Recent mapping of acute intermittent porphyria (AIP) in Sweden has Drugs contraindicated in acute porphyria (Läkemedel farliga vid akut porfyri), jointly. Pathogenesis and treatment of acute intermittent porphyria. R D Forrest [ PubMed]; Lithner F. Intravenös hematinbehandling av akut intermittent porfyri. All porphyrias result from partial deficiency of one of the enzymes of heme biosynthesis and, apart from the sporadic form of porphyria cutanea tarda, are.
|Published (Last):||9 July 2014|
|PDF File Size:||18.86 Mb|
|ePub File Size:||13.45 Mb|
|Price:||Free* [*Free Regsitration Required]|
Pathogenesis and treatment of acute intermittent porphyria.
GeneReviews is not responsible for the information provided by other organizations. Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. Prenatal Testing and Preimplantation Genetic Diagnosis Once the HMBS pathogenic variant has been identified in an affected family member, prenatal diagnosis for a pregnancy at increased risk and preimplantation genetic diagnosis for AIP are possible.
Avoid drugs and chemicals known to exacerbate porphyria, pkrfiria prescribed medication and over the counter medication. Pain more about pain management. GeneReviews Advanced Search Help. Liver transplantation is curative and reported from several centers [ Soonawalla et alIntermittanh et alDowman et al ]. Patients should be advised to register with an organization that provides warning jewelry in case of an accident e. Lead poisoning may also mimic the symptoms and disturb heme biosynthesis; however, anemia, akuut feature of lead poisoning, is not a feature of AIP.
Acute intermittent porphyria – Wikipedia
Penetrance The penetrance for clinical manifestations of an HMBS pathogenic variant is not accurately known. Acute intermittent porphyria AIP is inherited in an autosomal dominant manner. Quantitation of urine porphobilinogen excretion to establish a baseline for comparison with future measurements taken during symptoms suggestive of active porphyria. For issues to consider in interpretation of sequence analysis results, click here. Of all types of porphyria, acute intermittent porphyria is the most common type.
Knowledge about the safety of many drugs and other over-the-counter preparations in acute porphyrias is incomplete; however, evidence-based guidelines for assessment of drug porphyrogenicity have been published [ Thunell et alHift et al ].
Convulsions further information on anti-convulsants. Affected individuals may recover from acute AIP attacks within days, but recovery from severe attacks that are not promptly recognized and treated may take weeks or months.
More than eighteen different AIP mutations are currently recognised in the Swedish kindreds.
Consider patient-controlled analgesia and support from a pain team. Intravenous infusion of magnesium sulphate may be effective in controlling the adrenergic symptoms; human hemin must be administered to abort the attack. In fact, she may be the first and only U.
Increased fecal porphyrins in acute intermittent porphyria. Pathogenesis Two major hypotheses for the pathogenesis of the neurologic lesions that give rise to the clinical features of acute porphyria have been proposed: Good-quality information is now widely available from patient or professional organizations either in paper form or from the Internet; see Resources. She assists the profiria community….
GeneReviews is a registered trademark of the University of Washington, Seattle. Back, buttock, or limb pain may be a feature. Primary liver cancer, other malignancies, and mortality risks following porphyria: Symptoms are more common in women than men and very rare before puberty.
Views Read Edit View history. Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. Most patients present soon after birth and have severe photosensitivity, erythrodontia and hemolytic anaemia.
Molecular genetic testing is not required to confirm the diagnosis in a symptomatic individual but may help to confirm or refute a previous diagnosis of overt AIP in an individual who is in full clinical and biochemical remission [ Whatley et al ].
She first presented with AIP at 11 and is now Adopt safe practices maintenance of a regular, balanced diet; prompt treatment of infections; and reduction of stress.
To date, five children with homozygous HMBS pathogenic variants have been described. The acute porphyrias–a grouping of several variants, including acute intermittent porphyria and variegate porphyria–typically cause severe abdominal pain and neurologic symptoms, while erythropoietic porphyria patients may present with anemia, hypo- and hyperpigmentation of the skin, red urine, and reddish coloration of oprfiria teeth FIGURE.
Otherwise, it should be given promptly, if possible within 24 hours of admission, to any patient with severe symptoms severe pain, vomitingor who shows complications such intwrmittant seizures, hyponatraemia, or incipient neuropathy, and also to any patient intermittnat a history of a previous attack complicated by neuropathy. View in own window. Stress should be minimized by providing good analgesia.
Intermigtant J Clin Lab Invest. The course of acute attacks is highly variable within and between individuals. Chlorpromazine or promazine may help to decrease the requirement for analgesics. Renal histopathology typically shows diffuse glomerulosclerosis, interstitial changes, and ischemic lesions.
News and articles Systemic messenger RNA as an etiological treatment for acute intermittent porphyria. Treatment of Manifestations Acute Neurovisceral Attack Immediate treatment of an acute neurovisceral attack does not require confirmation ;orfiria the specific type of acute porphyria. ALA is often measured with PBG by specialist laboratories but does not appear to provide any significant additional diagnostic information in uncomplicated AIP see Differential Diagnosis.