Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute intermittent porphyria mimics a variety of commonly occurring disorders and thus poses a diagnostic quagmire. Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness ranging from somnolence to coma. Some patients develop psychosis similar to schizophrenia. Psychiatric hospitals have a disproportionate number of patients with this disorder as only difficult and resistant patients accumulate there. Presence of photosensitive porphyrins in the urine is diagnostic. When porphyrins are absent, excess of alpha aminolevulinic acid and porphobilinogen are present in the urine. The definitive test is to measure monopyrrole porphobilinogen deaminase in RBCs. This diagnosis should be entertained in the following situations: (a) unexplained leukocytosis; (b) unexplained neuropathy; (c) etiologically obscure neurosis or psychosis; (d) 'idiopathic' seizure disorder; (e) unexplained abdominal pain; (f) conversion hysteria, and (g) susceptibility to stress. Porphyria is important in psychiatry as it may present with only psychiatric symptoms; it may masquerade as a psychosis and the patient may be treated as a schizophrenic person for years; the only manifestation may be histrionic personality disorder which may not receive much attention. Diagnosis is based on a high index of suspicion and appropriate investigation. Various psychotropic drugs exacerbate acute attacks. While it is important not to use the unsafe drugs in porphyric patients, it is also imperative to look for this diagnosis in cases where these drugs produce unprecedented drug reactions.
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PMID:Porphyria: reexamination of psychiatric implications. 865 42

Acute intermittent porphyria (AIP) is a rare disorder of heme metabolism, which usually presents with abdominal pain, gastrointestinal symptoms and autonomic nervous system disturbances. Exacerbations first presenting during pregnancy can mimic various neuropsychiatric disorders and presents a challenging diagnosis. Furthermore, factors precipitating AIP attacks may be associated with pregnancy, including exposure to certain drugs, hyperemesis gravidum induced starvation, dieting and infection. The present case demonstrates the need for a high level of suspicion in order to diagnose this disorder in pregnancy and prevent further morbidity.
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PMID:Acute intermittent porphyria first diagnosed in the third trimester of pregnancy. Case report. 877 45

Hepatic porphyrias are characterized by neurological symptoms manifested by abdominal pain, neuropathies and mental aberrations. Porphyrins are ubiquitous and essential biochemical constituents of living beings acting as mediators of oxidation reaction in the metabolism of the steroid, drugs, environmental chemicals or as a mean of exchanging gases, such as oxygen and carbon dioxide between the environment and the tissue of the body using endogenous polypeptide properties. The different porphyrins arising from the arrangement of normal heme synthesis are characterized by an accumulation and excretion of specific intermediate porphyrins and/or of precursors exerting toxic effect, initiating cascades of generations of polypeptides, neurotransmitters and gut-brain axis peptide responsible for the symptoms of clinical status. We studied polypeptide levels in 27 patients (19 females, 8 males) presenting acute attack of hepatic porphyria: 2 with ALA dehydratase-deficient porphyria; 9 with acute intermittent porphyria; 12 with porphyria cutanea tarda and 4 with variegate porphyria. During acute attacks of porphyria, polypeptides were found to be constantly increased: vasoactive intestinal polypeptide (VIP); neurotensin (NT); substance P; pancreatic polypeptide; gastrin-releasing peptide; gastrin and motilin. Administration of the somatostatin (antagonizing polypeptide), which was undetectable or low before treatment, apparently alleviated the acute symptomatology. Elevated levels of polypeptides, at least partly, contribute to appearance of acute symptoms in porphyria patients.
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PMID:Polypeptide levels increase during acute onset of hepatic porphyrias. 907 85

Acute intermittent porphyria (AIP) is transmitted as an autosomal dominant disorder with incomplete penetrance. Recent population studies suggest that the prevalence of asymptomatic heterozygotes for a mutant AIP gene may be in the range of 1 in 2,000. Clinical manifestations include abdominal pain and neurological dysfunctions. These symptoms occur during acute attacks, which are often precipitated by drugs, alcohol, low caloric intake, or infections. Biochemical abnormalities are thought to result from primary defects of porphobilinogen deaminase (PBGD; also called hydroxymethyl bilane synthase), the third enzyme of the heme synthesis pathway, and consecutive hepatic overexpression of the first enzyme of the pathway, 5-aminolevulinate synthase. As a result of these enzymatic disturbances, heme precursors are synthesized in excess in the liver, and massive amounts of compounds upstream of the enzymatic block are excreted in urine. Although the pathophysiology of the disease has not yet been fully elucidated, a specific treatment of acute attacks with heme has improved the prognosis. The cDNAs and the gene encoding PBGD have been isolated, permitting identification of mutations that account for the corresponding enzymatic deficiencies. Consequently, DNA analysis improves the accuracy of detection of presymptomatic heterozygotes in AIP families, permitting better counseling.
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PMID:Acute intermittent porphyria. 951 74

Four types of hepatic porphyria (acute intermittent porphyria; hereditary coprophorphyria; variegate porphyria; delta-aminolevulinate dehydratase deficiency porphyria) present clinically with an identical neurological syndrome. Symptoms include severe abdominal pain, vomiting, constipation, hypertension, tachycardia, and bladder dysfunction. These symptoms have been ascribed to autonomic neuropathy. Other symptoms are motor weakness and sensory involvement, which correlate with peripheral axonal neuropathy, and mental symptoms occurring without clear morphological findings in the cerebrum. The pathogenetic mechanisms which lead to the neurological dysfunction have remained poorly understood, partly due to the lack of a suitable animal model of these rare disorders. Two hypotheses, the possible neurotoxicity of delta-aminolevulinate (ALA) and heme deficiency in nervous tissue are discussed and corresponding data from porphobilinogen-deaminase deficient mice are presented. The present evidence suggests that multiple mechanisms interact in causing the varied symptoms, including ALA interaction with GABA receptors, altered tryptophan metabolism, and possibly heme depletion in nerve cells.
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PMID:Acute porphyrias: pathogenesis of neurological manifestations. 951 77

Three hepatic porphyrias--acute intermittent porphyria, hereditary coproporphyria and variegate porphyria--are characterized by episodic acute attacks that consist of various neuro-psychiatric symptoms and signs, such as abdominal pain, vomiting, constipation, hypertension and tachycardia associated with increased excretion of porphyrins and porphyrin precursors. Peripheral neuropathy is manifested as pain in the extremities, and it may progress to a severe motor neuropathy. Measurement of porphobilinogen in the urine gives a prompt diagnosis during acute attacks. Attacks are often induced by precipitating factors such as drugs, alcohol, infection, fasting or changes in sex-hormone balance, and they should be eliminated when a patient is treated during an attack. Heme, the end biosynthetic product, is the most effective therapy for restoration of porphyrin biosynthesis to normal, and it is usually infused at 3 mg/kg daily for 4 days. Adequate calories are necessary and parenteral nutrition with carbohydrates may be necessary. Attacks may also require therapy for hypertension, pain and epileptic seizures. Strict avoidance of all precipitating factors may not be necessary in the asymptomatic phase.
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PMID:Management of the acute porphyrias. 963 23

We report the case of a 38-year-old woman with acute intermittent porphyria (AIP). Following the observation of an acute AIP attack in the patient's father, the diagnosis was established after genetic and biochemical examinations. At the age of 29, eight months after delivery of her first and only child, the patient was hospitalized due to a first proven attack of AIP. In the following years she suffered several premenstrual AIP attacks, with clinical symptoms ranging from abdominal pain to paralysis. One attack was accompanied by an increased urinary catecholamine output, strongly indicating adrenergic hyperactivity. The precipitation of acute episodes by secretion of gonadotrophins and a severe hyponatraemia due to a syndrome of inappropriate anti-diuretic hormone secretion indicated hypothalamic involvement in the pathogenesis of AIP. This patient has experienced an evolution of treatment regimens. At first, acute attacks were treated by i.v. hypertonic glucose. Afterwards propranolol was instituted as a maintenance therapy. Later on, i.v. injections of haem arginate were very successful in resolving acute AIP episodes. However, until therapy with an LHRH analogue was started, the patient continued to suffer premenstrual AIP attacks. These LHRH analogues cause hypothalamic inhibition of gonadotrophin secretion, with stabilization of endogenous ovarian steroid production at a low level, and therefore may be effective in preventing acute exacerbations of this disease. Since this patient went on a fixed regimen of an LHRH analogue combined with the lowest dose oestrogen patch her quality of life has improved substantially and she has not required hospitalization, now for over 3 years.
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PMID:Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report. 1040 23

Acute intermittent porphyria (AIP) is the most common type of hepatic acute porphyria. In this work, we have analyzed the biochemical data of all Argentinean AIP families studied in the Porphyrins and Porphyrias Research Centre (CIPYP). We have shown that: (i) the prevalence for this population is about 1:125,000; (ii) the disease is more frequent in women than in men (7:3); (iii) about 60% are latent carriers; (iv) 15% of patients with symptomatic AIP died during an acute attack; (v) the most important precipitating factors of acute attacks in our population were the ingestion of therapeutic drugs (25%), anesthetics in surgical interventions (25%) and infections (20%); (vi) the initial symptom in Argentinean AIP individuals is severe abdominal pain (100%), and it is often accompanied by constipation (37%), anorexia (37%) and tachycardia (30%); and (vii) the percentage of recurrence of the acute attacks is high (81%).
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PMID:Acute intermittent porphyria: biochemical and clinical analysis in the Argentinean population. 1052 59

Acute intermittent porphyria (AIP) is an inherited disorder of heme metabolism. It can produce a variety of symptoms including abdominal pain. In Spain it is an uncommon disease and consequently may not be included in the differential diagnosis of acute abdominal pain. Two cases of AIP are reported, both of which started with recurrent abdominal pain. A brief commentary of the main topics of the disease is made with special emphasis on the importance of an early diagnosis.
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PMID:[Acute intermittent porphyria: a possible cause of abdominal pain]. 1065 Jun 63

A 44-year-old woman with acute intermittent porphyria (AIP) was admitted to Kudanzaka Hospital because of abdominal pain. A cholecystectomy was performed in another hospital without improvement. On admission, her transaminases were elevated to greater than 1,000 mU/ml. After an intravenous drip of mainly glucose, her transaminases returned to normal. Her acute attacks occurred during stress, and she died of respiratory failure after repetitive acute episodes. AIP should be included in a list of the differential diagnosis of gastrointestinal diseases, neurosis, and hysteria. This is the first case of AIP accompanied by transient marked elevation of transaminases during an acute attack.
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PMID:Acute intermittent porphyria associated with transient elevation of transaminases during an acute attack. 1067 48


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