Mastocytosis

What is mastocytosis? Everything about the different types it presents, its causes, symptoms, and treatments.

Symptoms and Causes

Mastocytosis causes the proliferation of mast cells, a type of white blood cell found in the body's connective tissues that help defend the body against allergies or inflammation. When they become excessively activated, they can infiltrate the skin and other organs.

Based on its characteristics, mastocytosis is divided into two types:

Cutaneous mastocytosis: Common in children. It usually presents as urticaria or exanthema, although in some cases, it appears as nodular lesions or plaques.
Diffuse cutaneous mastocytosis: A very rare subtype in which mast cells infiltrate the skin but do not present marks or rashes.
Mastocytoma: Rare. It consists of a large, benign tumoral lesion.
Systemic mastocytosis: Typically occurs in adults. It affects multiple organs with high levels of mononuclear phagocytes (a type of immune cell), such as the skin, liver, bone marrow, lymph nodes, spleen, or gastrointestinal tract.
Indolent systemic mastocytosis: The most common form. It usually only affects the skin and is not severe.
Latent systemic mastocytosis: Uncommon. It develops slowly and accumulates mast cells in the viscera.
Aggressive systemic mastocytosis: Spreads to various organs, which may suffer damage over time.
Mast cell leukemia: As severe as it is rare. It produces an excess of abnormal mast cells in the bone marrow and blood, leading to organ dysfunction, such as in the liver or spleen.

Despite the fact that most of its cutaneous manifestations may cause confusion among the general population, mastocytosis is not a contagious disease.

Since it is considered a rare disease, affecting fewer than one in every two thousand people, diagnosis is often delayed. As a result, patients' quality of life is negatively impacted. However, in most cases, life expectancy is the same as that of the general population.

Symptoms

The symptoms of mastocytosis vary depending on the type of disease and the individual characteristics of each patient. The most common symptoms, caused by the release of histamine, leukotrienes, or tryptase, include:

Pruritus (itching or skin irritation).
Redness.
Pigmentary urticaria, with reddish or brown plaques.
Blisters.
General discomfort.
Anaphylaxis (severe allergic reactions).
Abdominal pain.
Diarrhea.
Malabsorption.
Nausea and vomiting.
Osteoporosis.
Swelling of lymph nodes.
Difficulty concentrating.
Depression.

Causes

The primary cause of mastocytosis is a mutation in the KIT gene on chromosome 4. This genetic alteration is spontaneous and has no hereditary origin. The triggers for mast cell activation vary and include:

Sudden temperature changes.
Strong pressure on the skin.
Skin irritation.
Alcohol consumption or spicy foods.
Stress or anxiety.
Certain medications.

Risk Factors

Since it is caused by a spontaneous genetic mutation, this disease can affect all types of individuals. In general, cutaneous mastocytosis is more common in children, while systemic mastocytosis is more frequently observed in adults.

Complications

Some of the most severe complications of mastocytosis include:

Severe allergic reactions that may lead to loss of consciousness.
Decreased bone density, increasing fracture risk.
Anemia or poor blood clotting.
Stomach ulcers.
Organ inflammation and insufficiency.

Prevention

Mastocytosis cannot be prevented.

What Doctor Treats Mastocytosis?

The diagnosis and treatment of mastocytosis require a multidisciplinary approach involving specialists in allergology, pediatrics, and dermatology.

Diagnosis

The diagnostic process for mastocytosis is often long and complex due to its low prevalence, the diversity of symptoms, and the heterogeneous nature of its different types.

Generally, the visual inspection of lesions and the study of the symptoms reported by the patient form the basis of the diagnosis. To confirm it, a skin biopsy is usually performed. In cases where it is necessary to determine the specific type of mastocytosis, a bone marrow biopsy is conducted.

Treatment

The treatment of mastocytosis focuses on alleviating symptoms and improving patients' quality of life, as there is no cure. The most effective treatments include: