Citations 2
Thrombosis risk with haemoglobin C trait and haemoglobin C disease: A systematic review
Jacobs, Jeremy W. , Sharma, Deva , Stephens, Laura D. , Rinder, Henry M. , Wheeler, Allison P. , Gerberi, Dana , Goel, Ruchika , Tormey, Christopher A. , Booth, Garrett S. , Bloch, Evan M. , Adkins, Brian D. , Rinder, Henry M , Wheeler, Allison P , Goel, Ruchika , Tormey, Christopher A , Booth, Garrett , Bloch, Evan M , Adkins, Brian David , Jacobs, Jeremy W , Stephens, Laura , Villalba, Cristina A. Figueroa , Woo, Jennifer S.
British Journal of Haematology | January 31, 2024 | Volume: 204 | Issue: 4 | Pages: 1500-1506
SummaryThe thrombotic risk with haemoglobin C trait (HbAC) or haemoglobin C disease (HbCC) is unclear. However, individuals with HbCC have demonstrated chronic haemolysis, higher blood viscosity and altered rheology when compared to individuals with wild‐type haemoglobin (HbAA). These physiological alterations may theoretically translate to increased risk of thrombosis; therefore, a systematic literature review was performed to investigate the possible association between HbAC and/or HbCC and thrombosis. Twenty‐two studies met inclusion criteria representing 782 individuals with HbAC (n = 694) or HbCC (n = 88). Fifteen studies described the presence/absence of venous thromboembolism (VTE) in patients with HbAC (n = 685) or HbCC (n = 79), while seven studies described patients with HbAC (n = 9) or HbCC (n = 9) and arterial thrombosis. Most (n = 20) studies were case reports or case series; however, two studies suggested a potential increased VTE risk with HbAC compared to HbAA in (i) all patients (OR 2.2, 95% CI: 0.9–5.5) and in (ii) pregnant individuals (RR 3.7, 95% CI 0.9–16). This review is the largest assessment of patients with HbC trait or disease and thrombosis to date; despite its limitations, the findings suggest HbC may be a predisposing risk factor to thrombosis. Prospective cohort studies are warranted to definitively elucidate the risk of thrombosis in this population.
Heidenhain variant of Creutzfeldt-Jakob disease masquerading as neuromyelitis optica spectrum disorder: recognizing when apheresis is not the answer
Burke, Olivia , Jacobs, Jeremy W. , Rinder, Henry M. , Villalba, Cristina A. Figueroa , Lee, Edward S. , Campos, Juan J Silva, Abels, Elizabeth , Yurtsever, Nalan, Yurtsever, Nalan , Lee, Edward S , Jacobs, Jeremy W , Yurtsever, Nalan , Burke, Olivia, Tormey, Christopher A.
Laboratory Medicine | December 24, 2023 | Volume: 55 | Issue: 4 | Pages: 520-523
Abstract The Heidenhain variant of Creutzfeld-Jakob disease (CJD) is a rare form that initially presents with visual disturbances. In early stages, the presentation can mimic neuromyelitis optica spectrum disorders (NMOSD) and lead to unnecessary treatment modalities. Herein, we describe a case of a 66-year-old man who presented with bilateral vision loss and retro-orbital discomfort. In addition to immunosuppressive therapy, he received 4 rounds of therapeutic plasma exchange after his preliminary diagnosis of NMOSD. We were surprised to note that his condition did not show improvement but deteriorated, with severe neurocognitive symptoms. Eventually, CJD was suspected, and real-time quaking-induced conversion (RT-QuIC) was performed. By the time the diagnosis of Heidenhain variant of CJD was confirmed, the patient was discharged to hospice care and died shortly after.