Friday, January 29, 2016

Lifestyle and home remedies & Prevention

Lifestyle and home remedies

By Mayo Clinic Staff
If you have porphyria:
  • 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.
Although there's no way to prevent porphyria, if you have the disease, these steps may help prevent symptoms:
  • 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.
  • Don't smoke.
  • 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.
                   "Remember....Research is the key to your cure!"

Wednesday, January 27, 2016

Meeting with the FDA March 7!! IMPORTANT

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.

"Remember....Research is the key to your cure!"

Tests and diagnosis & Treatments and drugs

Tests and diagnosis

By Mayo Clinic Staff
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.
If your doctor suspects porphyria, he or she may recommend these tests:
  • 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.
  • Stool sample test. Analysis of a stool sample may reveal elevated levels of some porphyrins that may not be detected in urine samples. This test may help your doctor determine your specific type of porphyria.
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.

    Treatments and drugs

    By Mayo Clinic Staff
    Treatment depends on the type of porphyria you have and is directed at relieving symptoms.

    Acute porphyrias

    Treatment of acute porphyrias focuses on providing rapid treatment of symptoms and preventing complications. This may require hospitalization in severe cases. Treatment may include:
    • Stopping medications that may have triggered symptoms
    • Medication to control pain, nausea and vomiting
    • Prompt treatment of infections or other illness that may have caused symptoms
    • Intravenous sugar (glucose) or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates
    • Intravenous fluids to combat dehydration
    • Injections of hemin, a medication that is a form of heme, to limit the body's production of porphyrin

    Cutaneous porphyrias

    Treatment of cutaneous porphyrias focuses on reducing exposure to sunlight and the amount of porphyrins in your body to help eliminate your symptoms. This may include:
    • 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.
  •                     "Remember....Research is the key to your cure!"

Monday, January 25, 2016

Preparing for your appointment

Preparing for your appointment

By Mayo Clinic Staff
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).
Here's some information to help you get ready, and what to expect from your doctor.

What you can do

Before your appointment, make a list of:
  • Any symptoms you're experiencing, including any that may seem unrelated to the reason for your appointment
  • Key personal information, including any major stresses or recent life changes
  • All medications, vitamins or other supplements that you're taking, including dosages
Preparing a list of questions before your appointment will help you make the most of your time. For porphyria, some basic questions to ask your doctor include:
  • What's the most likely cause of my symptoms?
  • What are other possible causes?
  • What kinds of tests do I need? Do I need genetic testing?
  • How severe is my condition?
  • What's the best course of action?
  • What are the alternatives to the primary approach that you're suggesting?
  • I have another health condition. How can I best manage these together?
  • Are there any dietary restrictions I need to follow?
  • What precautions do I need to take when spending time outdoors?
  • Do I need to be concerned about taking medications in the future?
  • Are there any brochures or other printed material that I can have? What websites do you recommend?
  • Should my family members be screened?
  • Will I need a medical alert bracelet?
Don't hesitate to ask any other questions during your appointment.

What to expect from your doctor

Your doctor is likely to ask you a number of questions, such as:
  • When did you first begin experiencing symptoms?
  • Have your symptoms been continuous or occasional?
  • How severe are your symptoms?
  • What, if anything, seems to improve your symptoms?
  • What, if anything, appears to worsen your symptoms?
  • Do any family members have similar symptoms?
                        "Remember....Research is the key to your cure!"

Friday, January 22, 2016

Risk Factors & Complications of All Porphyrias by Mayo Clinic

Risk factors

By Mayo Clinic Staff
In addition to genetic risks, environmental factors may trigger the development of signs and symptoms in some types of porphyria. When exposed to the trigger, your body's demand for heme production increases. This overwhelms the deficient enzyme, setting in motion a process that causes signs and symptoms. Examples of triggers include:
  • Certain drugs (barbiturates or sulfonamide antibiotics or, less often, birth control pills, or some drugs that affect the mind or behavior, known as psychoactive drugs)
  • Chemicals
  • Dieting or fasting
  • Smoking
  • Physical stress, such as infections or other illnesses
  • Liver disease
  • Emotional stress
  • Alcohol use
  • Menstrual hormones
  • Sun exposure
  • Excess iron in your body


By Mayo Clinic Staff
Possible complications of porphyria include:
  • 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.
                         "Remember....Research is the key to your cure!"

Wednesday, January 20, 2016

Causes & Gentics of Porphyria By Mayo Clinic

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.


Most forms of porphyria are inherited. Porphyria can occur if you inherit:
  • A defective gene from one of your parents (autosomal dominant pattern)
  • Defective genes from both parents (autosomal recessive pattern)
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.

                "Remember....Research is the key to your cure!"

Monday, January 18, 2016

Symptoms of each type of Porphyria from Mayo Clinic

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

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.
Possible signs and symptoms of acute porphyria include:
  • Severe abdominal pain
  • Swelling of the abdomen (abdominal distention)
  • Pain in your chest, legs or back
  • Constipation or diarrhea
  • Vomiting
  • Insomnia
  • Heartbeat you can feel (palpitations)
  • High blood pressure
  • Anxiety or restlessness
  • Seizures
  • Mental changes, such as confusion, hallucinations, disorientation or paranoia
  • Breathing problems
  • Muscle pain, tingling, numbness, weakness or paralysis
  • Red or brown urine

Cutaneous porphyrias

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.
As a result of sun exposure, you may experience:
  • Sensitivity to the sun and sometimes artificial light, causing burning pain
  • Sudden painful skin redness (erythema) and swelling (edema)
  • Blisters that take weeks to heal
  • Itching
  • Fragile skin
  • Scars or skin color changes from healing blisters
  • Increased hair growth
  • Red or brown urine

When to see a doctor

Many signs and symptoms of porphyria are similar to those of other, more common conditions. This can make it difficult to know if you're having an attack of porphyria. Any of the following symptoms should prompt you to seek immediate medical attention:
  • Severe abdominal pain, but sometimes pain in your chest, legs or back, accompanied by constipation, vomiting and sometimes diarrhea
  • Sensitivity to the sun and sometimes artificial light, causing burning pain and sudden painful skin blistering, redness (erythema) and swelling (edema)
  • Red or brown urine
                   "Remember....Research is the key to your cure!"

Thursday, January 14, 2016

Save the Date for the Patient Educational Meeting

Save the Date for the Patient Educational Meeting

You are invited to a patient educational meeting in Houston, TX.
* Presentations by World Renowned Porphyria Experts.
* Meeting with the APF's Executive Director  Desiree Lyon
* 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.
Date and Time:  Monday, March 14, 2016,  6:30 PM CT, Houston, TX
You are welcome to bring family members and friends. Please RSVP:  1.866.APF.3635  or  Email:

"Remember....Research is the key to your cure!"

Wednesday, January 6, 2016

10 Ways to Stay Positive When You’re Sick

10 Ways to Stay Positive When You’re Sick

Its bound to happen with the holidays, travel, family food and friends.  We get sick bad and cold weather out, gotta go to work, take care of the family, but what about me?  How do I take care of myself?  Here are some great tips.
Holly’s great post on “Feel Better Day” reminded me how it’s so easy when we’re ill–either from a passing cold or a long-term disease–to slip into the emotional dumps. But it’s not necessary to feel blue while your body is healing. In fact, many studies show that the brighter your mood the faster you mend. As someone who has had four colds this season, gets migraines sometimes, and has survived a bout of cancer and chemo, I’ve come up with ways to stay up when my body’s down. Hopefully you’ll find them helpful too.
1)      Remember: Your Body Is Sick, Not Your Brain. I’m all for deepening the mind-body connection, but I find it’s crucial to let the stronger one lead the dance. I remind myself that I’m not required to feel sad just because I’m sick and delineate a happy divide between physical aches and pains and emotional ones. You can be in pain and not suffer–or at least not add to the external suffering with a “poor me” monologue in your head. My fourth grade teacher Betsy blew my mind when I hurt my finger one day and she told me to “Try and feel into the pain. Feel it all the way, so much so that you can’t feel the pain.” It was bizarre, but it worked. And changed my life. It’s a very Buddhist way of leaning into reality, and I’ve found it enormously helpful when I feel like my whole body is made of hurt fingers.
2)      Take Sensory Care. The normal defenses a well person has against visual, auditory, olfactory, and other kinds of clutter are pretty defeated when you’re sick. Your energies are consumed with getting better, not filtering out. This makes it all the more important to be in a tidy, clean space that smells pleasant (or at least clean), sounds peaceful, and looks nice. Even if you can’t control all of those things, do what you can with your immediate little sick nest–toss the tissues, make the bed (even if you’re in it), put the dishes away, wipe the table down, etc.
3)      Ask Yourself: Does This Have Good Energy? It’s not about a value judgment, but it usually works out that some things bring us up and other things bring us down. Years ago I came back from months at a yoga retreat and ended up giving away half my books–I looked at each one and asked myself, Positive or negative? When you’re sick, your energy is already low, and you don’t have energy to waste on artificially “cheering up.” So make sure that the DVDs, TV shows, books, magazines, people, and anything else you encounter brings you up more than down. For example, no “CSI: Special Victims’ Unit” marathons until you’re better (or maybe never?).
4)      Eat Clean Food. In addition to boosting your recovery with nutrition, eating well while you’re sick will ensure you don’t have the added “food guilt” mood baggage of pigging out while not exercising. In other words, go for the comfort–soup, pasta, cereal–but not the bacchanal: Save the Haagen Dazs pint and Krispy Kremes for another day.
5)      Drink Plenty of Fresh Water. It will not only hydrate you and flush what needs flushing and keep your cells in optimal fighting shape, it will help your brain counteract negativity. Our moods are very dependent on proper hydration and it’s easy to forget to drink when you’re in nap-and-mope mode. But it’s physically essential and emotionally nurturing. When I was in chemo they had me drinking obscene amounts of water and it not only kept me less toxic but helped me feel more in the flow and connected to a natural, healing element.
6)      Look at Beautiful Things. Just yesterday I was in the park–my first emergence after the latest cold/flu/fever thing–and the first cherry blossoms were blasting off their whites and pinks. It really hit me how soft flowers make me feel inside. They’re like a soothing visual massage, so gentle when we allow their beauty to permeate our being. Make sure you have a couple of beautiful things nearby when you’re ill–be it a bouquet of fresh flowers, your fluffy kitty, or a picture of a gorgeous place that makes you happy.
7)      Bathe Daily. The dirty (har) secret of sick days is that most people think, “Well, I’m sick, I’m not going anywhere, no need to bathe.” But even if you’re just going to roll back into bed, first roll into the shower. Use your favorite soaps and potions, visualize the water rinsing the sick off of you. The skin’s cells actually release little endorphins upon contact with warm liquid. Let those give you a boost, plus you’ll come out feeling much more shiny and new–if still snuffly and achy.
8)      Change Your Clothes Every Day, and Make ‘Em Pretty. Again, even if it’s just your sheets looking at you all day, you’ll feel 100 times better in a fresh pair of jammies. I’ve also recently either mended or tossed my “loungewear”–no matter how beloved–with rips, stains, and other signs of run down disrepair. It’s amazing how I can identify less as a sick person when I’m in clean, attractive clothes, and more as a person getting well or just relaxing. A good trick for the brain.
9)      Don’t Isolate. It’s especially easy for those who live alone to disconnect from the outside world when they’re sick. Do your best not to let that happen. Call or email friends and let them know you’re not feeling well; they’ll check in on you. Open to receiving their love while you’re at it–don’t automatically turn down offers of soup and juice and company. Let yourself be nurtured, it will help along the healing process.
10)   Laugh. Ok, it’s the most annoying part of “The Secret” movie and book to me, but there’s a grain of truth in it. A woman says she’s healed her breast cancer by watching funny movies.  And though I think that’s a wildly dangerous and irresponsible thing to say to a mass audience, laughter does release happy chemicals into our bloodstream, it uplifts our spirits, it gives us a reason to live, something to look forward to. So much of getting well is about imbibing joy into our minds and our cells. Our bodies may or may not take the hint, but it certainly can’t hurt to give it something to work with.

                   "Remember....Research is the key to your cure!"

Tuesday, January 5, 2016

DNA testing for Porphyria

DNA testing for Porphyria

Rose Window — DNA cross-sectionThe 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 ( or 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.

Saturday, January 2, 2016

Recordati Rare Diseases who are they and how do they help Acute Porphyrias


Recordati Rare Diseases, the group’s American subsidiary offers a portfolio of products for the treatment
of a number of rare diseases as from 2013. Also in the U.S.A. the organization works closely with specialists,
healthcare professionals, patients’ families and patient groups to meet the needs of people affected by these diseases and to spread the scarce knowledge available. Recordati’s commitment to making its
products available to patients suffering from rare diseases was recognized by the National Organization for Rare Disorders (NORD) in the U.S.A. with its 2011 “Corporate Award”. This important award was granted in recognition of the introduction into the United States of Carbaglu®, the first specific treatment approved by the FDA (Food and Drug Administration) for NAGS deficiency, a very rare inherited metabolic disease.


The acquisition and diffusion of specific scientific knowledge is fundamental for the identification of a rare disease and is of great importance in the research for new therapies. Recordati is committed to support families suffering from the impact of a rare disease both through the research and development of new treatments as well as through the diffusion of knowledge within the scientific community.

Working in the field of rare diseases is an important responsibility to patients and healthcare professionals and we put this at the heart of our strategy. The Academy was launched to provide unconditional grants for training in rare disease. High-level courses are created under the authority of a scientific committee. The overall aim is to share experience in the management and outcome of rare disorders where individual experience is by its nature limited. The Academy offers specialists the opportunity to enrich their knowledge, develop new ideas and establish scientific relationships. Four live events are held each year bringing together clinicians and scientists from all over the world to discuss innovations and new diagnostic and management strategies. The Academy also provides online e-learning courses which aim to provide physicians, world-wide, with clinically useful and the most up-to-date information concerning current knowledge and recommendations for care. 

"Remember....Research is the key to your cure!"

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhoo...