Monday, November 4, 2013

Rare Disease means Little Holiday Joy for Thousands


We are entering a season that involves an abundance of eating. Enjoyment of holiday foods is an important part of  gatherings with family and friends. However, there are going to be thousands of people that will have problems feeling festive and merry, because they can't eat.

I have seen in recent weeks a few patients with a blistering condition known as pemphigoid. This condition causes painful blisters in the mucous membranes inside the mouth and into the esophagus. These blisters can also affect the skin, causing intense itching and burning, which is why patients visit a dermatologist.

This is an extremely rare condition. Estimates range from 1 per million to 5 per 100,000. When I see a patient with this condition, I do all I can to make sure the patient is getting the best possible care. Often, patients have been misdiagnosed for months, even years. Some patients with mouth blistering see several dentists at first to figure out the problem.

Pemphigoid is an autoimmune disease. For some reason, the immune system attacks healthy tissue, causing a separation of the different layers of skin.

These patients suffer. Painful blisters on the face, legs, arms and even groin seriously effect quality of life. Some patients have to quit working and rely on public assistance for survival. Patients whose blistering is located internally are unable to enjoy even soft foods due to the slightest pressure on the blister causing extreme pain. Pemphigoid patients take corticosteroids to control the condition, some even take drugs that are designed to control organ transplant rejection, even though these patients have not had transplants.  As you can probably imagine, these drugs can cause side affects that also interrupt quality of life for patients.

If you or someone you love has unexplained blisters on the skin or inside the mouth, consider visiting a dermatologist who will do a biopsy to help diagnose the condition. The longer pemphigoid goes undiagnosed, the worse the condition will become and the more likely unsightly scarring will result.

There are support groups in some cities. The International Pemphigus and Pemphigoid Foundation offers educational materials and treatment referrals.

So during this season of festivities and good cheer, just remember that so many of our fellow citizens, perhaps even someone you know, can't celebrate the way they wish they could due to a wide variety of illnesses and health challenges. Be thankful for your continued good health, for that is the best holiday gift you could ever receive.