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Mastocytosis - Symptoms & Treatment

Mastocytosis is a rare disease in search of a cure. Mastocytosis is the term for a group of disorders caused by too many "mast cells". It is most common in children The most common form of mastocytosis (say "mass-toe-sigh-toe-sis") is a disease of the skin. In very rare cases, mastocytosis can affect other parts of the body, like the stomach, the intestines and the bone marrow. The presence of too many mast cells, or mastocytosis, can occur in two forms: cutaneous and systemic. The most common cutaneous (skin) form is also called urticaria pigmentosa, which occurs when mast cells infiltrate the skin. The more serious form of the disease is known as Systemic Mastocytosis (SM), meaning the mast cells are increased in other areas of the body.

Symptoms of Mastocytosis

The symptoms are different, depending on where the extra mast cells are.When too many mast cells exist in a person's body, the additional chemicals can cause bone pain, abdominal discomfort, nausea and vomiting, ulcers, diarrhea, skin lesions, and episodes of hypotension (very low blood pressure and faintness) or anaphylaxis (shock), the additional chemicals can cause.Chemicals released by mast cells cause changes in the immune system leading to typical allergy symptoms such as:

  • itching
  • abdominal cramping
  • and even anaphylaxis ( shock from allergic or immune causes)

When too many mast cells exist in a person's body, the additional chemicals can cause:

  • Skin lesions
  • Abdominal discomfort
  • Diarrhea
  • Stomach ulcers
  • Episodes of very low blood pressure (including shock ) and faintness
  • bone or muscle pain
  • Musculoskeletal pain
  • Nausea and vomiting
  • Ulcers

Causes of Mastocytosis

Mastocytosis is a disorder skin disease which affect both children and adults. Mastocytosis cause symptoms does not depend on single mastocytoma does. The exact cause of mastocytosis is unknown. Mastocytosis Mast cells work by releasing chemicals that attract white blood cells to areas of the body where they are needed. Researchers also think mast cells may have a role in the growth of blood vessels. Increased local concentrations of soluble mast cell growth factor in lesions of cutaneous mastocytosis are believed to stimulate mast cell proliferation, melanocyte proliferation, and melanin pigment production. The induction of melanocytes explains the hyperpigmentation that commonly is associated with cutaneous mast cell lesion.

Systemic mastocytosis causes itching and flushing. It can cause widespread reactions, which tend to be severe and include anaphylactoid reactions. Anaphylactoid reactions resemble anaphylactic reactions, but no allergen triggers them. Bone pain and abdominal pain are common. Peptic ulcers and chronic diarrhea may develop because the stomach produces too much histamine, which stimulates the production of stomach acid.

Treatment of Mastocytosis

There is currently no cure for mastocytosis. A number of medicines treat specific symptoms of mastocytosis :

  • Antihistamines block receptors targeted by histamine released from mast cells. Both H1 and H2 blockers may be helpful.
  • Leukotriene antagonists block receptors targeted by leukotrienes released from mast cells.
  • Mast cell stabilizers help prevent mast cells from releasing their chemical contents. Cromolyn Sodium Oral Solution (Gastrocrom® / Cromoglicate ) is the only medicine specifically approved by the U.S. FDA for the treatment of mastocytosis. Ketotien is available in Canada and Europe, but is only available in the U.S. as ophthamic drops (Zaditor®)
  • Proton pump inhibitors help reduce production of gastric acid, which is often increased in patients with mastocytosis. Excess gastric acid can harm the stomach, esophagus, and small intestine.
  • Epinephrine constricts blood vessels and opens airways to maintain adequate circulation and ventilation when excessive mast cell degranulation has caused Anaphylaxis .
  • Albuerol and other beta-2 agonists open airways which can constrict in the presence of histamine.
  • Corticosteroids can be used topically, inhaled, or systemically to reduce inflammation associated with mastocytosis.
  • Immunotherapy (Allergy Shots) may rarely be beneficial to select patients with mastocytosis. The benefits of the shots should be weighed against the substantially increased risk of severe and potentially fatal anaphylaxis triggered by the shots themselves.
  • Antidepressants are an important and often overlooked tool in the treatment of mastocytosis. The stress and physical discomfort of any chronic disease may increase the likelihood of a patient developing . Depression and other neurological symptoms have been noted in mastocytosis (see Rogers et al ). Some antidepressants such as doxepin are themselves potent antihistamines and can help relieve physical as well as cognitive symptoms.
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