primarily therapy of ischemic colitis is of the conservative type. In severe cases with gangrene and peritonitis the colon has to be resected.
 ...
PMID:[Disorders of the blood circulation in the gastrointestinal tract]. 32 26

A patient with somatic features of both Marfan and Ehlers-Danlos syndromes presented with severe intestinal malabsorption. Functional intestinal abnormalities were thought to be due to bacterial overgrowth associated with small intestinal hypomotility and giant jejunal diverticula. The structural intestinal defects are presumed to be the result of defective collagen synthesis in these hereditary connective tissue disorders.
 ...
PMID:Malabsorption in Marfan (Ehlers-Danlos) syndrome. 404 74

The authors describe 7 male patients from two unrelated families who presented with what appears to be a heretofore undiagnosed X-linked variant of Ehlers-Danlos syndrome. Unlike the eight previously reported types, this variant is manifested by specific skeletal abnormalities, including occipital exostoses, widening and bowing of multiple long bones at tendinous and ligamentous insertion sites, and deformed clavicles. Major clinical complications include genitourinary problems, chronic diarrhea with malabsorption, and/or syncopal episodes. Laboratory tests suggest that this variant may represent the true lysyl-oxidase-deficient form of Ehlers-Danlos syndrome.
 ...
PMID:Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features. 646 46

Joint hypermobility syndrome (JHS), or Ehlers-Danlos syndrome (EDS) hypermobility type (EDS-HT), is a underdiagnosed heritable connective tissue disorder characterized by generalized joint hypermobility and a wide range of visceral, pelvic, neurologic, and cognitive dysfunctions. Deterioration of quality of life is mainly associated with pain and fatigue. Except for the recognized effectiveness of physiotherapy for some musculoskeletal features, there are no standardized guidelines for the assessment and treatment of pain and fatigue. In this work, a practical classification of pain presentations and factors contributing in generating painful sensations in JHS/EDS-HT is proposed. Pain can be topographically classified in articular limb (acute/subacute and chronic), muscular limb (myofascial and fibromyalgia), neuropathic limb, back/neck, abdominal and pelvic pain, and headache. For selected forms of pain, specific predisposing characteristics are outlined. Fatigue appears as the result of multiple factors, including muscle weakness, respiratory insufficiency, unrefreshing sleep, dysautonomia, intestinal malabsorption, reactive depression/anxiety, and excessive use of analgesics. A set of lifestyle recommendations to instruct patients as well as specific investigations aimed at characterizing pain and fatigue are identified. Available treatment options are discussed in the set of a structured multidisciplinary approach based on reliable outcome tools.
 ...
PMID:Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach. 2278 15