Some medical specialists lack awareness of systemic mastocytosis (SM) in part because it is often associated with cardiological, neurological, gastrointestinal and neurological symptoms, according to a study recently published in the International Journal of Hematology and Oncology.
“Clearly education is critical to increase awareness of SM in providers and patients,” study authors said. “In this regard, using tryptaseTryptase A protein enzyme that is primarily produced by mast cells and stored in small pockets within the cells, known as granules. High levels of tryptase are a key indicator of SM. perhaps as a screening test [is advised] for patients who” may have symptoms or signs of SM, they added.
What is ATTR-CM?
Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is a rare progressive disease of the heart muscle that leads to congestive heart failure. It occurs when the transthyretin protein produced by the liver is unstable. Symptoms include fatigue; shortness of breath; irregular heart rate or palpitations; swelling of the legs, ankles and stomach; brain fog; wheezing; and dizziness. It often goes underdiagnosed because of a lack of awareness and knowledge of the disease. There is currently no cure for ATTR-CM.
Hematology and allergy specialists tended to have good SM disease awareness, but other specialties, including neurology and dermatology, needed to increase their awareness of the disease, the authors said.
Read more about SM testing and diagnosis
“We believe that if its recognition is increased, diagnosis of SM from our country [Turkey] will be improved and symptoms affecting the other organs, especially nervous system will be evaluated more carefully by neurologists,” the authors said.
The authors retrospectively studied data from 22 patients with different SM subtypes, including indolent SMIndolent SM A subtype of nonadvanced SM caused by the abnormal accumulation of mast cells in the bone marrow and other organs. Indolent SM accounts for around 90% of SM cases., smoldering SMSmoldering SM A subtype of nonadvanced SM, with a higher mast cell burden than the indolent subtype. Smoldering SM has a higher likelihood of progressing to an advanced form. and advanced SMAdvanced SM In these subtypes of SM, mast cells begin to damage organs. Advanced SM includes the subtypes aggressive SM, mast cell leukemia and SM with an associated hematological neoplasm., at Ege University in Turkey.
Results showed three years of median interval between symptom onset and SM diagnosis. In some cases, symptoms persisted for 10 years before a diagnosis was made.
Dermatological symptoms were the most frequent presentation, representing more than 70% of cases. Neurological symptoms such as headache and memory loss were present in more than 50% of patients. Other common manifestations included weight loss and dyspepsia, anaphylaxisAnaphylaxis A severe allergic reaction that can turn fatal without treatment. Patients with SM are at a higher risk of developing anaphylaxis. and osteoporosis.
Researchers observed differences in symptom frequency depending on the SM subtype. Anaphylaxis and neurological symptoms were more common among patients with indolent SM, while hepatic dysfunction and portal hypertension were more frequent in advanced SM.
More than 80% of patients had elevated blood tryptase levels. Patients with advanced SM tended to have higher tryptase levels than the rest. The authors remarked that low hemoglobin and platelet levels were a constant among all patients.
As expected, patients with advanced SM had worse survival than patients with indolent and smoldering SM. After two years, the survival rate was 100% for patients with indolent SM and 46% for patients with advanced SM.
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