Monthly Archives: April 2012

The 175 genes that were found to be significantly differentially expressed between cases and controls were used as input for pathway analysis with the ingenuity pathway analysis software. The network that was given the most significant P-value and the highest-scored functional pathways is shown. The network was found to be related to ST18 (marked in green). © 2012 Society for Investigative Dermatology

The recent buzz in the pemphigus and pemphigoid community stems from the publication of “Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris” in the Journal of Investigative Dermatology (available online, March 2012).

Despite the fact that pemphigus most often affects adults, it seems a large extent may be genetically determined. Indeed, the disease sometimes runs in families. Also, the deleterious antibodies implicated as a major cause of the disease can be found in healthy relatives of patients. And finally, the disease prevalence is highly population-dependent. For example, it is up to 40 times more common in Jewish as compared with non-Jewish populations.

The delineation of the genetic basis of a disease can reveal unknown aspects of its pathogenesis, which in turn is likely to point to novel therapeutic targets. To tackle the genetic basis of pemphigus vulgaris, Dr. Ofer Sarig and Eli Sprecher (Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel) led a collaboration with Ibrahim Saleh (co-Principle Investigator), Detlef Zilliekens, Michael Hertl and Markus M. Nöthen (Germany); Dedee Murrell (Australia), Aviv Barzilai, Henri Trau, Reuven Bergman, Ariel Darvasi, Karl Skorecki, Dan Geiger and Saharon Rosset (Israel).

Over the past two years, they assessed on a global (“genomic”) level the possibility that specific genetic variants may predispose to pemphigus vulgaris. They identified genetic variations in a gene called ST18 associated with the increased incidence of pemphigus vulgaris in Jewish and Egyptian patients. The fact that patients of German origin did not demonstrate the same trend suggests that the ST18 variants shows an increased risk for the disease in a population-specific manner. Carriers of the genetic changes have a 6-fold elevated risk of developing the disease. These genetic variations are associated with an increase in the expression of ST18 in the skin. Since ST18 is known to promote programmed cell death, increased expression of this protein may render the skin tissue more susceptible to the deleterious effects of the pathogenic antibodies.

Prof. Eli Sprecher is Director of Dermatology at The Tel Aviv Sourasky Medical Center in Israel.

What started as a posting of the story on Facebook quickly spread to the P/P Email Discussion Group where the talk turned to quicker diagnosis, better treatments, and a cure. Dr. Sprecher said, “The greatest reward for a physician involved in basic research like me is the feedback we get from our patients. This goes much deeper than anything else.” The P/P Community continues to be high-spirited and focused on researching this discovery and hopes more information is available at the IPPF’s Fifteenth Annual Meeting in Boston, May 18-20. 2012.

This step along the path of better understanding disease susceptibility and pathogenesis sheds new light on the genetic association of pemphigus vulgaris. Future work is still needed to more towards better genetic tools that impact disease management and targeted therapies.

But today, we are one step closer than we were yesterday.

As a Peer Health Coach with the IPPF, I am often reminded how fortunate that I am to be able to speak with so many individuals who lives have been affected in so many different ways from Pemphigus and Pemphigoid. I am able to take these collective experiences and pass them on to others in the form of recommendations, suggestions and advice. Even more amazing is the fact that the IPPF has four Peer Health Coaches doing this simultaneously!

This year your coaches have collectively worked with over 200 people answering questions, looking for physicians, helping with problems, providing educational information and providing peer support. Your coaches often discover fantastic “pearls” of information and have become great resources for all of us managing our conditions.  To help pass along some of this great information we have created “Coaches Corner”, where your coaches can share knowledge about Pemphigus and Pemphigoid to help you improve.

Recently, I had some one ask me about being a blood donor which was something that I had done regularly prior to being diagnosed and had often wondered if I would be able to do it again. I found that according to the American Red Cross, you are not eligible to donate blood if you have some types of generalized autoimmune disease including systemic lupus erythematosus and multiple sclerosis (Since Pemphigus is so rare it is not mentioned). They also provide the following guidelines:

  • “To give blood for transfusion to another person, you must be healthy,
  • be at least 17 years old,
  • weigh at least 110 pounds,
  • and not have donated blood in the last 56 days.”

“Healthy” means that you feel well and can perform normal activities. If you have a chronic condition such as diabetes or high blood pressure, “healthy” also means that you are being treated and the condition is under control. Other aspects of each potential donor’s health history are discussed as part of the donation process before any blood is collected. Each donor receives a brief examination during which temperature, pulse, blood pressure and blood count (hemoglobin or hematocrit) are measured.”

So based on those guidelines, I would not recommend giving a blood donation unless it were for your own use. I would, however, check with the local blood collection agency you are considering just to make sure.

Although I was slightly disappointed with what I found because I was hoping that I would be able to give blood, the knowledge that I gained by doing a little research was helpful. I also found some satisfaction in knowing that I can donate blood to help with Pemphigus and Pemphigoid research. Perhaps that is the best way to donate blood as someday it may lead to a cure!

Thanks for all your support,

Marc Yale
IPPF Certified Peer Health Coach