Clinical course of myeloproliferative leukaemia virus oncogene (MPL) mutation-associated familial thrombocytosis: a review of 64 paediatric and adult patients.

Familial thrombocytosis (FT) is a rare hereditary haematological disorder characterised by increased platelet count, usually caused by germ-line mutations in thrombopoietin (THPO), myeloproliferative leukaemia virus oncogene (MPL) or Janus kinase 2 (JAK2) genes, and can be associated with increased risk of thrombosis. We aimed to determine the yield of diagnostic tests, assess treatment received and describe the clinical course of MPL-associated FT. We retrospectively reviewed all paediatric and adult haematology patients diagnosed with MPL-related FT, who were seen in our clinics from March 2013 to February 2021. Of 64 eligible patients, 26 (41%) were aged <14 years, while the remaining 38 (59%) patients were adults. The median (interquartile range) age at diagnosis was 20 (33·5) years. In all, 26 tribes were represented in this cohort of 64 patients, out of which 31 (48%) patients belonged to two tribes. A total of 60 patients (94%) had thrombocytosis on blood count. Additional genetic tests, including myelodysplastic syndrome (MDS) gene panel, Philadelphia gene breakpoint cluster region-Abelson (BCR-ABL) and JAK2, were carried out for 52 patients and only one patient was positive for JAK2 mutation. In all, 21 (33%) patients were prescribed aspirin and seven (11%) were prescribed hydroxyurea. Overall, 63 (98%) patients did not develop any thrombotic or haemorrhagic event. There was no significant association of MPL-mutated FT with thrombosis or haemorrhage.

Kounis Syndrome: A Case Report and a Review of Recent Literature.

Kounis syndrome (KS) is commonly defined as acute myocardial infarction (AMI) secondary to exposure to an allergen. There are multiple identified allergens that are associated with KS, examples include medications, food, and contrast media. After exposure to an allergen, the allergic pathway is triggered leading to vasospasm in coronary vessels which later on presents as AMI. A high index of clinical suspicion is of crucial importance as there are multiple variants of KS. Each type requires a different management approach depending on the severity of the presenting symptoms. Here, we present a case of a 65-year-old female with a history of transient ischemic attack (TIA) who presented to our hospital with symptoms of urinary tract infection and received the first dose of ceftriaxone while in the ER. She then developed symptoms of shortness of breath, chest pain, and diaphoresis associated with overall skin itchiness with ECG evidence of ST-elevation myocardial infarction (STEMI) in the inferior leads. She was given initial measures to treat possible allergic reactions including steroids and diphenhydramine and her ECG showed complete resolution after that; therefore, she was presumed to have KS after exposure to antibiotics. In this case report, we elaborate more about our case and further explore management options for KS.