Learn The BasicsSystemic mastocytosis (SM) is a disease that can affect many organs and systems in the body, so several different medical specialists must work together to provide patients with the best possible care.
These medical specialists may include a pathologist, a geneticist, an allergist/immunologist and a hematologist. Other specialists may include a gastroenterologist and a neurologist.
Clinicians such as nurses and pharmacists also play a key role in the care of patients with SM. Collaboration between these multidisciplinary healthcare professionals is essential for the best patient outcomes.
The pathologist
The pathologist, a healthcare professional who studies the cause and nature of a disease, plays a key role in the diagnosis of SM, which is characterized by the accumulation of spindle-shaped mast cells in the bone marrow.
The pathologist analyses the bone marrow biopsy obtained from a patient and can recognize these spindle-shaped mast cells, thereby diagnosing SM.
The geneticist
SM is caused by a mutation in the KIT gene in most cases.
A geneticist can conduct genetic testing and look for mutations in the KIT gene, thereby confirming a diagnosis of SM. The most common KIT mutation leading to SM is the D816V mutation.
The allergist and immunologist
SM can be triggered by allergens such as the environment, certain foods, certain medications or insect venom. These can lead to anaphylaxis, which can be life-threatening.
An allergist/immunologist is a doctor specializing in conditions affecting the immune system. They can recognize the signs and symptoms of SM and refer the patient to a hematologist if necessary.
The hematologist
Patients with SM are typically cared for by a hematologist, a healthcare professional who specializes in diseases affecting the blood, bone marrow and lymphatic systems.
The hematologist also plays a key role in monitoring and treating any hematological diseases associated with SM, such as myelodysplastic syndrome, myeloproliferative disorder and acute myeloid leukemia.
The gastroenterologist
In some cases of SM, mast cells accumulate in the digestive tract, causing symptoms such as reflux, abdominal pain, bloating, diarrhea, nausea or vomiting.
These signs and symptoms are treated by a gastroenterologist, a doctor specializing in conditions affecting the gastrointestinal tract, including the esophagus, stomach and intestines.
The neurologist
In rare cases, mast cells may accumulate in the central nervous system, including the brain. In such cases, patients may experience symptoms like anxiety, depression, mood swings, concentration and increased fatigue.
These patients are usually seen by a neurologist, a doctor specializing in diagnosing, treating and managing disorders of the brain and nervous system.
Nurses and pharmacists
Almost half of patients with SM experience life-threatening anaphylaxis.
Nurses and pharmacists play an important role in identifying and treating anaphylaxis by administering epinephrine.
A pharmacist will often educate the patient about the importance of epinephrine, which should be immediately administered in case of anaphylaxis. They also need to ensure no drug interactions occur, verify drug dosing and report any concerns to nurses.
The nurse should monitor the compliance of the patient to medication and report any effects to the patient’s doctors.
