Comments from TMS Regarding the Diagnosis You List in the AWaRDS Survey

The AWaRDS survey asks respondents to list any rare disease diagnoses in a write-in text box. Information from the survey researchers provides a link to the website for the Genetic and Rare Diseases Information Center (GARD) at the National Institutes of Health for a list of rare diseases. Not all terminology used for forms of mast cell disorders can be found on this list. For the purpose of this survey, you may want to consider using one of the terms in the outline below, if applicable for your diagnosis. Based on the categories listed on the GARD Information Center, you could choose to list your specific disorder (e.g., “Indolent Systemic Mastocytosis”), or you could list a broader category (e.g., “Systemic Mastocytosis” or “Mastocytosis”), depending on your preference. For the purpose of this survey, TMS suggests that a broader diagnosis category be listed, such as “Cutaneous Mastocytosis”, “Systemic Mastocytosis” or “Mast Cell Activation Syndrome”.

  • Mast Cell Activation Syndrome
    • Monoclonal Mast Cell Activation Syndrome
  • Mastocytosis
    • Cutaneous Mastocytosis
      • Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis
      • Diffuse cutaneous mastocytosis
      • Telangiectasia Macularis Eruptive Perstans
      • Cutaneous mastocytoma
    • Systemic Mastocytosis
      • Indolent Systemic Mastocytosis
        • Bone Marrow Mastocytosis
      • Smoldering Systemic Mastocytosis
      • Systemic Mastocytosis with an Associated Hematologic Neoplasm (SM-AHN/SM-AHNMD)
      • Aggressive Systemic Mastocytosis
      • Mast Cell Leukemia
    • Mast Cell Sarcoma

An additional note about “Urticaria Pigmentosa/Maculopapular Cutaneous Mastocytosis” (UP/MPCM) related to this survey: The GARD list notes that this particular category is not rare.  However, the broader category of “Cutaneous Mastocytosis” does not have a similar note, which may lead to some confusion.  The AWaRDS survey is restricted to those who are an adult or the age of majority in their state. As many of those with a diagnosis of UP/MPCM are children, adults with this diagnosis should not be restricted from responding to the survey.