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Mastocytosis & Mast Cell Disorders Definition Signs & Symptoms Diagnosis Treatment Symptom Management Related Conditions FAQ
Diagnosing these disorders is too often a long, complicated process involving many areas of specialty medicine. Many patients have suffered declining health for up to 10 years or longer before they were finally diagnosed. Those with skin or hematological involvement have the best chance of their physicians being able to definitively medically prove their illness. Anaphylaxis is more common; however, even anaphylaxis is often unrecognized or under-treated, but as a symptom on it's own, it is easier to diagnose.

There are standard tests for mastocytosis. For mast cell activation and idiopathic anaphylaxis patients, the path to diagnosis involves many tests, many of which may be inconclusive. For all patients with mastocytosis, mast cell activation syndrome, or idiopathic anaphylaxis, none of the current diagnostic tests are reliable for every patient.

Some of these tests often return false-negatives. Some tests return positives outside the normal range, yet the patient experiences few symptoms and enjoys a normal unrestricted life. Many patients have completely normal test results (eg. Tryptase, Urine, Bone marrow) yet they are disabled by these disorders. The largest discrepancies reported by patients are those with positive skin biopsy of a cutaneous form of mastocytosis, yet negative test results proving systemic involvement; however, the patients exhibit all the classic symptoms of systemic mastocytosis. Physicians and patients worldwide are aware of this. The current diagnostic tests need refinement, and new tests need to be discovered, which are more reliable and definitive for these disorders. Researchers worldwide are constantly working to address these issues.

Listed below are the initial standard diagnostic tests. Some are less reliable than others, some are used as part of the puzzle of test results to determine the likelihood that a patient has mastocytosis, MCAS or IA, or if it's something else entirely:- Additional tests:-
  • Histamine and Heparin tests
  • Complete Blood Count & Chemistry Panel tests with specific attention on the following:-
    • Liver function
    • Electrolytes
    • Glucose
    • Lipid panel
    • Vitamin levels - Especially: Calcium, D, B12, Iron & Ferritin
    • Red and White blood cell counts
    • Immunoglobulins (IgE,IgA,etc.)
    • ANA (Antinuclear antibodies)
    • Erythrocyte Sedimentation Rate
    • C-Reactive Protein
    • Serotonin
    • Chromogranin A
  • Pulmonary function tests
  • Ultrasound, X-ray, CT scan and/or MRI of abdomen, liver, spleen, brain
  • Celiac test
  • Adrenal function test
  • Thyroid function tests (TSH, T3 and T4)
  • 5-HIAA Urine test
  • EKG
  • Stress tests
  • Upper GI Endoscopy
  • Colonoscopy
  • Vision/Eye exams - including imaging of eyes
Physicians may request further tests depending upon your individual case history and presentation of signs and symptoms. It is imperative for patients to give a full history of their health, their current symptoms, any activities they pursue, special foods or drinks they've consumed, travel or foreign country visits, unusual bites on skin, etc. If you know the symptoms you are experiencing are not "normal" for you personally throughout your life, emphasize that point to your physicians. Do not self-diagnose or suggest diagnoses as that may adversely impact your physician's ability to recognize the many signs and symptoms of these mast cell disorders.

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