Mastocytosis: Definition, Types And Diagnosis
Mastocytosis is classified as rare diseases, which means that one person suffers from it for every 2 000 who do not have it. It represents a medical challenge, especially since it is very difficult to diagnose.
One of the big problems with mastocytosis is that there are great difficulties in diagnosing it. This is because it has a very varied symptomatology and, therefore, it is not easy to identify it. In general, it is only achieved when it reaches a doctor who specializes in this type of pathology.
Mastocytosis belongs to the group of rare diseases. So not only must the diagnostic barrier be overcome, but also the patient has to face the limitations that science has to understand and treat it. In fact, it can be incurable.
What is mastocytosis?
The name of mastocytosis is given to a group of rare and infrequent diseases, whose common characteristic is that they come from an abnormality of the mast cells. These are cells that originate in the bone marrow. From there they pass to other tissues and participate in allergies and inflammations, as well as in the performance of the immune system.
In mastocytosis there is an abnormal increase in mast cells. This causes affections to different organs and, especially, to the skin. The same bone marrow, bones, gastrointestinal tract, liver, and spleen can also be affected.
Mast cells, in fact, are part of the immune system. They are present in many areas of the body: skin, intestinal membrane and lungs. These cells produce histamine; when the substance accumulates it generates symptoms.
Mast cells also release other substances, such as heparin, leukotrienes, and various inflammatory cytokines. They contribute to insidious symptoms, including digestive problems and itching (generalized itching). If mastocytosis affects only the skin, it usually resolves without treatment. If it affects other organs it can be incurable.
Types of mastocytosis
In most cases, mastocytosis affects only the skin. If this occurs, it is referred to as cutaneous mastocytosis . When it affects other organs, it is a systemic mastocytosis . Let’s see the characteristics of each of these classifications.
Cutaneous mastocytosis
This type of mastocytosis is the most common in children. The usual thing is that they come to a medical consultation for any of these reasons:
- Uticaria pigmentosa: It is a disease that manifests itself with dark patches on the skin and causes itching.
- Maculopapular rash : It is a rash that does not have volume, that is, it does not rise above the surface of the skin. The affected person has discolored patches of skin and salmon or brown papules.
- Nodular lesions: nodules are generated that are sometimes very visible. Other times they can go unnoticed.
In a few cases, diffuse cutaneous mastocytosis occurs, without any abnormality to the naked eye. Likewise, there is a variant called mastocytoma , in which there is only a solitary lump in some area of the skin.
Systemic mastocytosis
Systemic mastocytosis is more common in adults and the most common is that in this case there is an accumulation of mast cells in the bone marrow. Also, there may be accumulations in the skin, lymph nodes, stomach, liver, intestine, and spleen.
All these organs continue to operate, but present some dysfunction. However, if too many mast cells accumulate in the bone marrow, the production of blood cells is reduced and serious disorders such as leukemia may develop.
This type of mastocytosis is classified into four subtypes according to its severity:
- Mild or indolent: there is no organ dysfunction and the disease has a good prognosis.
- Associated with other blood disorders: it affects the bone marrow and causes serious consequences over time.
- Aggressive: it has a higher level of severity and alters one or more organic functions.
- Mast cell leukemia: it is the most serious form and the one with the worst prognosis.
Causes and diagnosis
Science does not know exactly why mastocytosis occurs. However, some think that it is due to a genetic mutation, although this pathology is not inherited. So far, no hypothesis has been proven.
Mastocytosis causes vague symptoms, such as facial flushing, racing heartbeat, itching, abdominal cramps, lightheadedness, or loss of consciousness. The appearance of the signs is associated with alcohol intake, temperature changes, spicy foods and some medications.
The diagnosis is generally clinical. It is performed from an inspection of skin lesions that is usually corroborated with a skin biopsy. However, a bone marrow biopsy is also often required in adults.
Likewise, blood and urine tests, bone scans, and genetic tests are frequently carried out, both to rule out other problems and to reconfirm the diagnosis. Many of the children with this disease heal spontaneously before reaching puberty.
A rare and serious disease
The fact that some cases resolve on their own does not diminish the importance of mastocytosis. It is an infrequent pathology that, if suspected, requires specialized care that is trained in the management of complex cases.
Faced with nonspecific symptoms that do not heal by themselves or disappear over time, medical consultation is necessary. It can be the situation of intense itching that remains chronic over the months, unrelated to seasonal allergies or to a specific allergen.
