Differential Diagnosis for May-Hegglin Anomaly
- Single most likely diagnosis
- May-Hegglin Anomaly: A rare genetic disorder characterized by giant platelets, thrombocytopenia, and inclusion bodies in neutrophils, making it the most direct match for the condition described.
- Other Likely diagnoses
- Fechtner Syndrome: Similar to May-Hegglin anomaly but with additional features such as sensorineural hearing loss and cataracts. The presence of giant platelets and thrombocytopenia could suggest this diagnosis if other systemic symptoms are present.
- Sebastian Syndrome: Another condition with giant platelets and thrombocytopenia, distinguished by the presence of neutrophil inclusions but without the hearing loss or cataracts seen in Fechtner Syndrome.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- Acute Myeloid Leukemia (AML): Although AML does not typically present with giant platelets as a primary feature, certain subtypes can have unusual cytogenetic abnormalities that might mimic or coexist with May-Hegglin anomaly symptoms. Missing AML could be catastrophic due to its aggressive nature.
- Myeloproliferative Neoplasms (MPN): Conditions like Essential Thrombocythemia can sometimes present with thrombocytopenia or abnormal platelet morphology, and while less likely, missing an MPN could lead to significant morbidity or mortality due to thrombotic or hemorrhagic complications.
- Rare diagnoses
- Bernard-Soulier Syndrome: A disorder characterized by giant platelets and thrombocytopenia, but it primarily affects platelet function leading to bleeding tendencies, rather than the neutrophil inclusions seen in May-Hegglin anomaly.
- Gray Platelet Syndrome: Characterized by large platelets that are deficient in alpha-granules, leading to a gray appearance on peripheral smear. While it presents with thrombocytopenia, the primary issue is related to platelet function rather than the specific inclusions seen in May-Hegglin anomaly.