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Acute Hepatic Porphyria Understanding Porphyria

PORPHYRIA Understanding PorphyriaPorphyria is a family of rare, genetic diseases characterized by potentially life-threatening attacks and, for some patients, chronic debilitating symptoms that negatively impact daily functioning and quality of life. Porphyria includes eight subtypes, and each has unique manifestations, making an accurate diagnosis even more challenging. Four of these subtypes, a family of diseases referred to as acute hepatic porphyria (AHP), result from a genetic defect leading to deficiency in one of the enzymes of the heme biosynthesis pathway in the liver: acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficiency porphyria (ADP). In the United States and Europe, approximately 5,000 people experience one or more attacks annually, and approximately 1,000 people suffer frequent and severe attacks. Common treatment approaches for AHP include carbohydrate loading, intravenous (IV) glucose, and IV hemin, which ca…
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A proposed regulation would add a new layer of scrutiny to disability claims. By Arthur Delaney

Sharon who suffers from VP in the USA brought this article to the attention of many porphyria patients here in the US.  It caught my attention to. So without further delay here is that entire article:

A proposed regulation would add a new layer of scrutiny to disability claims.
By Arthur Delaney Some Americans could lose Social Security Disability Insurance benefits under a recent Trump administration proposal ― a change that could affect thousands of people but that has received little attention since it was first floated in November.  Under the proposed change, the government would look more closely at whether certain disability insurance recipients still qualify as “disabled” after they’ve already been awarded those benefits. While recipients already have to demonstrate

American Porphyria Announcements

Dear Members
of the APF,

Welcoming in 2020.  Are you ready to face new challenges with your Porphyria?  Need assistance in learning and understanding what to say to your treating physician.  No matter where you live be prepared.  The APF will send you a free patient packet, brochures on your type of porphyria and we can send your physician a comprehensive Dr. Kit.  The best part is that it is free.  Click on the link below to order your free brochures today.

To order: https://www.porphyriafoundation.org/apf-store/#!/Materials/c/35408354/offset=0&sort=normal

Now if you have planned for 2020 to raise awareness you need to check out the merchandise from the APF Store.  Follow this link and place your order today.  100% of all purchases go directly back to the APF!  So lets go shopping....

https://www.porphyriafoundation.org/apf-store/#!/Apparel-and-Merchandise/c/29641085/offset=0&sort=normal

Clara Hauke Personal Journey with EPP

Clara Hauke Type of PorphyriaErythropoietic Protoporphyria (EPP) I’m 18 years old and have experienced pain after staying in the sun since I was about 2 years old. When I was 2, I was outside and all of the sudden I started crying. Nobody knew why and my parents asked themselves whether or not I was pretending. Slowly they figured it had to do with the sun. We tried so many things and we went from doctor to doctor, but nobody had a clue what exactly my problem was. Several times my eyes were so swollen I couldn’t see anything. In the summer it was horrible. At night I couldn’t sleep, I itched myself until I was bloody – awake or sleeping. The only solution for me was to protect myself and to stay out of the sun. But I didn’t want to be different from my friends and I didn’t want to be a burden for my family. So I often crossed the border, to make it possible for my family to take me with them. When I was about six or seven, I met a doctor by chance, who guessed what my problem was. She…

Diagnosis of the Porphyrias

Diagnosis of the Porphyrias First-line Testing for the Acute Porphyrias Table 1. First-line Testing for Patients in Whom Acute Porphyria is Suspected Symptoms Test Laboratories Acute attacks of severe abdominal pain, nausea, vomiting, rapid heartbeat and other symptoms. Spot or 24 hour urine delta-aminolevulinic acid (ALA) and porphobilinogen (PBG)* UTMB, ARUP, Mount Sinai**, Mayo, Quest, LabCorp Blistering skin photosensitivity (with or without acute attack symptoms) Plasma total porphyrins UTMB, ARUP, Mayo, Quest, LabCorp *Take sample when symptoms are present Acute porphyrias An acute porphyria should be suspected if patient presents with neurolvisceral signs and symptoms. The first-line screening test is measurement of urinary porphobilinogen (PBG). PBG is markedly increased in all patients during acute porphyria attacks and not markedly elevated in other medical conditions that can present with similar symptoms. Therefore, this test is both sensitive and specific for diagnosing …