Systemic mastocytosis is a little-known and rare disease. It causes an accumulation of cells in the bone marrow and can cause around twenty different symptoms.
- It takes seven years, on average, to diagnose systemic mastocytosis.
- This disease causes an abnormal accumulation of mast cells, bone marrow cells.
- The symptoms are varied: skin lesions, fatigue, digestive disorders, bone pain, depression, etc.
Systemic mastocytosis is a rare disease. According to data reported by the MaRIH, the health sector for rare immuno-hematological diseases, it affects on average 2 people out of 300,000 each year in France. It is difficult to diagnose because of its symptoms which can be confused with other pathologies. Friday, October 20, a world systemic mastocytosis day is organized to raise awareness of this pathology.
What is systemic mastocytosis?
The name of this pathology comes from mast cells, cells of the bone marrow. In the case of this disease, they accumulate abnormally and move to other places in the body: the skin mainly, but it can also be other organs such as the liver or the spleen.
Systemic mastocytosis is characterized by damage to the skin and at least one other organ. It can be painless in the vast majority of cases: the disease then progresses slowly and often with a good prognosis, but it can become severe and significantly degrade the quality of life. It takes on average seven years to diagnose it.
Systemic mastocytosis includes a second stage, called advanced. This more severe form of the disease affects less than 10% of patients and appears three years on average after the first symptoms appear. This form of the disease is associated with a poor prognosis: on average, patients survive between two and four years after diagnosis.
Systemic mastocytosis: symptoms that are sometimes complicated to identify
In its most common form, systemic mastocytosis is complicated for doctors to diagnose, because its symptoms can be easily confused with those of other pathologies: headaches, diarrhea, fatigue, itching, etc. In total, around twenty symptoms are associated with this disease. “Patients can find themselves making multiple visits to specialists who end up saying it’s not this or that disease, but synthesizing all that is not easy and we can have a diagnostic error.”underlines Dr Julien Rossignol, doctor at the national reference center for mastocytosis, in a video.
He explains that the disease causes “full of acute symptoms that mimic allergies.” “That’s why patients often say to themselves ‘I’m allergic'”, he notes. However, an allergist will not diagnose an allergy without necessarily identifying mastocytosis. It can also cause symptoms similar to osteoporosis. “It can be difficult for healthcare professionals to spot the illness behind these symptoms.”he continues.
Skin lesions, one of the main symptoms of systemic mastocytosis
Skin lesions are one of the common signs of the disease. “They can be fixed over the long term., adds the specialist. According to him, these lesions are well known to specialists in dermatology, but sometimes they are benign and not very extensive, which may not cause particular concern in the patient, who then delays consulting. The sometimes difficult access to a specialist in dermatology can also slow down screening.
Systemic mastocytosis: the hope of a specialist
The diagnosis is then made using a bone marrow biopsy to identify the D816V mutation on the c-Kit gene, characteristic of the disease. But after several years without understanding the cause of the symptoms, patients are often severely affected. Fatigue, digestive or neuropsychological disorders can have significant consequences on their social, professional and family life.
However, Dr Julien Rossignol wants to be reassuring in the face of patients’ concerns. “Life expectancy is normal in the vast majority of patients, recalls this specialist. The evolutions towards aggressive forms are exceptional.” Also, drugs are currently under development and should further improve the quality of life of those affected. “I am convinced that care will improve in the years to come.”he concludes.
