Mastocytosis: How to recognize the symptoms and treat this rare disease

Mastocytosis is an abnormal accumulation of mast cells in the skin that can cause reddish-purple lesions. It is rare, but when it occurs it is usually chronic. Mast cells, which play a key role in the immune system's response to parasites and some bacteria, are cells that originate in the bone marrow and are part of the immune system. They are abundant in the skin, lungs, and mucous membranes of the airways and digestive tract.

Mast cells contain chemicals such as:

- Histamine, a substance involved in allergic reactions and the production of gastric acid.

- Heparin, a natural anticoagulant found in the body's tissues.

- Cytosines, nitrogenous bases that form part of nucleic acids (DNA and RNA).

- Growth factors, a set of substances, normally proteins, which together with hormones and neurotransmitters form part of intercellular communication.

Causes of mastocytosis Possible genetic mutation

The cause of mastocytosis is generally unknown. It is actually a group of disorders caused by an unusual buildup of mast cells in the skin over a period of years.

Mastocytosis can affect the skin (cutaneous mastocytosis) or the skin, stomach, intestine, liver, spleen, lymph nodes, and bone marrow (systemic mastocytosis) resulting in some organ dysfunction. Systemic mastocytosis has another form: aggressive systemic mastocytosis, which progresses rapidly and is associated with organ damage. Other forms of systemic mastocytosis include mast cell leukemia and mast cell sarcoma.

Symptoms of mastocytosis Itching and redness

Signs that may indicate the presence of mastocytosis are:

- Itching (pruritus).

- Redness.

- General malaise.

- Blisters.

- Red-purple lesions.

- Abdominal pain.

- Diarrhea.

- Malabsorption.

- Difficulty concentrating.

- Anaphylaxis .

- Osteoporosis.

Diagnosis of mastocytosis Physical exam, tissue sample and blood tests

Diagnosis of mastocytosis may be delayed because it is a rare disease. If a case is suspected, the diagnosis is usually confirmed by a physical examination, analysis of a tissue sample showing the level of mast cells, and a blood test confirming the presence of chemicals related to mast cells.

Treatment and medication for mastocytosis Symptom relief

Symptom relief is the gold standard. In the case of cutaneous mastocytosis, antihistamines are prescribed to relieve itching in children. In adults, ultraviolet light can be applied, which can only be done in specialized centers and under medical supervision, and corticosteroid creams.

Systemic mastocytosis has no cure, so treatment consists of controlling symptoms with H1 and H2 histamine blocking drugs. Oral cromolyn helps relieve bone pain and digestive problems, and aspirin reduces redness, although it cannot be given to children and sometimes worsens other symptoms.

Oral corticosteroids may also be administered, but not beyond 3 to 4 weeks.

Prevention of mastocytosis Without prevention

Mastocytosis cannot be prevented, but patients who suffer from it must pay attention to a series of recommendations to prevent symptoms from worsening. These include:

- Avoid strong temperature contrasts.

- Avoid pressure on the skin or intense rubbing. Loose clothing should be worn.

- Avoid stress or anxiety .

- Taking certain medications, for example, to relieve pain.

In the case of systemic mastocytosis, the doctor may recommend always having on hand and in good condition an auto-injectable syringe with adrenaline in case of possible anaphylaxis.