Description

Systemic mastocytosis (mas-to-sy-TOE-sis) is a rare disorder that results in too many mast cells accumulate in your body. A mast cell is a type of white blood cell. Mast cells are found in connective tissues throughout the body. Mast cells to help your immune system to function properly and, usually, to help protect against the disease.

When you have systemic mastocytosis, the excess of mast cells accumulate in the skin, the bone marrow, digestive tract or of other organs of the body. When activated, these mast cells release substances that can cause signs and symptoms similar to an allergic reaction and, at times, the severe inflammation that can result in damage to the organs. Common triggers include alcohol, spicy foods, insect stings and certain medications.

Symptoms

The signs and symptoms of systemic mastocytosis depend on the part of the body affected by the excess of mast cells. Also many of mast cells can accumulate in the skin, the liver, the spleen, bone marrow, or the intestines. Less frequently, to other organs such as the brain, heart or lungs can also be affected.

The signs and symptoms of systemic mastocytosis may include:

  • Redness, itching, or hives
  • Abdominal pain, diarrhea, nausea, or vomiting
  • Anemia or bleeding disorders
  • Bone and muscle pain
  • Enlargement of the liver, spleen, or lymph nodes
  • Depression, changes in mood or concentration problems

Mast cells are activated to produce substances that cause inflammation and symptoms. People have different factors, but the most common include:

  • Alcohol
  • Irritation of the skin
  • Spicy foods
  • Exercise
  • Insect bites
  • Certain medications

When to see a doctor

Talk with your doctor if you have problems with redness or a skin rash, or if you have concerns about the signs or symptoms listed above.

Causes

Most cases of systemic mastocytosis are caused by a random change (mutation) in the gene KIT. Normally this error in the KIT gene is not inherited. Too many mast cells are produced and accumulate in the tissues and organs of the body, releasing substances such as histamine, leukotrienes, and cytokines that cause inflammation and symptoms.

Complications

The complications of systemic mastocytosis may include:

  • Anaphylactic reaction. This severe allergic reaction includes signs and symptoms such as palpitations, fainting, loss of consciousness and shock. If you have a severe allergic reaction, you may need an injection of epinephrine.
  • Disorders of the blood. These can include anemia and poor blood clotting.
  • Peptic ulcer disease. Chronic irritation of the stomach can lead to ulcers and bleeding in the digestive tract.
  • Reduction of bone density. Because systemic mastocytosis can affect the bones and the bone marrow, may be at risk of problems with bones, such as osteoporosis.
  • Organ failure. An accumulation of mast cells in the organs of the body can cause inflammation and damage to organs.

Diagnosis

For the diagnosis of systemic mastocytosis, your doctor will likely start by reviewing your symptoms and discuss your medical history, including medications that I have taken. He or she may order tests that seek high levels of mast cells or substances that release. Evaluation of the organs that are affected by the condition may also be made.

Tests may include:

  • Blood or urine tests
  • Bone marrow biopsy
  • Skin biopsy
  • Imaging tests such as x-ray, ultrasound, bone scan, and computed tomography
  • Biopsy the organs that are affected by the disease, such as the liver
  • Genetic testing

Types of systemic mastocytosis

The five main types of systemic mastocytosis include:

  • Systemic mastocytosis indolent. This is the most common type and generally do not include the dysfunction of organs. The symptoms of the skin are common, but other organs can be affected, and the disease may slowly get worse with time.
  • Smoldering systemic mastocytosis. This type is associated with more significant symptoms, and may include organ dysfunction and worsening of the disease over time.
  • Systemic mastocytosis with other blood or bone marrow disorder. This severe type that develops rapidly and is often associated with organ dysfunction and damage.
  • Aggressive systemic mastocytosis. This rare type is more severe, with significant symptoms, and is usually associated with progressive organ dysfunction and damage.
  • Mast cell leukemia. This is a very rare and aggressive form of systemic mastocytosis.

Systemic mastocytosis is more frequent in adults. Another type of mastocytosis, mastocytosis of the skin, usually occurring in children and usually affects only the skin. Usually does not progress to systemic mastocytosis.

Treatment

The treatment can vary, depending on the type of systemic mastocytosis and organs in the body affected. Treatment usually involves management of symptoms, the treatment of the disease and regular monitoring.

The control triggers

Identify and avoid the factors that can trigger mast cells, such as certain foods, medications or insect bites, you can help maintain systemic mastocytosis symptoms under control.

Drugs

Your doctor may recommend medications to:

  • The treatment of the symptoms, for example, with antihistamines
  • Reduce acid in the stomach and discomfort in your digestive system
  • Counteract the effects of the substances released by mast cells, for example with corticosteroids
  • Inhibit the KIT of genes to reduce the production of mast cells

A health professional can teach you how to give a epinephrine injection in the event that you have a severe allergic reaction when your mast cells are activated.

Chemotherapy

If you have aggressive systemic mastocytosis, systemic mastocytosis associated with another disorder of the blood or mast cell leukemia, can be treated with chemotherapy medicines to reduce the number of mast cells.

Stem cell transplantation

For people who have an advanced form of systemic mastocytosis is called mast cell leukemia, stem cell transplantation may be an option.

Regular monitoring

Your physician regularly monitors the status of your condition the use of samples of blood and urine. You may be able to make use of a starter kit to collect samples of blood and urine, while you are experiencing symptoms, that gives your doctor a better picture of how systemic mastocytosis affects your body. Regular measurement of the bone density can be monitored for problems such as osteoporosis.

Lifestyle and home remedies

Systemic mastocytosis can be a complex disease. Their understanding of their condition is critical for the continuous care and prevention of complications. Ask family or friends if they can help you monitor and take care of your condition. Here are some self-care tips:

  • Identify and avoid the triggers.
  • Treatment of allergic reactions. If your doctor recommends epinephrine, always carry a dose with you.
  • Follow your doctor recommended to the care and vigilance.
  • Wear a medical alert bracelet or necklace, or wear a medical identification card that you have systemic mastocytosis. Ask your doctor to give you information for health professionals that you can carry with you in case you need emergency care.

Coping and support

Care of a life-long disorder, such as systemic mastocytosis can be stressful and tiring. Consider the following strategies:

  • Learn about the disorder. Learn as much as you can about systemic mastocytosis. Then you can make the best decisions and to be an advocate for yourself. To help the members of your family and friends to understand the disease, the care and the safety precautions you should take.
  • To find a team of trusted professionals. You will have to make important decisions about care. Medical centers with the expertise of the teams can offer information about the systemic mastocytosis, as well as advice and support, and can help you manage your care.
  • Search for other types of support. Talking with people who are dealing with similar issues can provide information and emotional support. Ask your doctor about support groups and resources in your community. If you do not feel comfortable in a support group, your doctor may be able to put you in contact with someone who has dealt with systemic mastocytosis. Or you may be able to find an individual or support group online.
  • Ask for help from family and friends. To ask for or accept help from family and friends when you need. Take the time for their interests and activities. Counseling with a mental health professional can help with the adaptation and coping.

Preparing for your appointment

While you may initially consult your family doctor, he or she may refer you to a doctor who specializes in allergy and immunology (allergy specialist) or a doctor who specializes in blood disorders (hematologist).

Prepare and anticipate questions will help you make the most of your time with the doctor. Here's some information to help you prepare for your first appointment.

What you can do

Before your appointment, make a list that includes:

  • Symptoms, including when they started, and if anything it seems worse or better
  • The medical problems that you have had and their treatments
  • All the medications, vitamins, herbal supplements and dietary supplements that you take
  • Questions you want to ask the doctor

Ask a trusted family member or friend to join you for the appointment. Having someone who can offer emotional support and help to remember all the information.

Questions for your doctor may include:

  • What is likely causing my symptoms?
  • There are other possible causes of these symptoms?
  • What kinds of tests do I need?
  • You should see a specialist?

What to expect from your doctor

Your doctor may ask you questions such as:

  • What symptoms do you have?
  • When did the symptoms begin?
  • Do you have any allergies or have ever had an allergic reaction?
  • What triggers the allergy?
  • What seems to make your symptoms worse or better?
  • Have you been diagnosed or treated for any other medical condition?

Your doctor will ask additional questions based on your responses, symptoms, and needs. After obtaining detailed information about the symptoms and the medical history of your family, your doctor may order tests to help with diagnosis and treatment planning.

Symptoms and treatment of Systemic mastocytosis