Learn what could trigger symptoms. Talk to your doctor about the type of porphyria you have and become familiar with possible symptom triggers and ways to avoid them.
Inform your health care providers. Tell all your health care providers that you have porphyria. This is particularly important because sometimes treatments, medications or surgery can trigger porphyria symptoms.
Wear a medical alert bracelet or necklace. Have information about your condition inscribed on a medical alert bracelet or necklace, and always wear it.
Avoid medications known to trigger acute attacks. Ask your doctor for a list of safe and unsafe drugs.
Don't use alcohol or illegal drugs.
Avoid fasting and dieting that involves severe calorie restriction.
Minimize sun exposure. When you're outdoors, wear protective clothing and use a broad-spectrum sunscreen with a high sun protection factor (SPF).
Treat infections and other illnesses promptly.
Take steps to reduce emotional stress.
Because porphyria is an inherited disorder, your siblings and other family members may want to consider genetic testing to determine if they have the disease.
Meeting with the FDA March 7!!
The APF is meeting with the FDA on March 7, 2016 to discuss the ACUTE PORPHYRIAS (AIP, HCP, VP). We ask that you and your family members please join us at this meeting to share your story and your needs.
This is a very difficult meeting to gain. Please come help us explain the patient needs, problems and difficulties. Note this is not the EPP meeting we are trying to schedule but an acute porphyria meeting.
Please contact the APF if you need any further information or assistance.
Many signs and symptoms of porphyria are similar to those of other more common diseases. Also, because porphyria is rare, it can be more difficult to diagnosis. Lab tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have.
Urine test. If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances: porphobilinogen (por-foe-bih-LIN-uh-jen) and delta-aminolevulinic (uh-me-no-lev-yoo-LIN-ik) acids, as well as other porphyrins.
Blood test. If you have a form of cutaneous porphyria, a blood test may show an elevation in the level of porphyrins in your blood plasma.
More tests may be needed to confirm the type of porphyria you have. Genetic testing may be suggested in the family of a person with porphyria.
Treatment depends on the type of porphyria you have and is directed at relieving symptoms.
Drawing blood (phlebotomy). Drawing a certain amount of blood from one of your veins reduces the iron in your body, which decreases porphyrins. You may need to have a phlebotomy repeated at regular intervals before cutaneous porphyria goes into remission.
Medication. Drugs used to treat malaria — hydroxychloroquine (Plaquenil) or, less often, chloroquine (Aralen) — can absorb excess porphyrins and help your body get rid of them more quickly than usual. These medications are generally used only in people who can't tolerate a phlebotomy.
Beta carotene. Long-term treatment of cutaneous porphyrias may include daily doses of prescription beta carotene. Beta carotene may increase your skin's tolerance to sunlight. Your doctor can tell you what kind of beta carotene will work best for porphyria photosensitivity.
Reducing or eliminating triggers. Triggers, such as certain medications or too much sunlight, which activated the disease, should be reduced or removed if possible, with guidance from your doctor.
Vitamin D. Supplements may be recommended to replace vitamin D deficiency caused by avoidance of sunlight.
If you have signs and symptoms of porphyria, you're likely to start by seeing your primary care provider. However, because porphyria can be difficult to diagnose, you may be referred to a doctor who specializes in blood disorders (hematologist).
What kinds of tests do I need? Do I need genetic testing?
I have another health condition. How can I best manage these together?
What precautions do I need to take when spending time outdoors?
Do I need to be concerned about taking medications in the future?
Should my family members be screened?
Will I need a medical alert bracelet?
Do any family members have similar symptoms?
Dehydration. Vomiting due to an attack of acute porphyria can lead to dehydration, which may require that you receive fluids through a vein (intravenously).
Breathing difficulties. Acute porphyrias can cause muscle weakness and paralysis, which can cause breathing problems. If left untreated, they can also lead to respiratory failure.
Low sodium in your blood. Called hyponatremia, this is usually linked to problems with sodium and water handling in your body.
High blood pressure. Porphyrin buildup can damage your kidneys and may result in high blood pressure (hypertension).
Chronic kidney failure. Porphyrin buildup may cause your kidneys to gradually lose their ability to function.
Liver damage. Some forms of porphyria cause excessive porphyrins in your liver, which may lead to severe liver damage that can eventually require a liver transplant.
Permanent skin damage. When your skin heals after cutaneous porphyria, it may have an abnormal appearance and coloring. Scars may remain on your skin as well, and lasting skin problems may cause your hair to fall out.
Porphyria is most often an inherited mutation in one of the genes involved in heme production, although environmental factors can trigger symptoms in some cases.
Heme is a major component of hemoglobin, the protein in red blood cells that carries oxygen from your lungs to all parts of your body. Heme also plays a role in breaking down chemicals so they can be removed from your body. Heme is made mainly in the bone marrow and liver through the production of porphyrin and linkage with iron.
Eight different enzymes add and convert natural, smaller building blocks into porphyrin, which becomes heme with the addition of iron. Deficiency of a specific enzyme that's involved in the body's process for making heme can result in the buildup of porphyrins, causing symptoms. Each type of porphyria is due to the deficiency of a different enzyme.
Just because you have inherited a gene or genes that can cause porphyria doesn't mean that you'll have signs and symptoms. You might have what's called latent porphyria, and never have symptoms. This is the case for most carriers of the abnormal genes.
There are two general categories of porphyria — acute, which mainly affects the nervous system, and cutaneous, which mainly affects the skin. Some types of porphyria have both nervous system symptoms and skin symptoms, and others have mainly one or the other.
Acute porphyrias include forms of the disease that typically cause nervous system symptoms, which appear quickly and can be life-threatening. Acute porphyria attacks are rare before puberty and after menopause in women. Symptoms may last one to two weeks and usually improve slowly after the attack.
Cutaneous porphyrias include forms of the disease that cause skin symptoms as a result of oversensitivity to sunlight, but these forms don't usually affect your nervous system. Attacks may last for several days. With some forms, signs and symptoms may start during infancy or childhood.
You are invited to a patient educational meeting in Houston, TX.
* Presentations by World Renowned Porphyria Experts.
* Opportunity to Participate in a Q & A Session.
* Meet Friends who Share Your Experiences with Porphyria.
* View the Latest Educational Material from the American Porphyria Foundation.
The Mount Sinai Genetic Testing Laboratory in New York City is proud to announce availability of DNA testing forseven porphyrias, including Acute intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), familial Porphyria Cutanea Tarda (f-PCT), Hepatoerythropoietic Porphyria (HEP), Erythropoietic Protoporphyria (EPP) and Congenital Erythropoietc Porphyria (CEP). This is the only laboratory in the United States that offers DNA testing for all of these porphyrias. The testing program was developed with a grant from the American Porphyria Foundation. We thank the Porphyria patients who sent us their blood to develop and validate these tests.
Before requesting DNA testing, it is recommended that patients have biochemical testing (urinary, stool and/or plasma porphyrins and porphyrin precursors (ALA and PBG) and/or enzyme assays). However, many patients have not had an acute attack or are not symptomatic at present, so biochemical testing may be inconclusive.
In contrast, DNA testing is the most accurate and reliable method for determining if a person has a specific porphyria and is considered the "gold standard" for the diagnosis of genetic disorders. If a mutation (or change) in the DNA sequence is found in a specific Porphyria-causing gene, the diagnosis of that Porphyria is confirmed. DNA analysis will detect more than 97% of known disease-causing mutations. DNA testing can be performed whether the patient is symptomatic or not and requires only a small amount of blood sent to the laboratory at room temperature. Once a mutation has been identified, DNA analysis can then be performed on other family members to determine if they have inherited that Porphyria, thus allowing identification of individuals who can be counseled about appropriate management in order to avoid or minimize disease complications.
It is important for patients to realize the limitations of DNA testing. Each porphyria is caused by a mutation in the DNA sequence of a specific gene. Thus, the diagnosis of a specific porphyria determines what gene to test. Diagnosis of the specific porphyria can be difficult because the three acute porphyrias (AIP, HCP, VP) typically have similar acute symptoms, biochemical findings, and responses to treatment. This means, for example, that if a patient has been given the diagnosis of AIP and no AIP gene mutation is identified, it is possible that the patient has a different acute Porphyria. For patients with symptoms of an acute porphyria, but without a specific diagnosis, we offer a "triple test," which includes DNA testing for the three major acute porphyrias (AIP, HCP, and VP).
DNA testing involves sophisticated DNA sequencing which is multi-procedural, labor intensive, and expensive. In the porphyrias, there are no common mutations so the entire gene must be sequenced in each new family.
The cost for DNA testing for one specific porphyria is $802 to $922, depending on the specific porphyria being tested. Once a mutation is identified, the cost for DNA testing of other family members is $226 per person. For patients with symptoms of an acute porphyria, but whose specific porphyria has not been identified, the “Acute Porphyrias Panel” for analysis of the genes causing the three acute porphyrias can be performed for $1882, a savings of $700 over sequencing each gene separately. Results from DNA testing are typically available in 2 to 4 weeks.
The Mount Sinai Genetic Testing Laboratory, Porphyria DNA Testing Laboratory accepts some insurance; please contact the genetic counselor at the laboratory for current information. Alternatively, payment can be made by credit card or check, which must accompany the patient's blood sample. A receipt will be provided, but depending on the patient's insurance company and policy, the reimbursement will vary and some companies will not pay for Porphyria testing at all. By New York State regulation, DNA testing for any genetic disorder must be ordered by a physician who also must sign the requisition form and who will receive the results. A patient must also read and sign a consent form which explains DNA testing and offers counseling.
Please contact the genetic counselor, Dana Doheny, MS, CGC, by email (porphyria@mssm.edu or dana.doheny@mssm.edu) or telephone (212-659-6779, direct-line; 866-322-7963, toll-free) for the required forms (including sample requirements, shipping instructions, test requisition, and consent form), to arrange for testing, and/or for additional information.
The Mount Sinai Genetic Testing Laboratory, Porphyria DNA Testing Laboratory, Department of Genetics & Genomic Sciences, The Mount Sinai School of Medicine, 1425 Madison Avenue, Room 14-74, Box 1498, New York City, NY 10029-6574.