What is Systemic Mastocytosis?
Mast cells are meant to protect the body from disease and help heal wounds by releasing histamine and leukotrienes. If an excessive amount of mast cells are released into the body, it can result in a disorder called systemic mastocytosis. This disorder affects different body systems including the organs. Since this disorder affects various body systems, it can result in failure of those systems. Depending on the symptoms that are presented through this disorder, it can affect an individual’s ability to perform various tasks. Depending on the severity, the inability to perform various tasks can lead to the inability to work and receive a steady stream of income.
Systemic mastocytosis, or systemic mast cell disease, is a hematologic disorder where mast cells (a type of white blood cell) are abnormally high in the skin, bone marrow, and internal organs such as the liver, spleen, lymph nodes, and gastrointestinal tract. Mast cells are part of the immune system and are meant to help fight illnesses and heal wounds. When an abnormally high amount of mast cells are found in the body, the result can lead to the release of certain chemicals that cause adverse reactions.
One example is the release of a chemical called histamine. The release of this chemical can cause an allergic reaction that may present itself as hives or cause itchy skin. If the reaction is severe enough, it can manifest as anaphylaxis that can become life threatening if it’s not treated right away. It can be treated with an epinephrine auto-injector, which will relieve the symptoms almost instantaneously. While this example can be readily treated, not all instances of systemic mastocytosis can be treated this easily.
The cause of systemic mastocytosis is typically due to changes in the KIT gene (KIT d816v), which is a gene that helps develop a protein that’s responsible for how cells grow. This gene is also partially responsible for the development of mast cells. This mutation happens randomly and doesn’t tend to be hereditary. While this change can happen at any point in life, most diagnoses occur in individuals in their 40s and 50s. Doctors are still not clear what causes the mutation and believe it happens randomly.
Symptoms of Systemic Mastocytosis
While symptoms depend on the type of systemic mastocytosis an individual has, there are some commonalities that individuals may experience. One of the most common indications that a person has this disorder is through the appearance of spots that look like freckles (called urticaria pigmentosa) on the skin of the inner thighs or stomach. These spots can turn into hives and become itchy if a person scratches or is exposed to a sudden changes in temperature (mainly heat). Other symptoms include flushing, headache, shortness of breath, nausea or vomiting, low blood pressure, diarrhea, abdominal pain, musculoskeletal pain, or anaphylaxis.
Types of Systemic Mastocytosis
There are several types of systemic diseases that range from mild to severe. These include:
- Cutaneous mastocytosis: This type of mastocytosis mainly affects the skin. Urticaria pigmentosa, small, brown, flat freckles, is the main sign for this disorder. These spots can get itchy when triggered and redden if scratched or irritated. This disorder is mainly diagnosed in children and range from mild to severe. Some individuals only suffer from itchiness of the skin or flushing while others suffer from hypotension, gastrointestinal bleeding, diarrhea, and anaphylactic shock.
- Indolent systemic mastocytosis: This type of mastocytosis is defined by an accumulation of mast cells in organs other than the skin. The most common organ it affects other than the skin is the bone marrow. This type is mainly diagnosed in adult patients, but rare cases have been found in children. Skin lesions and an enlarged liver or spleen are often seen with individuals diagnosed with this type of disorder. The gastrointestinal tract can also be affected. Some people experience a slow progression of this disorder while it can progress quickly in others.
- Systemic smoldering mastocytosis: This type of mastocytosis is more severe than indolent systemic mastocytosis. High serum tryptase levels are found in the blood cells and the bone marrow will often consist of over 30% of mast cells. It can also be characterized by the splenomegaly, or spleen, having abnormalities in the production of other blood cells.
- Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (SM-AHNMD): This is a more severe type of mastocytosis is one that is diagnosed when a patient presents with systemic mastocytosis and an associated clonal hematological non-mast cell lineage disease. It stands apart from the other types because it doesn’t seem to present itself on the skin. SM-AHNMD symptoms are hard to pinpoint because they seem to be tied to hematological abnormalities.
- Aggressive systemic mastocytosis: This type of mastocytosis is diagnosed when mast cells completely invade the organs and cause impairment or complete loss of function to the affected organs. The bone marrow, bone, liver, and gut are the most affected organs with this disorder.
- Mast cell leukemia: This is an extremely aggressive type of mastocytosis, but it is considered a rare disease. It is often diagnosed as a hematological malignancy since the mast cell count is greater than 10%. It can also be characterized by the bone marrow drawing in more than 20% of immature mast cells.
- Mast cell sarcoma: This is another aggressive and rare type of mastocytosis. This type is characterized by the presence of a single tumor that is made up of abnormal mast cells covering body tissue.
Diagnosis of systemic mastocytosis can be done in a number of ways. Doctors will need to do a full workup of the patient to check several factors. If the skin appears to be affected, doctors will conduct a skin biopsy and test for abnormal mast cells. Doctors can also conduct a bone marrow biopsy to test for an abnormal count of mast cells. Blood tests can also be conducted to check the levels of mast cell mediators, such as histamine and leukotrienes. A genetic test can also be conducted to see if the patient has the KIT mutation that is known to cause these mast cell disorders. All of these tests can be done together to provide a definite diagnosis of the disorder.
Treatment for Systemic Mastocytosis
Unfortunately, there isn’t a cure for any of these systemic diseases. Treatment options will often depend on the type of mastocytosis along with the severity of the symptoms. If an individual has a type with skin involvement and the symptoms seem to be mild, a doctor may treat it with a topical steroid cream. Antihistamines can also be used as a mild form of treatment to ease allergic reactions if the histamine chemical is triggered.
For individuals with a more severe form, doctors may prescribe FDA-approved medications that were created to specifically treat mastocytosis. Cromolyn sodium is known to generally treat mastocytosis and can be taken orally, and avapritinib has been FDA-approved for advanced systemic mastocytosis. Midostaurin is for more severe or aggressive forms of mastocytosis like those with aggressive systemic mastocytosis, systemic mastocytosis with associated hematological neoplasm, or mast cell leukemia.
Establishing entitlement to disability benefits based on your medical condition
In most cases, establishing that our client actually has the medical diagnosis in question is not a problem. What we need to prove, to show that your impairment is disabling, is that your condition has not improved enough with treatment that you can work on a regular and continuous basis. To do this, there are a few things you can do, and OBD will do, to establish the medical basis for your disability.
What you need to do:
- Maintain regular treatment for all your medical impairments;
- Follow your doctor’s advice or make sure your doctor’s records reflect the reasons why you didn’t (such as, your reasons for declining a surgery, or lack of insurance covering a recommendation by your doctor – this includes following all directions for medical testing or referrals to other doctors);
- Consider keeping a personal diary or journal documenting the days you had your most significant symptoms, or “bad days” (there are numerous apps you can download on your phone for this purpose); and
- Keep OBD up-to-date on treatment, especially if you have had testing or are seeing a new doctor.
The above is necessary to build your case, and OBD ensures that this evidence is obtained in a timely fashion and submitted for consideration. In some cases it may be appropriate to seek medical opinions from your doctors or arrange for specialized exams or reports that assist in presenting your case; OBD can facilitate these requests. We will always be sure to submit arguments on your behalf based on the evidence and the applicable law to show that your medical impairment(s) are disabling, and we are always available to explain procedures, to advise about the status of your case, and prepare you for any hearing(s) you will have to attend, if any.
Having represented a combined 60,000 disability claimants OBD has seen it all, and we bring that experience and dedication to bear on every one of our clients’ cases. We take it personally. And, we will not make this experience harder for you by being difficult to get hold of, or by not explaining everything that is going on to you.
