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One Woman's Case Gives New Hope Against Disfiguring Sarcoidosis

By Steven Reinberg

WEDNESDAY, Dec. 26, 2018 (HealthDay News) -- In very preliminary findings, an existing rheumatoid arthritis drug appeared to cure one woman of a rare but potentially life-threatening condition known as sarcoidosis.

After 10 months of use, tofacitinib (Xeljanz) appeared to eliminate all symptoms for the woman, who'd tried numerous standard treatments to no avail.

Sarcoidosis is an inflammatory disease that affects multiple organs. While some patients recover without treatment, others suffer damage to lungs, heart, lymph nodes, skin and other organs. On the skin, it can cause disfiguring lesions.

The disease "alters the immune system which, in turn, leads to increased inflammation in the body," explained Dr. Anup Singh, a pulmonologist at Lenox Hill Hospital in New York City.

"This increased inflammation may cause non-specific symptoms like cough, weight loss, rash, joint pain and swelling, palpitations, difficulty in breathing, headache or loss of vision," said Singh, who wasn't involved in the new study.

The new research was led by Dr. Nkiruka Emeagwali, a clinical fellow at Yale Medical School. She said current treatments for sarcoidosis include steroids or the anti-inflammatory drug known as methotrexate. Neither are reliably effective, however, and both can cause serious side effects, the researchers noted.

The Yale team suspected -- based on data from earlier trials -- that the rheumatoid arthritis drug Xeljanz might help. It belongs to a class of medicines called JAK inhibitors, because the drugs act on a specific biochemical pathway called Jak-STAT.

Researchers had already used this class of drug to successfully treat other chronic skin diseases such as vitiligo, alopecia areata and eczema.

In the new study, a 48-year-old woman with sarcoidosis took Xeljanz twice a day over several months. Over that time, her skin lesions nearly disappeared, the Yale team reported in the Dec. 27 issue of the New England Journal of Medicine.

"During treatment, not only does her skin disease go away, but there is no activation of the pathway," researcher Dr. Nkiruka Emeagwali, a clinical fellow at Yale Medical School, said in a Yale news release.

In addition, the researchers looked at genetic data from another patient before and during treatment, which proved that the Jak-STAT pathway was involved.

"We plan to evaluate the activation of the Jak-STAT pathway in the lung fluid and blood of over 200 patients with pulmonary and multiorgan sarcoidosis," she said.

The findings are being tested further in a clinical trial. If confirmed, they could represent a breakthrough for sarcoidosis patients, the researchers said.

"A frequently awful disease, which to date has no reliably effective therapy, may now be targeted with Jak inhibitors," said lead researcher Dr. Brett King, an associate professor of dermatology at Yale. "We have a relatively safe medicine that works."

Singh noted that the patient had exhausted many avenues for treatment.

She "had been treated with multiple anti-inflammatory drugs including oral steroids and methotrexate for eight years -- without any improvement of symptoms," he said.

Her success in eliminating sarcoidosis symptoms while taking Xeljanz "suggests that there is a different pathway of our immune system which is also involved in inflammation seen in patients of sarcoidosis," Singh said.

But he stressed that more study is crucial before the drug becomes a first-line treatment.

"This case report has given us hope for a newer treatment alternative in the form of tofacitinib," Singh said, but the drug "will remain an investigational option, until results of future studies are available."

More information

For more information on sarcoidosis, visit the U.S. National Heart, Lung, and Blood Institute.

SOURCES: Anup Singh M.D., pulmonologist, Lenox Hill Hospital, New York City; Yale University, news release. Dec. 27, 2018

Copyright © 2018 HealthDay. All rights reserved. URL:http://consumer.healthday.com/Article.asp?AID=740933

Resources from HONselect: HONselect is the HON's medical search engine. It retrieves scientific articles, images, conferences and web sites on the selected subject.
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