Floderus Y, Shoolingin- 1 Jordan P, Harper P. Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations . Porphyria, Acute Intermittent. Porfyri, akut intermittent. Engelsk definition. An autosomal dominant porphyria that is due to a deficiency of. porphyria intermittent acute; AIP; pyrroloporphyria; AIP – acute intermittent . ruwiki Острая перемежающаяся порфирия; svwiki Akut intermittent porfyri; thwiki.

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Plasma porphyrin concentration is always increased and fluorescence emission spectroscopy distinguishes VP from all other porphyrias. Intermittanh clinical presentation of AIP is highly variable and non-specific. Indications include repeated life-threatening acute attacks, failure of medical therapy, and poor quality of life [ Seth et al ].

Avoid drugs and chemicals known to exacerbate porphyria, particularly prescribed medication and over the counter medication. For mild acute neurovisceral attacks, a high carbohydrate intake, preferably oral and together with other supportive measures see Acute Neurovisceral Attackmay be used for up to 48 hours.

Intravenous human hemin is the most effective treatment for acute neurovisceral attacks. Other intermitttant complications are chronic renal failure, hepatocellular carcinoma HCCand hypertension. Full blood count FBC.

acute intermittent porphyria – Wikidata

It is infused over at least 30 minutes. Revision History 7 February me Comprehensive update posted live. Testing Strategy To confirm the diagnosis in a proband. From observation to a modern algorithm-based system for the prediction of porphyrogenicity. GeneReviews is not responsible for the information provided by other organizations. Molecular Genetic Testing Gene.


Screening for hepatocellular carcinoma in acute intermittent porphyria: A family history consistent with autosomal dominant inheritance of an acute porphyria; however, is often absent given the low penetrance of clinical manifestations of AIP see Penetrance. Depo-Provera and implanted hormone preparations are intermittxnt dangerous — because they cannot be removed if an attack starts — and should never be used. Medical therapy aims to reduce the frequency and or severity of acute attacks by the following measures:.

In an obstetric emergency, no drug should be restricted if it is likely to be of major clinical benefit or is required in a life-threatening situation.

Porphyria, Acute Intermittent

Tachycardia and hypertension are frequent, while fever, sweating, restlessness, and tremor are seen less frequently.

In persons known to have AIP consider other causes of abdominal pain in addition to porphyria.

Far Outside the box: Severe abdominal pain, which may profiri generalized or localized and not accompanied by muscle guarding, is the most common symptom and is often the initial sign of an acute attack.

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Results should be corrected for urine concentration by expression as the ratio of PBG to creatinine. Clinically manifest or overt AIP.

Pathogenesis and treatment of acute intermittent porphyria.

The cause of hyponatremia is not clear; both SIADH syndrome of inappropriate antidiuretic hormone release and renal salt wasting have been proposed as mechanisms. In most countries AIP is the most common of the acute hepatic porphyrias [ Anderson et alPuy et al ].

Other Treatments Liver transplantation is curative and reported from porfidi centers [ Soonawalla et alWahlin et alDowman et al ]. The course of acute attacks is highly variable within and between individuals. Patients should be advised about support available from national patient associations where available. Lntermittant Read Edit View history. View in own window. With one exception 5-aminolevulinate dehydratase deficiency [ALAD]acute attacks of porphyria are associated with an increased urinary concentration of porphobilinogen PBG.

Pathogenesis and treatment of acute intermittent porphyria.

Treatment of an acute attack of porphyria during pregnancy. Between attacks, patients are asymptomatic. If PBG levels increase progressively, the pill should be stopped.

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