Acute intermittent porphyria

How is acute intermittent porphyria (AIP) diagnosed?

Diagnosis of AIP is suspected in individuals with otherwise unexplained severe, acute abdominal pain without physical signs. The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is present. If PBGD is deficient in normal red blod cells, the diagnosis of AIP is established. The diagnosis is confirmed in individuals with a disease-causing mutation in the HMBS gene, the only gene known to be associated with AIP, which encodes the erythrocyte hydroxymethylbilane synthase enzyme. Molecular genetic testing of the HMBS gene detects more than 98% of affected individuals and is available in clinical laboratories. To obtain a list of clinical laboratories offering genetic testing for AIP, click here.

Last updated on 05-01-20

How can I find a physician or researcher who is knowledgeable about acute intermittent porphyria?

Because porphyria is so rare, few physicians have experience treating patients with the disease. The American Porphyria Foundation (APF) can help individuals with porphyria by putting their doctor's office in touch with a porphyria specialist who can offer guidance on their care. Clinicians and researchers specializing in porphyria are available to consult on suspected or confirmed cases of porphyria, and to discuss the individual course of treatment. Some specialists can assist with diagnostic testing, and some are available for clinical consultation with patients. There is one telemedicine facility for porphyria consultation in the country, at the University of Texas-Medical branch, in Galveston. Patients and physicians interested in utilizing the services mentioned above may call the APF office at 713-266-9617 for information on contacting the specialist who can best address their concerns. More information about this service can be accessed by clicking here.

Additional researchers and physicians can be found through the Porphyrias Consortium. This resource includes five of the leading porphyria centers in the United States that provide expertise and experience in the diagnosis and treatment of patients with porphyria. The staff in each Center includes porphyria physicians, researchers, research coordinators, and technical/laboratory staff. Together with the American Porphyria Foundation, the Porphyrias Consortium enables a large scale collaborative effort to develop new strategies and methods for diagnosis, treatment, and prevention of illness and disability resulting from these rare disorders. For more information about the Porphyrias Consortium, click here.

Last updated on 05-01-20

Is it possible for an individual who has the disease-causing mutation for acute intermittent porphyria (AIP) to remain asymptomatic?

Some people who inherit the gene for AIP never develop symptoms and are said to have "latent" AIP.

Last updated on 05-01-20

Can asymptomatic individuals be tested for acute intermittent porphyria (AIP)?

Testing of at-risk asymptomatic adults for AIP is available using either assay of erythrocyte HMBS enzyme activity or, if the mutation is known in an affected family member, molecular genetic testing of the HMBS gene. Such testing is not useful in predicting whether individuals who inherit an HMBS mutation will be symptomatic, or if they are, the age of onset, severity, or type of symptoms. Before testing at-risk individuals for AIP, it is necessary to first test an affected family member to confirm that the disorder in the family is actually AIP.

Molecular genetic testing of the HMBS gene detects more than 98% of affected individuals and is available in clinical laboratories. To obtain a list of clinical laboratories offering genetic testing for AIP, click here.

Last updated on 05-01-20

How old must one be in order to be tested for acute intermittent porphyria (AIP)?

Although most testing is done in adults, there may be an advantage to testing at-risk asymptomatic individuals prior to puberty, as symptoms most often develop after this age. Identification of individuals at risk for AIP may alter management because avoidance of known risk factors may be helpful in preventing acute attacks and afford prompt treatment should an attack occur.

Last updated on 05-01-20

Can acute intermittent porphyria (AIP) be disabling?

Acute intermittent porphyria can be severe and debilitating. During an acute attack, AIP may affect the visceral (internal organ), peripheral (affecting the peripheral nerves - nerves to the hands and feet), autonomic, and central (brain and spinal cord) nervous systems, leading to a wide variety of symptoms which are usually intermittent and can be life-threatening. The course of an acute attack is highly variable within an individual as well as among individuals. Affected individuals may recover from acute attacks within days, but recovery from severe attacks that are not promptly recognized and treated may take weeks or months.

Last updated on 05-01-20

Name: American Porphyria Foundation 4915 St. Elmo Avenue Suite 105
Bethesda, MD, 20814, United States
Phone: +1-301-347-7166 Toll Free: 1-866-273-3635 Fax : +1-301-312-8719 Email: porphyrus@porphyriafoundation.com Url: https://porphyriafoundation.org/
Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: https://www.metabolicsupportuk.org/contact-us Url: https://www.metabolicsupportuk.org
Name: American Association for the Study of Liver Diseases 1001 North Fairfax, 4th floor
Alexandria, VA, 22314, United States
Phone: 703–299–9766 Fax : 703–299–9622 Email: aasld@aasld.org Url: http://www.aasld.org/
Name: American Liver Foundation 39 Broadway, Suite 2700
New York, NY, 10006, United States
Phone: +1-212-668-1000 Toll Free: +1-800-465-4837 (Helpline) Email: https://liverfoundation.org/for-patients/contact-us/ Url: https://liverfoundation.org/
Name: European Porphyria Network Email: contact@porphyria.eu Url: http://porphyria.eu/en/content/home

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