Pemphigus

Pemphigus is a group of rare autoimmune blistering diseases of the skin and/or mucous membranes. Pemphigus is not contagious - not even blood to blood.

What?

Our immune system produces antibodies that normally attack hostile viruses and bacteria in an effort to keep us healthy. In a person with pemphigus, however, the immune system mistakenly perceives the cells in skin and/or mucous membrane as foreign, and attacks them.

Antibodies that attack one's own cells are called autoantibodies. The part of the cells that are attacked in pemphigus are proteins (desmogleins) which act as the glue that attaches adjacent skin cells, keeping the skin intact.

When autoantibodies attack desmogleins, the cells become separated from each other. The skin virtually becomes unglued. This causes burn-like lesions or blisters that do not heal naturally. In some cases, these blisters can cover a significant area of the skin.

The disease appears to affect people across racial and cultural lines, so it's not possible to predict who may get pemphigus.

Types

Pemphigus Vulgaris (PV)

The term "vulgar" means "common," and PV is the most commonly diagnosed form of pemphigus.
Sores and blisters almost always start in the mouth. The blisters can go as far down as the vocal cords, but no further.
The lesions are painful. Sometimes there is the effect that when just touching the skin can cause it to tear.
PV does not cause permanent scaring unless there is infection associated with the sore.
Today, with current therapies, the mortality rate is only 5% to 15%.

Pemphigus Foliaceus (PF)

Crusted sores or fragile blisters usually first appear on the face and scalp and later involve the chest and back.In pemphigus foliaceus, blisters and sores do not occur in the mouth.
The blisters are superficial and often itchy, but are not usually as painful as PV.
In PF, disfiguring skin lesions can occur, but the mortality rate from the disease is much lower than in PV.

Paraneoplastic Pemphigus (PNP)

PNP is the most serious form of pemphigus. Fortunately, it is also the least common.
It occurs most often in someone who has already been diagnosed with a malignancy (cancer).
Sores of the mouth, lips and esophagus are almost always present; and skin lesions of different types occur. PNP can affect the lungs.
In some cases, the diagnosis of the disease will prompt doctors to search for a hidden tumor. In some cases the tumor will be benign and the disease will improve if the tumor is surgically removed.
It is important to know that this condition is rare and looks different than the other forms of pemphigus.
The antibodies in the blood are also different and the difference can be determined by laboratory tests.
Benign familial pemphigus, also known as Hailey-Hailey disease is NOT an autoimmune disease. Hailey-Hailey is a genetic form of pemphigus.

Diagnosis

Early diagnosis may permit successful treatment with only low levels of medication. Consult a dermatologist if there are any persistent skin or mouth lesions. Because it is rare, pemphigus is often the last disease considered during diagnosis.

For a definite diagnosis, doctors consider:

Clinical presentation — visual examination of skin lesions.
Lesion biopsy — A sample of the blistered skin is removed and examined under the microscope. Additionally, the layer of skin in which cell-to-cell separation occurs can be determined.
Direct immunoflourescence — The skin sample is treated to detect desmoglein antibodies in the skin. The presence of these antibodies indicates pemphigus.
Indirect Immunofluorescence or antibody titer test. This measures desmoglein autoantibodies in the blood serum. It may be used to obtain a more complete understanding of the course of the disease.
ELISA A serum assay for desmoglein antibodies, known as ELISA, is also available. Although in many cases there is a correlation between ELISA and disease activity it is not so in every case.

Use our checklist of items for newly diagnosed patients to discuss with a physician.

Who gets it?

Definitive statistics on the incidence and prevalence of pemphigus are not available, but estimates of the number of new cases diagnosed each year ranges from as high as 5 per one hundred thousand to as low as one per million, depending upon the type of pemphigus and the ethnicity of the affected population.
It is known to affect people across racial and cultural lines. However, there are certain groups of people (Eastern European Jews, people of Mediterranean, Northern India and Persian decent) who have a higher incidence of the disease. Research studies suggest a genetic predisposition to the disease.
Men and women are equally affected.
Although the onset usually occurs in middle-aged and older adults, PV and PF also occur in young adults and children.
Cats, dogs, horses, and goats can also have PV or PF, although PF is more common.

Treatment

Corticosteroids

Prompt and sufficient doses of corticosteroids, usually prednisone or prednisolone, are required to bring pemphigus under control. Once controlled, the steroid is reduced slowly to minimize side effects. Some patients then go into remission; however, many patients need a small maintenance dose to keep the disease under control.

Immunosuppressants

Azathioprine (Imuran®)
Mycophenolate mofetil (CellCept®)
Cyclophosphamide (Cytoxan®)
Cyclosporine

IVIg

Intravenous ImmunoGlobulin (IVIG) therapy is prepared from extracting the plasma in human blood. It can take up to 2000 blood donors to make one round of treatment for a patient with pemphigus. Manufacturers make IVIG using several different methods during the manufacturing process to help provide a safe product. Donors are screened for HIV and Hepatitis viruses (B and C) so that patients can be assured that the risk of getting these diseases is reduced. Most products on the market worldwide also go through at least one viral inactivation step in order to kill any remaining active viruses in the unlikely event one is present after the manufacturing process.

IVIg is administered intravenously over several hours to reduce the risk of any serious side effects. The course of treatment will depend on the severity of disease.

Side Effects & Precautions

Potential side effects are headaches, nausea, stomach aches, high blood pressure, and stroke.

Related Websites

Additional Drugs

Other drugs that are used routinely with varying effects are:

Dapsone®
Gold injections
Methotrexate
Tetracycline, minocycline, or doxycycline combined with niacinamide
Biologics - several of these drugs (rituximab/Rituxan®, infliximab/Remicade®, eterancept/Enbrel®) are in clinical trial. (See Treatments)

Patients on these medications must have blood and urine monitored on a regular basis to be aware of possible serious side effects.

An indirect immunofluorescence test (antibody titer count) will generally show a high count when the disease is more active, and will be low or undetectable when the disease is in remission.

To date, no studies have shown that alternative, homeopathic, or any other non-traditional method has been successful in treating these diseases. For the best possible results, it is imperative that effective medical advice be sought and treatments be administered.

However, alternative therapies may be useful to help reduce drug side effects, once the disease is under control.

If you do not have a doctor or if your doctor is not familiar with the current treatments for pemphigus, contact us for a referral.

Quality of Life

A diagnosis of pemphigus can be very upsetting. One day you feel perfectly healthy, the next day you learn you have a chronic, life-threatening illness. In general, once pemphigus and pemphigoid are under control, you should be able to return to your normal lifestyle. You may notice there are times when you feel wonderful, and other times when you feel discouraged, in pain, or depressed. There are cases where pemphigus or pemphigoid can be very debilitating, and cause lost time at work, loss of appetite, inability to eat normally, weight loss, loss of sleep, hospitalization, emotional distress, etc. Fortunately, this usually occurs with the onset of the disease, during the search for a correct diagnosis and proper treatment. Once the disease is diagnosed and effective treatment is initiated, you will find your life returning to normal.

Much of the impact on lifestyle comes as a result of side effects caused by prednisone.

Type 2 Diabetes (steroid-induced diabetes) is a common side effect of prednisone and creates a need for a modified diet. Generally, this type of diabetes will diminish as the dosage of prednisone is reduced and goes away when prednisone is stopped.
Many people on prednisone also experience emotional difficulties and mood changes. If these are continual and severe, other medications are often used to help mitigate these side effects.
Another commonly reported side effect of prednisone is weight gain. A high protein, low carbohydrate, low fat diet, as well as a regular exercise program is recommended for those taking prednisone.
Osteoporosis, glaucoma, and cataracts are also known side effects of prednisone, and regular checkups with your health care providers will enable most people on prednisone to effectively counter these side effects with appropriate therapies and attention.
It is very important to make certain that all physicians, doctors, and specialists involved with a treatment regimen are in contact with one another to avoid conflicting medications and to be sure that each doctor's treatments are working in harmony with the others. Also, all lab test results should automatically be given to all physicians on a particular case.

Stress

Many people who live with pemphigus report a direct relationship between increased stress and flares in disease activity. Others seem to be unaffected by increased stress.

If you believe stress is related to increased incidence of lesions, it is wise to address and resolve those stress issues. Obviously, many causes of stress are not a matter of choice, but the manner in which an individual deals with the various sources of stress can be modified. One of the most common and effective ways to help reduce stress is to openly and honestly discuss it with a spouse, friend, or therapist. Having someone in your corner helps. Consider becoming part of our Forum Community.

Nutrition

Many nutrition concerns arise from the medication prednisone. In order to control an outbreak of pemphigus, a prompt response with a large dose of prednisone is generally prescribed.

Use of this drug requires a diet high in protein, low in carbohydrates, low in salt, low in fat, with special attention paid to calcium and potassium levels.

Calcium with vitamin D supplements are routinely ordered.

Acidophilus, a beneficial bacteria found in yogurt, as well as in dietary supplements, is recommended for those who frequently use antibiotics. It also may helps prevent yeast infections.

It has been documented that some some patients have a sensitivity to garlic, onions and leeks (the Alium food group). These foods and possibly others may trigger or worsen flair-ups. A member of the IPPF Medical Advisory Board, Dr. Sarah Brenner of Israel, is doing research in this area. Read Foods That Eat You.

If you suspect that eating certain foods causes blisters, then try it a second time, and if it happens again, eliminate that food from your diet.Be sure to discuss your present diet, medications, and lifestyle with your physician and/or dietician before making changes to your diet.

More Nutrition Information:

USDA Everything you want to know about food except how it tastes.

USDA (General nutrition information)

Mayo Clinic's nutrition articles

Having trouble swallowing? See this information provided by the Mayo Clinic.

Caregiving

Though the concerns of those who live with pemphigus are considerable, the impact on spouses, family members, and caregivers should not be ignored or underestimated. If you are a caregiver, please feel free to use the online discussion group as a tool to help, as well as to contribute your knowledge and experience to those who might need you help.

Being a caregiver comes with its own set of challenges. One of the most helpful tools in dealing with this issue is to become as informed as possible. When your loved one has questions, it is of great comfort to him or her to be able to hear a good answer. In general, there is very much to be positive about regarding treatment and control of pemphigus. Understanding the basics of the disease, along with general treatment protocol, as well as having a few anecdotal instances gives you and your loved one the assurance that you are not alone and that what you are experiencing has been experienced and overcome by someone else.