Systemic Mastocytosis

Systemic Mastocytosis General Information

Mastocytosis represents a group of rare disorders that affect both adults and children and are usually caused by the presence of a big number of mastocytes (mast cells) and mast cells precursors in a person’s organism. Systemic Mastocytosis, often called SMCD or systemic mast cell disease is a type of medical condition that involves the internal organs and in addition, it can involve the skin. Mastocytes (mast cells) collect in different tissues and can easily cause damage to major organs, such as spleen, the gastrointestinal tract, bone marrow, liver or lymph nodes.

This disease is one of the most rare that has no specific incidence reported. It is believed that only two cases from a population of 400.000 may develop in a year. Because this is a progressive neoplastic disease, Systemic Mastocytosis has no effective treatment option that can cure it effectively, so the rates of mortality and morbidity are significantly high. Small children who are younger than two years (in 60% of the patients) and the children who have between two and fourteen years old (in less than 15% of the cases) are more prone to develop this mast cell disorder. This medical condition must be treated carefully and discovered in time. This is why patients should be well informed in what concerns the most important aspects of Systemic Mastocytosis. If you have questions, we advise you to contact your health care provider.

Systemic Mastocytosis Symptoms

Systemic Mastocytosis has some specific signs and symptoms that help the doctors differentiate it from other similar medical disorders. Usually, the manifestations of any disease depend a lot on the stage and on the patient’s overall health status, sex and age. We will offer you a list of the most encountered sings and symptoms that are experienced by almost all the patients. Our list may not be complete due to the fact that our immune system responds in a different way when it is attacked by various agents. The persons diagnosed with Systemic Mastocytosis have signs and symptoms related to involvement of the gastrointestinal system, immune system, skin and hematopoietic system. Sometimes, mast cells release some chemical substances that cause damage to the patient’s immune system, leading to certain typical allergic manifestations, for example: abdominal cramping, itching, sneezing, headaches, tiredness and shock from an immune or allergic cause, called anaphylaxis.

If the mast cells are too numerous in the person’s organism, the additional chemical substances can lead to one or more of the following symptoms: nausea and vomiting, faintness, skin lesions, muscle pain, episodes of low pressure of the blood, abdominal discomfort, bone pain and eventually, shock. Signs of mild anemia can be noticed in some patients, more commonly pallor. If the skin is involved, the patients may accuse urticaria, symptoms of pruritus or flushing. If certain organs are involved, splenomegaly, hepatomegaly or lymphadenopathy may result in some rarer cases. Systemic Mastocytosis is often associated with hematological disorders: monoclonal gammopathy, Castleman disease or hairy cell leukemia.

Systemic Mastocytosis Treatment

People who are diagnosed with Systemic Mastocytosis must inform their doctor as soon as possible about the most efficient and recommended treatment option. In this last chapter of our presentation we will offer you some pieces of information about the most important and used therapies for this type of medical condition. We strongly advise you to contact your health care provider or any other trained specialist in the domain after you start experiencing the signs and symptoms that we have mentioned before and are specific for Systemic Mastocytosis. Your doctor may recommend you to consult with a hematologist, immunologist, gastroenterologist or dermatologist. An early diagnosis, followed immediately by an adequate treatment option increases the chances of a full recovery and decreases the possibility of developing certain complications that could endanger the patient’s life.

During the medical examination you will be asked about what your signs and symptoms are and about your personal medical history. If the skin is involved, a physical exam may be appropriate. In order to confirm the diagnosis and to rule out other possible similar condition, the health care provider must perform a biopsy (microscopic analysis of a small skin sample). Also, to confirm the diagnosis of Systemic Mastocytosis, doctors can take a biopsy from other different organs, for example liver, bone marrow, spleen etc. Additional blood and urine tests are done to determine the proteins and mast cells chemicals levels. After the diagnosis is set, the health professionals can proceed with the proper treatment option.

The main aim of a therapy for Systemic Mastocytosis is to relieve symptoms and to resolve them by decreasing the levels of mast cells because this medical condition has no efficient cure. Some of the most common treatment modalities include one or more of the following: the management of related symptoms and of anaphylaxis, management intestinal malabsorption and management of flushing and pruritus. In order to cure acute anaphylaxis, specialists administrate Epinephrine and H1 or H2 blockers. Against bone pain, ascites or malabsorption health care providers will prescribe corticosteroids, especially Prednisone, administrated for ten to twenty days, 30-50 mg/day. Cromolyn can also help to improve the symptoms.

If patients do not respond to these to treatment options, they will receive a trail of Interferon alfa-2b. Pruritus and flushing are managed with certain classic H1 antagonists, for example Hydroxyzine or Diphenhydramine. Ketotifen or other mast cells stabilizers are sometimes used. If vascular collapse can not be stopped or prevented with H1 or H2 receptor blockers, the main choice is Aspirin. The signs and symptoms caused by Systemic Mastocytosis can also be treated with leukotrene antagonists, for example Montelukast or Zafirlukast. All these medications must be taken as the doctor ordered and overdosing or losing a dose must be strictly avoided. Otherwise, you may develop severe complications that could threaten your life and interfere in the process of healing, delaying the results.