Hereditary alpha tryptasemia
ICD-10 D89.44 is a billable code used to indicate a diagnosis of hereditary alpha tryptasemia.
Hereditary alpha tryptasemia is a genetic condition characterized by elevated levels of the enzyme alpha tryptase in the blood, which is produced by mast cells. This condition is often associated with mast cell activation disorders and can lead to various hematologic complications. Patients may experience symptoms such as recurrent anaphylaxis, skin rashes, gastrointestinal issues, and respiratory problems due to mast cell degranulation. The condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for the manifestation of the disorder. Diagnosis typically involves measuring serum tryptase levels, genetic testing for mutations in the TPSAB1 gene, and a thorough clinical evaluation of symptoms. Management may include antihistamines, mast cell stabilizers, and avoidance of known triggers. Understanding hereditary alpha tryptasemia is crucial for healthcare providers, as it can significantly impact the patient's quality of life and requires careful monitoring and treatment strategies.
Detailed clinical history, laboratory results, and genetic testing documentation.
Patients presenting with unexplained anaphylaxis or recurrent mast cell activation symptoms.
Ensure that all symptoms and laboratory findings are clearly documented to support the diagnosis.
Comprehensive allergy history, mast cell activation symptom tracking, and response to treatments.
Patients with a history of allergic reactions and elevated tryptase levels.
Documenting triggers and response to antihistamines or other treatments is crucial.
Used to evaluate overall blood health and detect abnormalities.
Document the reason for the CBC and any abnormal findings.
Hematology specialists should ensure all relevant lab results are included.
Hereditary alpha tryptasemia is a genetic condition characterized by elevated levels of alpha tryptase in the blood, leading to symptoms associated with mast cell activation.
Diagnosis involves measuring serum tryptase levels and genetic testing for mutations in the TPSAB1 gene, along with a clinical evaluation of symptoms.
