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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. If this is the case, individuals are able to apply for Social Security disability insurance from the Social Security Administration (SSA). Unfortunately, it may be challenging to receive benefits if the individual can’t prove that their symptoms prohibit them from working.

What is systemic mastocytosis?

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 reaction.

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 hystamine 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 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 a mild form of treatment to ease allergic reactions if the histamine chemical triggered.

For individuals with a more sever 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. 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.

Getting Social Security disability insurance (SSDI) for systemic mastocytosis

Mast cell leukemia and mast cell sarcoma are the only two types of systemic mastocytosis that the SSA classifies as diseases that meet the Social Security’s standards for disability benefits. The SSA has a long list of rare disorders, diseases, conditions, and cancers that it considers eligible for “compassionate allowances”. This means that if an applicant has a disorder, disease, condition, or cancer that is on this list, they will quickly be approved for SSDI benefits. This cuts down the wait time for these individuals.

Unfortunately, if an applicant doesn’t have either of these rare disorders, it can prove to be extremely difficult to receive SSDI benefits. Applicants will have to prove that they’re eligible by proving that their symptoms inhibit them from keeping a job. While it’s not impossible, it can be difficult. Applicants will need to have a solid medical record that has notes of all of the symptoms the applicant experienced, the diagnosis from the doctor, and treatment options the doctor has prescribed and the applicant has taken. In addition, the SSA will ask the applicant to try different job positions that they believe take less of a tole on the applicant than the job they were previously doing before determining whether or not the applicant is eligible for benefits. If the applicant still cannot perform the job the SSA recommended, they may grant benefits at that point. However, there are still chances that the SSA denies the application.

How we can help

If an individual doesn’t readily meet the SSA’s requirement through their Compassionate Allowances program or if their disability is not specifically listed in the SSA’s Blue Book of disabilities, it can prove to be extremely difficult for an individual to go through this process alone. Our experienced disability lawyers at Osterhout Berger Disability Law firm know exactly what it takes to submit an application to the SSA. They know how to handle cases where an individual’s disability isn’t explicitly listed on the SSA’s website and they know what paperwork to request from the appropriate people.

There are several ways in which the team at Osterhout Berger Disability Law can help you receive the benefit you deserve. We help individuals who need to…

If you are facing one of these situations, please do not hesitate in reaching out. Our team of experienced attorneys are here to help, and your consultation is free.

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Learn More

Learn more about Social Security Disability and Long Term Disability Insurance, as well as appealing denials and how an attorney can help. These resources will cover the basics: