Members & Followers

Monday, September 22, 2014

Fall Day Message




Have a beautiful First day of fall.  To all Porphyria Patients earth wide.

May you all stay healthy and happy.  Spend time with family and friends on these cool and crisp days.

If you have any questions about Porphyria please feel free to call the American Porphyria Foundation @ 1-866-APF-3635.

We have Doctor Kits and patients packets that we can send out.  Please have your Doctors name and full mailing address ready.  If you would like to receive a patient kit please have your full name and mailing address to.

If you like to know what research studies are out there and how you can participate in please contact the APF and ask for Natalia or Desiree @ 1-866-APF-3635.


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

Saturday, September 20, 2014

Porphyria- What it is and what it does by NIH

Porphyria

On this page:

What are porphyrias?

Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cells—red blood cells, white blood cells, and platelets.
The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.
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What is heme and what does it do?

Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that break down hormones, medications, and other chemicals and keep liver cells functioning normally. Heme is an important part of nearly every cell in the body.
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What are the types of porphyria?

Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences:
  • Acute porphyrias affect the nervous system. They occur rapidly and last only a short time.
  • Cutaneous porphyrias affect the skin.
Two types of acute porphyrias, hereditary coproporphyria and variegate porphyria, can also have cutaneous symptoms.
Experts also classify porphyrias as erythropoietic or hepatic:
  • In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow.
  • In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver.
Table 1 lists each type of porphyria, the deficient enzyme responsible for the disorder, and the main location of porphyrin buildup.
Table 1. Types of porphyria
Type of PorphyriaDeficient EnzymeMain Location of Porphyrin Buildup
 delta-aminolevulinate-dehydratase deficiency porphyria delta-aminolevulinic acid dehydratase liver
 acute intermittent porphyria porphobilinogen deaminase liver
 hereditary coproporphyria coproporphyrinogen oxidase liver
 variegate porphyria protoporphyrinogen oxidase liver
 congenital erythropoietic porphyria uroporphyrinogen III cosynthase bone marrow
 porphyria cutanea tarda uroporphyrinogen decarboxylase (~75% deficiency) liver
 hepatoerythropoietic porphyria uroporphyrinogen decarboxylase (~90% deficiency) bone marrow
 erythropoietic protoporphyria* ferrochelatase (~75% deficiency) bone marrow
*Protoporphyria XLPP is a variant of erythropoietic protoporphyria.
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How common is porphyria?

The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.1
1Pierach CA. Porphyrias. In: Bope and Kellerman, eds. Conn’s Current Therapy 2012. 1st ed. Philadelphia, PA: Saunders; 2011: 847–850.
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What causes porphyria?

Most porphyrias are inherited disorders. Scientists have identified genes for all eight enzymes in the heme biosynthetic pathway. Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent. Some porphyrias, such as congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and erythropoietic protoporphyria, occur when a person inherits two abnormal genes, one from each parent. The likeliness of a person passing the abnormal gene or genes to the next generation depends on the type of porphyria.
Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency. This type of porphyria can be triggered by
  • too much iron
  • use of alcohol or estrogen
  • smoking
  • chronic hepatitis C—a long-lasting liver disease that causes inflammation, or swelling, of the liver
  • HIV—the virus that causes AIDS
  • abnormal genes associated with hemochromatosis—the most common form of iron overload disease, which causes the body to absorb too much iron
For all types of porphyria, symptoms can be triggered by
  • use of alcohol
  • smoking
  • use of certain medications or hormones
  • exposure to sunlight
  • stress
  • dieting and fasting
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What are the symptoms of porphyria?

Some people with porphyria-causing gene mutations have latent porphyria, meaning they have no symptoms of the disorder. Symptoms of cutaneous porphyrias include
  • oversensitivity to sunlight
  • blisters on exposed areas of the skin
  • itching and swelling on exposed areas of the skin
Symptoms of acute porphyrias include
  • pain in the abdomen—the area between the chest and hips
  • pain in the chest, limbs, or back
  • nausea and vomiting
  • constipation—a condition in which an adult has fewer than three bowel movements a week or a child has fewer than two bowel movements a week, depending on the person
  • urinary retention—the inability to empty the bladder completely
  • confusion
  • hallucinations
  • seizures and muscle weakness
Symptoms of acute porphyrias can develop over hours or days and last for days or weeks. These symptoms can come and go over time, while symptoms of cutaneous porphyrias tend to be more continuous. Porphyria symptoms can vary widely in severity.
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How is porphyria diagnosed?

A health care provider diagnoses porphyria with blood, urine, and stool tests. These tests take place at a health care provider’s office or a commercial facility. A blood test involves drawing blood and sending the sample to a lab for analysis. For urine and stool tests, the patient collects a sample of urine or stool in a special container. A health care provider tests the samples in the office or sends them to a lab for analysis. High levels of porphyrins or porphyrin precursors in blood, urine, or stool indicate porphyria. A health care provider may also recommend DNA testing of a blood sample to look for known gene mutations that cause porphyrias.
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How is porphyria treated?

Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.

Acute Porphyrias

A health care provider treats acute porphyrias with heme or glucose loading to decrease the liver’s production of porphyrins and porphyrin precursors. A patient receives heme intravenously once a day for 4 days. Glucose loading involves giving a patient a glucose solution by mouth or intravenously. Heme is usually more effective and is the treatment of choice unless symptoms are mild. In rare instances, if symptoms are severe, a health care provider will recommend liver transplantation to treat acute porphyria. In liver transplantation, a surgeon removes a diseased or an injured liver and replaces it with a healthy, whole liver or a segment of a liver from another person, called a donor. A patient has liver transplantation surgery in a hospital under general anesthesia. Liver transplantation can cure liver failure. Read more in Liver Transplantation at www.digestive.niddk.nih.gov.

Cutaneous Porphyrias

The most important step a person can take to treat a cutaneous porphyria is to avoid sunlight as much as possible. Other cutaneous porphyrias are treated as follows:
  • Porphyria cutanea tarda. A health care provider treats porphyria cutanea tarda by removing factors that tend to activate the disease and by performing repeated therapeutic phlebotomies to reduce iron in the liver. Therapeutic phlebotomy is the removal of about a pint of blood from a vein in the arm. A technician performs the procedure at a blood donation center, such as a hospital, clinic, or bloodmobile. A patient does not require anesthesia. Another treatment approach is low-dose hydroxychloroquine tablets to reduce porphyrins in the liver.
  • Erythropoietic protoporphyria. People with erythropoietic protoporphyria may be given beta-carotene or cysteine to improve sunlight tolerance, though these medications do not lower porphyrin levels. Experts recommend hepatitis A and B vaccines and avoiding alcohol to prevent protoporphyric liver failure. A health care provider may use liver transplantation or a combination of medications to treat people who develop liver failure. Unfortunately, liver transplantation does not correct the primary defect, which is the continuous overproduction of protoporphyria by bone marrow. Successful bone marrow transplantations may successfully cure erythropoietic protoporphyria. A health care provider only considers bone marrow transplantation if the disease is severe and leading to secondary liver disease.
  • Congenital erythropoietic porphyria and hepatoerythropoietic porphyria. People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria may need surgery to remove the spleen or blood transfusions to treat anemia. A surgeon removes the spleen in a hospital, and a patient receives general anesthesia. With a blood transfusion, a patient receives blood through an intravenous (IV) line inserted into a vein. A technician performs the procedure at a blood donation center, and a patient does not need anesthesia.

Secondary Porphyrinurias

Conditions called secondary porphyrinurias, such as disorders of the liver and bone marrow, as well as a number of drugs, chemicals, and toxins are often mistaken for porphyria because they lead to mild or moderate increases in porphyrin levels in the urine. Only high—not mild or moderate—levels of porphyrin or porphyrin precursors lead to a diagnosis of porphyria.
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Eating, Diet, and Nutrition

People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes.2 People should avoid limiting intake of carbohydrates and calories, even for short periods of time, as this type of dieting or fasting can trigger symptoms. People with an acute porphyria who want to lose weight should talk with their health care providers about diets they can follow to lose weight gradually.
People undergoing therapeutic phlebotomies should drink plenty of milk, water, or juice before and after each procedure.
A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.
2National Research Council. Dietary Reference Intakes for Energy, Carbohydrate, Fiber, Fat, Fatty Acids, Cholesterol, Protein, and Amino Acids (Macronutrients). Washington, D.C.: The National Academies Press; 2005.
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Points to Remember

  • Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain.
  • Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway.
  • The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.
  • Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent.
  • Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency.
  • Symptoms of cutaneous porphyrias include
    • oversensitivity to sunlight
    • blisters on exposed areas of the skin
    • itching and swelling on exposed areas of the skin
  • Symptoms of acute porphyrias include
    • pain in the abdomen
    • pain in the chest, limbs, or back
    • nausea and vomiting
    • constipation
    • urinary retention
    • confusion
    • hallucinations
    • seizures and muscle weakness
  • A health care provider diagnoses porphyria with blood, urine, and stool tests.
  • Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.
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Hope through Research

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) conducts and supports research to help people with digestive diseases, including disorders that affect the liver.
Clinical trials are research studies involving people. Clinical trials look at safe and effective new ways to prevent, detect, or treat disease. Researchers also use clinical trials to look at other aspects of care, such as improving the quality of life for people with chronic illnesses. To learn more about clinical trials, why they matter, and how to participate, visit the NIH Clinical Research Trials and You website at www.nih.gov/health/clinicaltrials. For information about current studies, visit www.ClinicalTrials.gov.
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For More Information

For more information about porphyria, see the following online publications:
Learning about Porphyria, available from the National Human Genome Research Institute at www.genome.gov/19016728.
Porphyria, available from the U.S. National Library of Medicine’s Genetics Home Reference at www.ghr.nlm.nih.gov/condition=porphyria.
Information about porphyria is also available from the following organizations:



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

Wednesday, September 17, 2014

Be a Medical Hero!

Be a Medical Hero!

We invite you to be an important part of a 7201: Longitudinal Study of the Porphyrias. Being a part of the study is an extremely easy process. All what is needed from you is a little of your blood and answering a questionnaire. It is easy, but very important for porphyria researchers. By you answering the questions, researchers will be able to get a greater understanding of your type of porphyria, the pain, the unset of attack and the problem with diagnosis.  Your participation is needed; we don't have enough patients. Please call the APF 713.266.9617 and sign up today!


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

Monday, September 15, 2014

You are invited to a Patient Education Meeting




You are invited to a Patient Education Meeting

Sunday September 28th4:30-6:30 pm 
6 Mistflower Lane 
Santa Rosa Beach, Fl. 32459 
My home, All are welcome!!

Santa Rosa Beach is between Destin and Panama City in a community called Watercolor, Next to Seaside.

RSVP to me: lyonapf@aol.com


Desiree Lyon Howe
Executive Director of the APF


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

Wednesday, September 10, 2014

My Story with AIP

This is my story about AIP I hope that you enjoy listening and learning.  It is so important to find out clear and accurate information.  
The American Porphyria Foundation can do just that.

If you need any help with locating a Doctor, you have a concern or need to be tested or see a Porphyria Expert in your area please contact them at 1-866-APF-3635.

To read more information about each type of Porphyria and treatment types:  porphyriafoundation.com

There are many opportunities to be apart of the research programs so please call the APF.  Would you like to have a cure soon, I know I would, so please get involved there are so many ways.  If you would like to participate in holding a fundraiser please email me Amy.APF@gmail.com with your ideas...we have some great ideas coming in so please join us..

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

Monday, September 8, 2014

A Day In My SHOES!


A day in my shoes would do some people some good, 
A day in my shoes would make my efforts understood, 
A day in my shoes would make people understand, 
What's it's like to be me, 
What it's like not having people 
Who are different from you giving you a hand, 
A day in my shoes would make you aware, 
That people like me surely do care, 
The insults are hurtful, 
The name calling isn't nice, 
I never do anything wrong, 
And still I pay the price, 
If you spent just one day in my shoes, 
You would surely feel the way I do, 
\You'd feel hated and surely misunderstood, 
I know you can never really have a day in my shoes, 
All it is, is impossible, 
But you can still think about how it would you make me feel, 
When I'm made fun of it's not a game, 
It's the real deal. 



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

Thursday, September 4, 2014

Important Update About a Patient Education Meeting in Boston

Important Update About a Patient Education Meeting in Boston
As you know, American Association for the Study of Liver Diseases (AASLD) will host their annual meeting in Boston Nov 7-11, 2014 at the Hynes Convention Center. We invite you to participate in a patient education meeting. The meeting will be held at the Carrie Hall at the Brigham and Women's Hospital on November 9 from 3 to 6 pm.
This meeting provides an excellent opportunity for you to speak to the experts and to meet fellow-patients. Please let us know if you would like to participate.
We also are looking for volunteers to help man the booth.  You will be meeting with the physician attendees, handing out educational literature, and sharing your porphyria experience with the doctors who come to the APF exhibit booth. If you live in the Boston area and are willing to assist us by manning the exhibit booth, please contact the APF: 713.857.0995 or email us at natalia@porphyriafoundation.org.

Rare Disease Briefing in Washington DC
Rare Disease Legislative Advocates in coordination with Rare Disease Congressional Caucus Co-Chairs Representatives Leonard Lance and Joe Crowley, will host a briefing on Implementation of the Rare Disease Provisions in the Food & Drug Administration Safety and Innovation Act of 2012 (FDASIA) PL 112-144.
Wednesday, September 17, 2014
12:00 noon - 1:30 pm
Rayburn House Office Building, Room: B-318
Lunch Provided by event sponsors Amicus & Shire
If you would like to attend and represent the APF, please get registered:http://www.congressplus.com/events/index.cfm?action=Registration_Form&eventcode=73ic0A&bypass=true


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