This blog is dedicated to all the Porphyria patients worldwide.
The American Porphyria Foundation will provide updates and information here, as well as on the main site - http://porphyriafoundation.org
We are excited to announce that we will launch our newly
updated APF website TOMORROW. It is optimized to offer the patient
community and healthcare professionals easy access to critical content -
written by renowned experts - on all of the porphyrias.
On Thursday, November
1, 2018 you will be able
to access the new website from any browser and on any device at
Thank you to our members, industry partners, and our
brilliant physicians for making this update possible!
Mobile view of the New APF Homepage!
CALENDAR UPDATE: We are a week
into voting and have seen an outstanding response! There is still a week
left so remember to vote for your favorite pet picture and show your
support of the APF. You can visit the APF website and see all of our
amazing entries to pick who you want to see on the cover of the 2019 APF
Pet Calendar! All photos will be included in the calendar though. Happy
23rd - November 8th
Calendars ready for sale and shipping on November 25th!
Starting your holiday shopping? Many of you purchase
numerous items from Amazon. Did you know that your you can support the APF
through the AmazonSmile
program! Amazon donates 0.5% of the price of your eligible AmazonSmile
purchases to the charitable organization of your choice.
Please make the APF your choice of a charitable donation.
Support porphyria while shopping!
Note, this program to provide donations to the APF will ONLY
be available to shoppers who visit Amazon via a special web address,
instead of the normal www.amazon.com
It is easy and free! AmazonSmile is the
same Amazon you know - same products, same prices, same service.
VOTE: 2019 Pet Calendar, RSVP - Patient Education Meetings and EPP Clinical Trials
Let the voting begin!
Submissions have now closed for the 2019 Pet Calendar Contest. We appreciate all of your entries and can't wait to see how well everyone does in the contest.
If you haven't already done so, please go to the APF website to see everyone's submissions!
Make sure that you see your share this link and your individual voting pages with your family and friends.
The final 12-month wall calendar will feature your wonderful animals, porphyria facts, tips, and important dates. Voting for the top slots will be held online and will benefit our critical Protect the Future program.
ALL photo entries will be included somewhere in the calendar, though the “top dogs” will be featured on the cover and in each month!
Starting October 23rd - Your pet’s photo will be posted on the APF website for all to see. You’ll be able to share the link with family and friends to encourage a vote! Anyone can participate with a $1+ donation per vote.
Voting: October 23-November 8
Calendars ready for sale and shipping on November 25th!
These Emergency Room
Guidelines (download PDF) cover
essential information for the emergency physician treating a patient in an
acute porphyria attack, including common precipitating factors, typical
presentation and other diagnostic clues, making the initial diagnosis, common
sequelae and best practices for treatment. A PowerPoint presentation (as PDF) for
instruction is also available.
Please note: These
Guidelines are for Physician Use Only. The APF sells a separate,
personalized Emergency Room and Primary Care Physician Kit that
contains all the information acute porphyria patients need to have with them in
the Emergency Room (medical journal articles, information about diagnostic labs
room for your own diagnostic test results).
Neville R Pimstone MD,
PhD, Head Liver Diseases Greater West Los Angeles Veterans Affairs, Professor
Emeritus UC Davis
Karl E. Anderson MD, Professor, Departments of Preventive Medicine and
Community Health, Internal Medicine, Pharmacology and Toxicology; Associate
Director, General Clinical Research Center,
Director, Porphyria Center and Laboratory, University of Texas Medical
Branch, Galveston, Texas
Bradley Freilich, MD, Kansas
City Gastroenterology and Hepatology, LLC
1. The human porphyrias
are clinical disorders reflecting defects in heme biosynthesis.
2. Acute porphyrias cause acute attacks of neurological symptoms that can be
3. Acute attacks are triggered by certain drugs, sex steroid hormones, reduced
intake of calories and carbohydrate, alcohol and unknown factors.
4. Many of these factors stimulate heme synthesis in the liver, which in the
face of a metabolic enzyme defect, leads to increased production of heme
precursors that may be neurotoxic.
5. Delta-aminolevulinic acid (ALA) and porphobilinogen (PBG), are porphyrin
precursors and intermediates in the heme biosynthetic pathway.
6. ALA and porphobilinogen (PBG) are almost always elevated in urine during an
acute attack of porphyria.
7. The most common emergency room (ER) clinical presentation is acute abdominal
pain. Other features may include seizures, confusion and hallucinations, and a
progressive polyaxonal motor neuropathy, which can progress to paralysis and
respiratory failure requiring a ventilator.
8. A high index of suspicion in the presence of nonspecific symptoms is
important for diagnosis. A family history of porphyria, female sex, onset
during the luteal phase of the menstrual cycle, or recent use of a
porphyrinogenic drug may be diagnostic clues.
9. A new diagnosis of porphyria as the cause of acute symptoms must be
substantiated by finding a substantial increase in urine porphobilinogen (PBG).
10. Treatment should start promptly after the diagnosis is made. Mild attacks
are sometimes treated with glucose loading (e.g. 3L of 10% glucose daily by
11. Most acute attacks should be treated with hemin (Panhematin®, Recordati
Rare Diseases at: www.recordatirarediseases.com or 866-654-0539)
3-4mg/kg into a large peripheral vein or venous access port daily for 4 days.
Reconstituting Panhematin® with human serum albumin rather than sterile water
is recommended prior to infusion. This helps prevent phlebitis at the site of
12. Hospitalization is usually required for symptomatic treatment of pain,
nausea and vomiting, correction of electrolyte imbalance and observation for
respiratory impairment, either to a general medical service or ICU.
We are pleased to let you know
that the final version of your article Diagnostic Delay in
Erythropoietic Protoporphyria is now available online, containing
full bibliographic details.
To help you access and share
this work, we have created a Share Link – a personalized URL
providing 50 days' free access to your article. Anyone
clicking on this link before December 11, 2018 will be taken directly to
the final version of your article on ScienceDirect, which they are welcome
to read or download. No sign up, registration or fees are required.
Understanding the thoughts and feelings of other individuals is essential for navigating the social world. But empathy is a complex process, based in part on fleeting facial expressions. Research suggests that we empathize by effectively putting ourselves in others’ shoes: for example, when we observe someone feeling sad, we simulate their experience by activating the same regions of the brain that are involved when we feel sad ourselves.
A study in the Journal of Neuroscience in February bolsters this idea using rare individuals with “mirror-touch synesthesia.” When watching another individual being touched, these people actually feel a touch on the same part of their own body. Neuroscientist Michael Banissy and his colleagues at University College London tested whether this heightened ability to simulate another person’s experience would cause eight mirror-touch synesthetes to excel at recognizing the emotions embedded in facial expressions. They did, correctly identifying 92 percent of the facial expressions tested compared with the 81 percent identified by control subjects. Their success probably stemmed from their simulation expertise rather than a general agility with faces because further experiments showed they were no better than controls at recognizing a person’s identity.
For the rest of us without mirror-touch synesthesia, the simulation process is the same but less pronounced, Banissy says. So the next time you find yourself sympathizing with someone who looks sad, thank the part of your brain that feels you frown.
I enjoyed reading this over, when we face trials, illness, over outward expressions can speak volumes and usually we say were doing ok or good! So be honest with how you feel!
Thanks to Michele for letting me pass this on to you.