Boston Doctors Discover Treatment for Potentially Fatal Autoimmune Skin Disease; Reported in NEJM.

Combination Therapy Had Patients in Prolonged Continuing Remission

BOSTON -- Four Boston doctors had their research regarding the treatment of autoimmune disease reported in this week's New England Journal of Medicine (NEJM). Specifically Drs. Abdul Razzaque Ahmed, Zachary Spigelman, Lisa Cavacini and Marshall Posner reported on their use of rituximab and intravenous immune globulin in patients with recalcitrant pemphigus vulgaris.

Pemphigus vulgaris is a potentially fatal autoimmune blistering disease that affects the skin and mucous membranes. It has been treated traditionally with high doses of corticosteroids, intravenous immune globulin and immunosuppressive agents. Patients often experience significant side effects. In this trial the doctors studied patients for whom the disease covered 30% or more of their body surface area, or three or more mucosal sites, or both, and all of whom who had failed to respond to conventional immunosuppressive therapy, for over six years.

The results were outstanding. Out of 11 patients, 9 had lesions which healed completely within two to two and one-half months, with a mean clinical remission that has lasted for 31.1 months. Two patients had recurrences and were treated with rituximab only which resulted in sustained remissions. Anticipated side effects were not observed nor did the patients suffer from infections. The paper concluded that "the combination of rituximab and intravenous immune globulin is effective in patients with refractory pemphigus vulgaris."

Lead researcher Dr. Abdul Razzaque Ahmed noted, "Rituximab has already been used to treat other auto immune diseases, such as rheumatoid arthritis. We are hopeful that the rapid improvement in patients' status and the long term nature of the resulting remissions shown in this study could eventually lead to a viable treatment for other autoimmune antibody-mediated diseases such as lupus."

One of Dr. Ahmed's patients helped by the treatment is Peter Reich, Director of Special Projects at Boston University's School of Medicine and Assistant Professor of Environmental Medicine at BU School of Public Health. Reich was so adversely affected by pemphigus vulgaris that he was in a coma for 9 weeks. Since he received this novel therapy, he has been able to return to work full time.

Reich noted, "When I found this treatment, it was like a miracle. This is not a cure, but this treatment brings us closer to being able to continue with our normal lives and is much better than anything developed so far."

Another patient, Dr. Linda Hill, chairperson of the Leadership Initiative and the Organizational Behavior Unit at Harvard Business School, was in a local hospital for six weeks followed by months of in-home care.

Hill said, "Dr. Ahmed and Dr. Spigelman saved my life. I had lost so much skin, it was a life threatening situation. This treatment eventually allowed me to once again hold my young son and then eventually to fully resume my professional career."

In the study, five patients who had been totally unable to work because of the disease were able to return to work full time after treatment. The study noted "no observable side effects were associated with the use of rituximab and intravenous immune globulin and therapy with these two agents resulted in sustained and complete remission in 9 of 11 patients and eventually in complete control of the disease in all 11 patients. All patients were able to discontinue all systemic treatment."

All patients in this study provided informed consent in writing and the study was approved by an institutional review board. The Journal noted that no potential conflict of interest was reported related to the article.

Pemphigus vulgaris is a rare disease affecting 1 to 1.5 people in 150,000 in the population', however, the broader category of auto immune diseases, which includes pemphigus vulgaris, impacts 8.5 million people.

Dr. Paul Konowitz is on the Board of the International Pemphigus Foundation in Sacramento, California. His perspective on the disease is very unique.

"I am an ear, nose and throat surgeon and the disease often impacts those areas. Imagine my surprise when I found my symptoms were pemphigus," said Konowitz. Although I was out of work for 16 months, thanks to this innovative treatment that Dr. Ahmed has discovered, I am now back performing surgeries. Perhaps, more important, I truly understand this devastating disease from the patient's point of view."