Management & Treatment
Identify potential triggers
Through patient education and identification of precipitating factors, future attacks may be avoided. However, attacks may occur even in the apparent absence of exogenous precipitating factors.3
- Potential porphyrinogenic agents, illicit drugs including cocaine and amphetamines, and alcohol have been associated with more frequent attacks.2
- Cigarette smoking is associated with more frequent attacks.1
- Crash diets, fasting, or other severe caloric or carbohydrate restriction have all been linked with attacks.1
- Many prescription drugs have been associated with an increase and exacerbation of AIP attacks.1 Drug lists and information on their use in these patients are available on various websites. These lists may not be inclusive and are derived from multiple publications and clinical data and may not be listed in cautionary statements on local labeling.
- Endogenous hormones are important exacerbating factors, which may partially explain why attacks are more common in women and during the luteal phase of the menstrual cycle.1
Treatment of acute attacks5
Acute attacks associated with AIP require treatment of signs and symptoms and disease-specific therapy to restore heme homeostasis.
Manage signs and symptoms1,9
- Many drugs which increase the demand for hepatic heme (particularly for cytochrome P450 enzymes) and induce ALA synthase may be exacerbating factors and should be avoided. For other drugs, there is insufficient information for classification as safe or unsafe.
- Recognize that some treatments commonly used for signs and symptoms of AIP may be linked to exacerbating attacks and should be avoided.
- Hospitilization may be required to control acute symptoms.5
- Provide nutritional support, generally intravenously. Carbohydrate loading may provide nutritional replacement and may have some repressive effect on hepatic ALA synthase.
- Monitor for electrolyte imbalances, acute psychiatric manifestations, muscle weakness, bladder distention, and ileus
Consider Panhematin (hemin for injection)9
- Panhematin should only be used by physicians experienced in the management of porphyrias in hospitals where the recommended clinical and laboratory diagnostic and monitoring techniques are available
- Panhematin therapy should be considered after an appropriate period of alternate therapy (i.e., 400 g glucose/day for 1 to 2 days)
- Panhematin is contraindicated in patients with known hypersensitivity to the drug
- Heme acts to limit the hepatic and/or marrow synthesis of porphyrin. This action is likely due to the inhibition of δ-aminolevulinic acid synthetase, the enzyme which limits the rate of the porphyrin/heme biosynthetic pathway.
- The exact mechanism by which hematin produces symptomatic improvement in patients with acute episodes of the hepatic porphyrias has not been elucidated
- Panhematin therapy for the acute porphyrias is not curative. After discontinuation of Panhematin treatment, symptoms generally return although in some cases remission is prolonged.
Learn about Panhematin (hemin for injection)
Consider testing family members1
Enzymatic and DNA testing may be appropriate for screening asymptomatic family members once an index case has been identified.
- Erythrocyte PBG deaminase assay may be useful, but normal activity does not exclude AIP
- DNA studies can identify the disease-causing mutation(s) in the defective gene
- Individuals with latent AIP may be counseled about the need to avoid factors associated with acute attacks