Advanced systemic mastocytosis is a progressive disorder that causes the atypical buildup of mast cells in different organs in the body. Treatment aims to slow the progression of the condition and relieve symptoms.
Some symptoms of advanced systemic mastocytosis include headache, diarrhea, hypotension, and more. Doctors may order various tests to diagnose the condition and advise on a suitable treatment plan.
Read on to learn more about advanced systemic mastocytosis, including the symptoms, causes, and more.
Advanced systemic mastocytosis is an advanced form of the condition that may cause different signs and symptoms, including:
- hypotension or low blood pressure
- peptic ulcer disease
- rash-like skin lesions
- lymphadenopathy, or swollen lymph nodes
- hepatosplenomegaly, or an enlarged liver and spleen
- dysplasia, or the atypical growth of cells
- marked cytopenia, or a reduced number of blood cells
- osteolysis, or bone degeneration
- ascites, where fluid collects in the abdomen
The American Academy of Allergy Asthma and Immunology (AAAAI) notes that people may experience multiple symptoms as the condition progresses, affecting different organs. Without early diagnosis and treatment, advanced systemic mastocytosis may lead to tissue damage and organ failure, affecting life expectancy.
Genetic mutation of the KIT genes plays a role in the development of advanced systemic mastocytosis, leading to the atypical buildup of mast cells in one or more tissues.
The KIT genes control chemical signaling pathways that instruct the growth of different cells in the body, including mast cells. Mast cells prevent foreign body invasion through inflammatory responses.
Certain factors may activate the mast cells. Possible triggers include:
- minor injury
- temperature changes
- insect stings
- some vaccines
- anxiety or stress
- certain medications, such as opioids, aspirin, and nonsteroidal anti-inflammatory drugs
A doctor may perform several examinations and tests to help diagnose advanced systemic mastocytosis. These include the following:
- Blood test: Complete blood count and elevated tryptase levels can help differentiate the variants of advanced systemic mastocytosis. Tryptase is an enzyme that primarily comes from mast cells.
- Bone marrow biopsy: Using a long needle, the doctor will remove a sample of bone marrow tissue for further testing. A person will receive a local anesthetic before this procedure.
- Imaging tests: Imaging tests, such as ultrasounds, can help the doctor view internal organs and tissues clearly. Additionally, dual-energy X-ray absorptiometry scans can help assess bone density.
A person’s doctor can advise on what tests they order and what they involve.
Treatment for advanced systemic mastocytosis aims to slow the progression of the condition and relieve symptoms. What symptoms a person experiences will help determine their treatment.
Examples of possible treatments for symptoms
- antihistamines for symptoms such as abdominal pain and diarrhea
- oral cromolyn sodium for gastrointestinal symptoms
- pamidronate and low dose interferon-alfa for osteoporosis
Medications a doctor may recommend for the aggressive form of systemic mastocytosis include:
- tyrosine kinase inhibitors
A person’s doctor can advise on what treatment they recommend and can help them create a treatment plan to manage their symptoms.
Possible complications of systemic mastocytosis
- polycythemia vera, which is an increase of red blood cells in the body
- Castleman disease, a condition that involves noncancerous enlargement of lymph node tissue
- monoclonal gammopathy
A person’s doctor can advise on ways they can manage the condition and reduce the risk of complications.
Here are answers to common questions about systemic mastocytosis.
What is the prognosis for advanced systemic mastocytosis?
Without treatment, people with advanced systemic mastocytosis may have a negative outlook. A 2021 study examining the response criteria of advanced systemic mastocytosis found that administering KIT inhibitors such as avapritinib and midostaurin improved this outlook.
It is important to note that each individual’s outlook will differ. A person’s doctor can provide more information about their outlook.
What is the life expectancy of someone with aggressive systemic mastocytosis?
People with aggressive systemic mastocytosis may have a lower life expectancy than those without the condition or individuals with a less aggressive form of it. However, as with the outlook in general, life expectancy can vary from person to person.
Advanced systemic mastocytosis is a progressive disorder that causes the atypical buildup of mast cells in different organs in the body.
People with advanced systemic mastocytosis may have a negative outlook and lower life expectancy without treatment. However, treatment may offer benefits to those with the condition. Treatment for advanced systemic mastocytosis can help slow down the progression of the condition and help with managing symptoms.
It is best to contact a doctor as soon as there are concerns about advanced systemic mastocytosis. They can order tests to confirm the diagnosis and advise on suitable treatments.