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):||28 July 2012|
|PDF File Size:||17.27 Mb|
|ePub File Size:||13.77 Mb|
|Price:||Free* [*Free Regsitration Required]|
The autosomal dominant acute porphyrias [acute intermittent porphyria AIPvariegate porphyria VP porgiria hereditary coproporphyria HCP ] are characterised by episodic acute neurovisceral attacks which may be life threatening. Diagnostic criteria Screening families for HCP.
A few other countries have also initiated screening. A Diagnostic Challenge porfiris Endocrinologist. 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.
Very large quantities may be required in a severe acute attack.
They usually present in early childhood and most are clinically more severe than their heterozygous ihtermittant. GeneReviews is a registered trademark of the University of Washington, Seattle. AIP is the commonest of the acute porphyrias. Molecular Genetic Testing Gene. To date, five children with homozygous HMBS pathogenic variants have been described. Iron overload is therefore a potential problem only in patients treated on numerous occasions.
A Purple Canary: Life with Acute Intermittent Porphyria
Prenatal diagnosis and preimplantation genetic diagnosis PGD for at-risk pregnancies require prior identification of the pathogenic variant in the family. References in periodicals archive? It is infused over at least 30 minutes. To establish the extent of disease and needs in an individual diagnosed with acute intermittent porphyria AIP the following evaluations are intermitgant.
Seminars in Liver Disease ; Severe porphyric neuropathy–importance of screening for porphyria in Guillain-Barre syndrome. The main exception is Sweden where the prevalence of AIP is high 1 per people in northern Sweden due to a founder effect. All the autosomal dominant porphyrias show low clinical penetrance.
Acute intermittent porphyria – Wikipedia
akug Very occasionally, the acute attack is accompanied by a severe adrenergic crisis with dangerous hypertension, encephalopathy, seizures and ischaemic changes on CT brain scanning. Plasma porphyrin concentration may occasionally be normal; fluorescence emission spectroscopy does not distinguish between HCP and AIP.
Psychosocial and other stresses, including intercurrent illnesses, infections, alcoholic excess, and surgery, can precipitate an attack. Attacks are often provoked by drugs, alcohol, endocrine factors, infection or calorie restriction and respond to treatment with human hemin preparations. It is appropriate to offer genetic counseling including discussion of potential risks intermiftant offspring and reproductive options to young adults who are affected or at risk.
Since acute attacks are usually short lived and infrequent, opiates may be used in high doses without fear of addiction. 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. The clinical intermittabt of AIP is highly variable and non-specific.
Treatment of the acute attack
If improvement is unsatisfactory or if additional and progressive neurologic features present, intravenous administration of hemin preparations is recommended. Seizures often accompany this disease. While most centers would consider decisions regarding prenatal testing to be the choice of the parents, discussion of these issues is appropriate. Evaluation of relatives at risk: Manage together with a porphyria specialist; treatment options include ovulation suppression with gonadorelin analogues, regular hematin infusions, or as a last resort liver transplantation.
The pain, which occasionally may be more severe in the back or thighs, usually requires opiate analgesia. See Management, Evaluation of Interimttant at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.
Once diluted, the heme becomes unstable and may aggregate if there is undue delay. Intravenous human hemin is the most effective treatment for acute neurovisceral attacks.
The most common identified triggers for acute attacks are medications, weight loss dietsand surgery. Diagnostic abnormalities are shown. Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion. Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals intermittanr in patients with acute pprfiria porphyria.
Most patients present soon after birth and have severe photosensitivity, erythrodontia and hemolytic anaemia.
When a woman with AIP experiences abdominal pain, hypertension, and tachycardia during pregnancy, complications of pregnancy should be excluded before the findings are attributed to an acute attack.
Bilateral axonal motor neuropathy may also involve the distal radial nerves [ King et al ]. Bone marrow transplantation is the only effective treatment. In most countries AIP is the most common of the acute hepatic porphyrias [ Anderson et alPuy et al ].
Mortality directly related to acute attacks is now very rare in most countries as a result of improved treatment use of human hemin and identification and counseling of presymptomatic relatives.
Diagnostic criteria Screening families for VP. Brain magnetic resonance imaging white-matter lesions and cerebrospinal fluid porfidia in patients with acute intermittent porphyria.
An analysis of acute porphyric attacks in Cape Town, South Africa: