Peer-review started: July 22, 2022
First decision: September 26, 2022
Revised: October 6, 2022
Accepted: December 6, 2022
Article in press: December 6, 2022
Published online: January 5, 2023
Processing time: 165 Days and 17.1 Hours
The May-Hegglin anomaly is among a group of genetic disorders known as MYH9-related disease. Patients with inherited platelet disorders such as May-Hegglin anomaly are at a variably increased risk for bleeding due to a com-bination of platelet dysfunction and thrombocytopenia. Patients admitted to the hospital with coronavirus disease 2019 (COVID-19) infection are at an increased risk for a venous thromboembolism event (VTE). The National Institutes of Health COVID-19 treatment guidelines recommend using a prophylactic dose of heparin as VTE prophylaxis for adults who are receiving high-flow oxygen. We describe a patient admitted for COVID-19 infection with pneumonia and a history of May-Hegglin anomaly. The patient presented a challenge to determine prophylactic anticoagulation as there are no clear guidelines for this patient population.
Herein, we describe the case of a 39-year-old woman admitted with acute hypoxic respiratory failure secondary to COVID-19 pneumonia. She had a history of May-Hegglin anomaly and demonstrated risk for bleeding since childhood, including a life-threatening bleeding event at the age of 9 years requiring blood and platelet transfusions. Her baseline platelet count was 40-50 × 109/L throughout her adult life. Her family history was also notable for May-Hegglin disorder in her mother, maternal uncle, maternal grandfather and her son. Computed tomography/ pulmonary angiography revealed bilateral consolidative opacities consistent with multifocal pneumonia. Complete blood count was notable for platelet count of 54 × 109/L. She was admitted for inpatient respiratory support with high-flow oxygen per nasal cannula and was managed with guideline-directed therapy for COVID-19, including baricitinib and dexamethasone. The Hematology/Oncology consultation team was requested to assist with management of VTE prophylaxis in the setting of active COVID-19 infection and an inherited bleeding disorder. After review of the literature and careful consideration of risks and benefits, it was decided to treat the patient with prophylactic enoxaparin. She was closely monitored in the hospital for bleeding and worsening thrombocytopenia. She had no bleeding or signs of VTE. Her respiratory status improved, and she was discharged home after 5 d of hospitalization with supplemental oxygen by nasal cannula and dexamethasone. At the 6-month follow-up, the patient successfully discontinued her home oxygen use after only a few weeks following discharge.
The patient presented a challenge to determine prophylactic anticoagulation as anticoagulation guidelines exist for patients with COVID-19, but there are no clear guidelines for management of patients with COVID-19 and inherited bleeding disorders, particularly those with MYH9- related disease. She was discharged after recovery from the COVID-19 infection without bleeding or thrombosis. As there are no published guidelines for this situation, we present a pragmatic, informed approach to a patient with MYH9-related disease who had an indication for anticoagulation.
Core Tip: May-Hegglin anomaly is one of several autosomal dominant disorders described as MYH9 mutation-related diseases (MYH9-RD). A mutation in the MYH9 gene causes macrothrombocytopenia and a mild to moderate bleeding tendency. Severity of bleeding in patients with MYH9-RD is related to the degree of thrombocytopenia and to physical properties of the large platelets. MYH9-RD is not an absolute contraindication to anticoagulation or antiplatelet agents. If a patient with MYH9-RD presents with an indication for anticoagulation, such as coronavirus disease 2019 infection, one must take a careful history of previous bleeding episodes and weigh bleeding risk against the risk of thrombosis.