Kaye Kent eats oatmeal or Cream of Wheat for breakfast most mornings. If she actually liked hot cereal it wouldn’t be so bad, but she doesn’t have a choice.
She can’t eat anything harder than bread without the crust or foods that are acidic, spicy or seasoned. She can’t have salt, pepper, ketchup, mustard, onions or relish. They all cause her intense pain.
Last year she was diagnosed with pemphigus, a rare, life-threatening genetic disease most common among Ashkenazic Jews. The disorder, which is not contagious, causes blistering on the skin or the mucous membranes, especially in the mouth, which Kent likens to burns that won’t heal.
“I cannot believe how my eating habits have changed, but somehow you do it automatically,” said Kent, who eats a steady diet of plain vegetables, meats and tofu.
Most people, including many doctors and dentists, have never heard of pemphigus, an autoimmune disorder. But on the weekend of April 24-26, experts in the field will discuss treatment options and new research in a public forum during the International Pemphigus & Pemphigoid Foundation’s 12th annual Patient/Doctor Meeting at the Hyatt Regency Century Plaza.
While diagnosis for pemphigus is not common — .61 out of 1 million people in the general population — 2.7 cases per 100,000 can be found among Jews with Eastern European ancestry. The condition also afflicts people of Mediterranean, Northern Indian and Persian decent.
The symptoms — sores or blisters in the mouth or on the face, scalp, back and chest — can appear at any age, but occur most often for Ashkenazic Jews in their 50s and 60s.
Kent, 61, was diagnosed last year in January.
“I had this feeling for months. I knew something was wrong with me. You know your own body, and I just wasn’t feeling right,” she said. “If I got a little cut or something, I would bleed way too long.”
Symptoms appear gradually over time, according to Dr. Sergei Grando, a professor of dermatology who studies pemphigus at UC Irvine Medical Center. Most patients only seek help when their eating habits are affected or skin lesions become pronounced, he said.
“Because it comes on slowly, people don’t seek medical attention aggressively. If it’s in the [mouth], they go to the dentist, and the dentist has no clue about it,” Grando said. “On average in the United States, there’s a six-month lag time before a correct diagnosis after the onset of the first lesion.”
What makes pemphigus deadly is that the top layer of skin cells become “unglued,” leaving patients susceptible to infection. “It’s similar to a burn patient,” Grando said.
The corticosteroid drug Prednisone has proven effective in mitigating the symptoms, Grando said, but pemphigus itself can’t be cured. To stop it from spreading and to provide a better treatment outcome, Grando said, it’s important to begin an intense but brief Prednisone treatment as early as possible, followed by tapering the drug to a lower dose.
Because of the drug’s side effects — which can range from weight gain and mood swings in the short term to type 2 diabetes, osteoporosis and cataracts in the long term — Grando is focused on finding other treatments for the disease.
“My goal in life and medicine is to develop a steroid-free treatment for pemphigus,” he said.
For patients who can’t use corticosteroids because the side effects could prove deadly, Grando and others are turning to Rituxan — an immunosuppressive drug approved for non-Hodgkin’s lymphoma and rheumatoid arthritis whose side effects include respiratory problems, hives and aching joints. Rituxan has not yet received FDA approval for use for pemphigus, but doctors are hopeful that will be forthcoming.
“What got me almost in remission is Rituxan,” said Lynn Glick, 61.
Glick was first diagnosed for teeth grinding and then lupus pemphigoid before a dermatologist correctly identified the disorder as pemphigus through a blood test in 2000.
Glick, a Cheviot Hills resident, said she had to battle with her insurance company to get the Rituxan treatments covered.
“They said it was experimental,” she said.
When the Rituxan was finally approved, it was because her rheumatologist diagnosed her with rheumatoid arthritis.
She has had four treatments since May 2005 — each given once a week for four weeks, through an infusion that lasts five hours. The drug, however, did nothing for her arthritis.
“It did not help my arthritis at all. After the first two treatments, I got it in my feet,” she said.
But she said the change in her mouth was immediate. Suddenly, foods like popcorn, oranges and other favorites were back on the list.
“It cleared up my mouth,” Glick said. “It was amazing. I could eat things I couldn’t eat before.”
For more information about the 12th annual Patient/Doctor Meeting April 24-26, visit www.pemphigus.org.