Monday, October 15, 2018

Treatment and Management of EPP

Treatment and Management
1.  Sunlight protection
Protection from sunlight is the mainstay of management of EPP, and this is necessary throughout life.  Disease severity and porphyrin levels in erythrocytes and plasma probably remain high and relatively constant throughout life in EPP.  However, this has been little studied and more longitudinal observations are needed.  Life style, employment, travel and recreation require adjustment in order to avoid painful reactions to sunlight and even from exposure to fluorescent lighting.  For these reasons EPP can substantially affect quality of life. 
Protective clothing, including broad-brimmed hats, long sleeves, gloves and trousers (rather than shorts), is beneficial.  Several manufacturers specialize on clothing made of closely woven fabrics for people with photosensitivity. 
2.  Other considerations
In an occasional patient, protoporphyrin causes liver problems, so monitoring liver function is important. EPP patients should also not use any drug or anesthetic which causes cholestasis (slowing down bile flow), and should also avoid alcohol. Women should avoid medications containing estrogen (birth-control pills, hormone replacement therapy), and men should avoid testosterone supplements, as these substances can also have deleterious effects on the liver of a person with EPP.
Consult a specialist.  Because EPP is a rare condition, most physicians are not knowledgeable about it.  Contact The American Porphyria Foundation, 713-266-9617 for contact with an expert and to provide further information.  A Medic Alert bracelet with instructions to contact a specialist if needed is a worthwhile precaution.
Yearly monitoring.  Testing to include erythrocyte total protoporphyrin, plasma porphyrin, complete blood counts, ferritin and liver function tests should be done yearly.  Porphyry levels are expected to be stable and liver tests to remain normal.  EPP patients may have evidence of iron deficiency, and an iron supplement may be advisable if the serum ferritin is below about 20 ng/mL. 
Vitamin D.  Because they avoid sunlight, EPP patients are likely to be deficient in vitamin D.  A vitamin D supplement with calcium is recommended for bone health. 
Liver protection.  It is important to avoid other causes of liver disease that might promote the development of liver complications from EPP.  Patients should avoid alcohol and other substances that might damage the liver, including many herbal preparations, and be vaccinated for hepatitis A and B. 
Surgical lights. Strong operating room lights can cause photosensitivity of the skin and even surfaces of internal organs.  Flexible membrane filters, such as CL5-200-X from Madico Co., are available to cover surgical lights and offer some protection.  This is especially important in EPP patients with liver failure, which causes even greater increases in protoporphyrin levels and photosensitivity. 
Drugs.  Drugs that are harmful in other porphyrias are not known to make EPP worse, but are best avoided as a precaution.  This may include estrogens and other drugs that might reduce bile formation.  A short course of a non-steroidal anti-inflammatory drug can provide some pain relief after an episode of photosensitivity, but can cause ulcerations of the digestive track especially with prolonged use. 
Laser treatment.  According to Dr. Roth, laser treatments for hair removal or eye surgery have not been a problem in EPP people.  But the doctor should be made aware of the diagnosis, and that laser output between 400 and 650 nanometers might be harmful. Before hair removal treatment, the doctor may irradiate a small area of the skin to be treated for the length of time it will take to do the hair removal to ascertain if the patient would react within the period of time that a reaction to sunlight would be expected in that patient.  

Saturday, October 13, 2018

CALLING ALL PETS!!!

CALLING ALL PETS!!!
Welcome to the 2019 APF Pet Calendar Contest – YOUR pet can win a coveted spot on this fun and informational calendar! 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. Enter your pets – then a link will be created to encourage voting! Pets are an important part of our lives and provide much-needed unconditional love in tough times. We look forward to showing off your special friends as your photos roll in!!
Here’s how it works:
To Enter (free!):
• Email a picture of your pet(s) to the APF by October 21st.
• Send to autumnlee@porphyriafoundation.org with the subject heading “APF Pet Calendar”. Make sure to include:
• Pet type and name
• Owner name, email, and mailing address**
• Send a caption, too! (optional)

To Vote:
• ALL photo entries will be included somewhere in the calendar, though the “top dogs” will be featured on the cover and in each month!
• 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.
Rules:
• You may enter one photo that contains as many of your pets you wish to include. Remember that this photo will be voted on so choose your best!
• Anyone can enter
• No professional or copyrighted photos
• Any type of pet can be submitted; past and present
• No humans please
• Photos cannot be photo shopped or professionally edited
Important Dates:
• Submissions due by October 21st
• Voting: October 23rd-November 8th
• Calendars ready for sale and shipping on November 25th!
Thank you to Nicole Castellano for leading this effort for the APF!
Please contact Autumnlee at the APF office with any questions at: autumnlee@porphyriafoundation.org or call (301) 347-7166.

GOOD LUCK TO EVERYONE and HAVE FUN!
Click below to watch Nicole's Video Introduction!

Thursday, October 11, 2018

REVIEW FOR ACUTE HEPATIC PORPHYRIA

Recordati Rare Diseases is launching a new 350mg dosage strength of Panhematin

Recordati Rare Diseases is launching a new 350mg dosage strength of Panhematin.  This is the first significant change to Panhematin since it was approved over 30 years ago.  The prescribing instructions have numerous updates including the removal of the boxed warning, addition of clinical studies section, updates to the adverse events section, and changes to dosing and administration.  The distribution process for Panhematin will stay the same.
The new dosage strength is being launched to better accommodate the current weight of patients and the current dosing of Panhematin in clinical practice.
A new copay assistance program for Panhematin will be available starting in July 2017.  This program can help eligible patients with their copay when they receive Panhematin on an outpatient basis.  Please see the Panhematin website (www.panhematin.com) for more information.

Tuesday, October 9, 2018

What is Variegate Porphyria?

Variegate Porphyria (VP)


What is Variegate Porphyria?
VP is caused by a mutation in the enzyme protoporphyrinogen oxidase (PPOX), which is part of the pathway that produces porphyrins and heme. Acute attacks are similar to those in AIP and HCP but are unusual. A more common sign of the disease is blistering skin lesions, which are chronic in many people with VP.
Acute attacks almost always start with severe pain in the abdomen but sometimes in the chest, back, or thighs, and are often accompanied by nausea, vomiting, and constipation. Heart rate and blood pressure are commonly increased. These symptoms and signs are all due to the effects of the disease on the nervous system. Confusion, convulsions, and muscular weakness, due to impairment of the nerves controlling the muscles, may lead to paralysis. An acute attack usually lasts for days or weeks. Recovery from severe paralysis is generally slow.

Who gets Variegate Porphyria?
VP is especially common in South Africa in individuals of Dutch ancestry, where it has been estimated that 3 in 1,000 of the white population are affected. It is much less prevalent in other countries. Like AIP and HCP, it is an autosomal dominant disorder, meaning that a mutation is present in only one of the pair of PPOX genes.

What causes Variegate Porphyria?
As in HCP, acute attacks of VP are unusual except in the presence of environmental activating factors, such as drugs, hormones, and dietary changes. See HCP for discussion of these issues.

How is Variegate Porphyria Diagnosed?
Urine ALA and PBG are increased during attacks, but as in HCP, these may increase less and decrease more rapidly than in AIP. Plasma porphyrins are frequently increased in VP, in contrast to AIP and HCP, and the plasma of VP patients displays a distinctive fluorescence peak, which is diagnostic. Fecal porphyrins are also elevated and are predominantly coproporphyrin III and protoporphyrin.
What are treatments for Variegate Porphyria?
Management and prevention are the same as in AIP and HCP. Blistering skin lesions are much more common than in HCP and are not readily treated. The only effective preventive measure is use of protective clothing.

What is the long-term outlook after an attack of Vairegate Porphyria?
The prognosis is usually good if the disease is recognized and treated promptly, before nerve damage develops. Although symptoms usually resolve after an attack, recovery of neuromuscular function (in a severe case) may require several months. Mental symptoms may occur during attacks but are not chronic. Premenstrual attacks often resolve quickly with the onset of menses.

Can attacks be prevented?
Yes, particularly with regard to drugs and diet. Genetic VP carriers should become informed on medications to avoid (see information on AIP and HCP) and should be prepared to point their healthcare providers to on-line drug lists that are regularly updated. The American Porphyria Foundation offers a mobile phone app that pulls up this information on line (http://porphyriadrugs.com/). A Medic Alert bracelet is useful for a situation in which the patient is incapacitated. Very frequent premenstrual attacks can be prevented by a gonadotropin-releasing hormone (GnRH) analogue (Lupron, Zoladex, others) administered with expert guidance. In selected cases, frequent noncyclic attacks can be prevented by once- or twice-weekly infusions of hemin.
Individuals who are prone to attacks should consume a normal balanced diet. Despite on-line discussion, there is no evidence that pushing carbohydrate prevents attacks, and it has the side effect of weight gain, which is undesirable for most people. Fasting, fad diets (for example, high protein) and gastric reduction surgery should be avoided. If weight loss is desired, it is advisable to consult a physician and a dietitian about an individualized diet with modest caloric restriction (ca. 10%), which will produce gradual weight loss without increasing the risk of an attack of porphyria. Exercise is safe in porphyria, and recommended.

Tuesday, October 2, 2018

Porphyria Post

Porphyria Post
CLINUVEL INITIATES VARIEGATE PORPHYRIA PROOF OF CONCEPT STUDY
·    Today CLINUVEL announced it has initiated a new clinical trial in variegate porphyria (VP), set to commence in Europe in 2019. 

Click on the link below to view the announcement. 

RSVP TODAY!
Patient Education and Support Meetings coming your way. Contact the APF today to RSVP! We look forward to seeing you there.
Patient Education and Support Meeting - Missouri
LOCATION
Mound Ridge Retreat and Mission Center | 31 Agape Lane | Cook Station, MO 65449
DATE AND TIME
10/27/18 12:00pm - 10/27/18 2:00pm
Question and Answer session by Porphyria Expert via Skype. Family and Friends are welcome to attend. Lunch will be provided.

Patient Education and Support Meeting - San Francisco
LOCATION
UCSF Medical Center | 505 Parnassus Ave.| Room: S-157| San Francisco, CA 94143
DATE AND TIME
11/11/18 5:30pm - 11/11/18 7:00pm
Question and Answer session by Dr. Bruce Wang. Seating is limited. Please RSVP Today!!



Contact Information

Is your contact information up to date?
If not please give us a call @ 866-APF-3635 or Email to porphyrus@porphyriafoundation.com
American Porphyria Foundation| 1.866.APF.3635 | porphyriafoundation.org
STAY CONNECTED

"Remember....Research is the Key to Your Cure!"

Monday, October 1, 2018

APF Merchandise SALE BOGO & Free Gratis Gift

  • ***ANY PURCHASE THIS WEEK WILL RECEIVE FREE APF Gratis***


APF Merchandise for Sale!
Our hope is that you all will buy and wear APF merchandise to help promote and raise awareness about Porphyria.  Please note that all orders will go through APF employee Amy Chapman.  Amy@porphyriafoundation.org
****We DO NOT accept orders through FB****
 Please submit your order and payment toAmy@porphyriafoundation.org or call 1-616-213-0030 directly and leave a detailed message.
Please send an email and include the following:  Full Name, complete mailing address, phone number.
Order: Please send your items that you would like to order by quantity & size for each T-shirt.  For privacy purposes, please send in the email either the Visa/MC Number, Expiry Date, & CVV code on the back of your card.  If you prefer I can contact you by phone.  NO CC info is EVER kept on file!
All orders include shipping prices for USPS only **International orders may be priced higher allow 48 hours**

Please review this link for color and size selection:

 http://www.porphyriafoundation.com/content/apf-merchandise

ITEMS FOR SALE:  

BOGO - Buy One Get One Free! 
V-Neck Short Sleeve Shirts - Deep Purple
Sizes available: Adults Only- S, M , LG, X-LG, 2XL, 3XL- (X-LG. 2XL, 3XL are $3.00 each more)
Price Each- S, M, L $20.00 Each ** X-LG. 2XL, 3XL are $3.00 each more**

Long Sleeve Shirts~ are 6 ounces each 100% Cotton.  Colors are Medium Gray or Purple
Sizes available Adults Only- S, M , LG, X-LG, 2XL, 3XL- (X-LG. 2XL, 3XL are $3.00 each more)
Price Each- S, M, L $20.00 Each ** X-LG. 2XL, 3XL are $3.00 each more**


Long Sleeve 100% Cotton Thick Zip Up Hoodie  Colors are Medium Gray or Royal Purple.
Price Each- S, M, L  $45.00 Each ** X-LG. 2XL, 3XL are $5.00 each more**


Long Sleeve 100% Cotton Pull Over Hoodie  Colors are Medium Gray or Purple
Price Each- S, M, L $40.00 Each ** X-LG. 2XL, 3XL are $5.00 each more**


Gray Soft Baseball cloth hats adjustable hat backside- $22.00 Each  (Fits Adults Sizes)


Wristbands- 2/$6.00 or $3.00 each Colors are Blue or Purple


Porphyria Car or Fridge Magnet $8.00 each

Friday, September 28, 2018

September is Pain Awareness Month

September is Pain Awareness Month

The month of September has been declared Pain Awareness Month. Pain Awareness Month is a time when various organizations work to raise public awareness of issues in the area of pain and pain management.
The first Pain Awareness Month was in 2001, when the ACPA led a coalition of groups to establish September as Pain Awareness Month. ACPA established Partners for Understanding Pain and 80 organizations, both health care professionals and consumer groups, including the NAACP supported the effort.


http://www.theacpa.org/wp-content/uploads/2017/08/Pain_Awareness_Month_History.pdf
The key to raising awareness is to get involved. There are many things that you can do to help promote Pain Awareness Month.
·      Talk with Friends & Family: Let them know that September is Pain Awareness Month. “Like” the ACPA on Facebook. Encourage your friends to do the same.
·      Talk with your Healthcare Provider: Let them know that September is Pain Awareness Month. You also can share the tools to better communicate with your healthcare team found at the links below:
·       
o   Videos
o   Resources
o   FAQs
o   Surveys


·      Call your local government and community leaders to let them know about Pain Awareness Month and issues of pain and pain management

·      Call your local media and ask them if they are doing a story on Pain Awareness Month.

·      Donate to the APF: Your contributions allow us to help fulfill our mission and work year-round to raise awareness and support for those with chronic pain. www.Porphyriafoundation.org


·       Take care of yourself! Take time out for yourself this month.

Treatment and Management of EPP

Treatment and Management 1.  Sunlight protection Protection from sunlight is the mainstay of management of EPP, and this is necessary t...