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Showing posts from January, 2016

Lifestyle and home remedies & Prevention

Lifestyle and home remediesBy 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. PreventionBy Mayo Clinic Staff 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…

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 diagnosisBy 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 need…

Preparing for your appointment

Preparing for your appointmentBy 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 appointmentKey personal information, including any major stresses or recent life changesAll 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 nee…

Risk Factors & Complications of All Porphyrias by Mayo Clinic

Risk factorsBy Mayo Clinic Staff Multimedia Autosomal dominant inheritance pattern Autosomal recessive inheritance pattern 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)ChemicalsDieting or fastingSmokingPhysical stress, such as infections or other illnessesLiver diseaseEmotional stressAlcohol useMenstrual hormonesSun exposureExcess iron in your body ComplicationsBy 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 …

Causes & Gentics of Porphyria By Mayo Clinic

CausesBy Mayo Clinic Staff 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. Genetics Most forms of porphyria are inherited. Porphyria can occur if you inherit: A defective gene from one of your p…

Symptoms of each type of Porphyria from Mayo Clinic

SymptomsBy Mayo Clinic Staff 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 painSwelling of the abdomen (abdominal distention)Pain in your chest, legs or backConstipation or diarrheaVomitingInsomniaHeartbeat you can feel (palpitations)High blood pressureAnxiety or restlessnessSeizuresMental changes, such as confusion, hallucinations, disorientation or paranoiaBreathing problemsMuscle pain, tin…

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!"

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 …

DNA testing for Porphyria

DNA testing for PorphyriaThe 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 t…

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 s…