Diana Triantafyllopoulou - Academia.edu (original) (raw)
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Papers by Diana Triantafyllopoulou
Journal of Thrombosis and Haemostasis, 2022
BACKGROUND Acute thrombotic thrombocytopenic purpura (TTP) is a life-threatening emergency and pl... more BACKGROUND Acute thrombotic thrombocytopenic purpura (TTP) is a life-threatening emergency and plasma exchange (PEX) is the initial treatment shown to reduce acute mortality. OBJECTIVES To compare current practice in the United Kingdom (UK) against the standards set out in the 2012 British Society of Haematology guideline, and to better understand the issues affecting prompt initiation of PEX. PATIENTS/METHODS The trainee research network HaemSTAR conducted a retrospective nationwide review of adults presenting to UK hospitals with a first episode of acute TTP. RESULTS Data on 148 patients treated at 80 UK hospitals between 2014 and 2019 demonstrated that 64.8% of patients received PEX within 24 hours. Diagnostic uncertainty was the most commonly cited reason for delayed treatment. Conversely, a shorter time to PEX occurred in patients who had red cell fragments or severe thrombocytopenia identified on their first complete blood count. Availability of on-site PEX was associated with a greater proportion of patients receiving PEX within 8 hours compared to patients transferred, but by 24 hours there was no difference between the two groups and 2/3 of all patients had received their first PEX. The mortality rate for patients that received PEX was 9.2%, with 27.8% of deaths linked to delayed treatment initiation. CONCLUSIONS This is the first multi-centre evaluation of treatment delays in acute TTP and it will inform targeted pathways to improve prompt access to life-saving intervention.
Somatic mutations in the gene encoding the major E1 ubiquitin ligase, UBA1, were recently identif... more Somatic mutations in the gene encoding the major E1 ubiquitin ligase, UBA1, were recently identified as a cause of VEXAS, a late-onset acquired auto-inflammatory syndrome. Differential diagnoses for patients subsequently found to have VEXAS include relapsing polychondritis, Sweet’s syndrome, myelodysplastic syndrome (MDS), giant cell arteritis (GCA) and undifferentiated systemic autoinflammatory disease (uSAID). We therefore sought to screen DNA from individuals with a non-diagnostic cytopenia or GCA, for known VEXAS-associated mutations. To this end, we developed a multiplexed UBA1 amplicon sequencing assay, allowing quick screening of large cohorts while also providing sufficient sequencing depth to identify somatic mutations to an allele frequency <1%. Using this assay, we screened genomic DNA from 612 males diagnosed with GCA, and bone marrow DNA from 1,055 cases with an undiagnosed cytopenia. No GCA cases were found to have UBA1 mutations, however 4 different mutations in th...
BMJ Case Reports, 2020
The SARS-CoV-2 infection has caused a pandemic with a case rate of over 290 000 lab-confirmed cas... more The SARS-CoV-2 infection has caused a pandemic with a case rate of over 290 000 lab-confirmed cases and over 40 000 deaths in the UK. There is little evidence to inform the optimal management of a patient presenting with new or relapsed acute idiopathic thrombocytopaenic purpura with concurrent SARS-CoV-2 infection. We present a case of severe thrombocytopaenia complicated by subdural haematoma and rectal bleed associated with COVID-19. A 67-year-old man, admitted with a non-productive cough and confusion, was found to be positive for COVID-19. Ten days after admission, his platelets decreased from 146×109/L to 2×109/L. His platelets did not increase despite receiving frequent platelet transfusions. He was non-responsive to corticosteroids and intravenous immunoglobulins. Romiplostim and eltrombopag were given and after 9 weeks of treatment, his platelet count normalised. He was deemed medically fit with outpatient follow-up in a haematology clinic.
Reports — Medical Cases, Images, and Videos
We report a case of spontaneous gastrosplenic fistula in a 57 year old female who presented to th... more We report a case of spontaneous gastrosplenic fistula in a 57 year old female who presented to the emergency department with abdominal pain and weight loss. From the physical examination, she had a palpable abdominal mass. A CT scan was performed and showed a mass involving the proximal greater curve of the stomach, infiltrating the spleen and pancreas. There was a 12 mm defect in the cardia of the stomach with gas entering the large mass but there was no free gas in the abdomen. The defect was a gastrosplenic fistula. A gastroscopic biopsy confirmed the diagnosis of diffuse large B cell lymphoma. Surgical removal of the mass was not feasible; therefore she was treated with RCHOP chemotherapy, achieving complete remission.
Reports, Oct 25, 2018
A common cause of abdominal pain is acute pancreatitis, with the majority of cases being attribut... more A common cause of abdominal pain is acute pancreatitis, with the majority of cases being attributed to gallstones and excess alcohol. Sickle cell anaemia (SCA) is an autosomal recessive disease causing the production of abnormal haemoglobin. Physiological changes can lead to vaso-occlusion in sickle cell anaemia. Cholelithiasis is frequently seen in patients with SCA and complications from this can increase patient morbidity. We present a rare case of acute pancreatitis inducing a vaso-occlusive crisis.
Reports
Myeloid sarcoma is an extramedullary mass consisting of myeloblasts that may present simultaneous... more Myeloid sarcoma is an extramedullary mass consisting of myeloblasts that may present simultaneously or precede a bone marrow disorder. It has been reported to occur without a known preexisting diagnosis of acute leukemia, myelodysplastic syndrome or a myeloproliferative neoplasm and this is known as primary myeloid sarcoma. Here, we report a case of an 80-year-old male who presented with intermittent vomiting and significant weight loss for 3 months. The imaging and histological findings were consistent with a mesenteric myeloid sarcoma encasing the coeliac trunk and superior mesenteric artery, abutting and obstructing the proximal small bowel, causing subacute bowel obstruction. Systemic chemotherapy with low dose cytarabine achieved a reduction in the size of myeloid sarcoma and improved patient’s symptomatology but unfortunately our patient succumbed to progression 11 months later.
Case Reports in Hematology, 2015
We report a case of a 43-year-old Caucasian man who presented with colicky abdominal pain and mic... more We report a case of a 43-year-old Caucasian man who presented with colicky abdominal pain and microcytic hypochromic anemia. The patient underwent a colonoscopy where a tumor was seen in the ascending colon; histology showed plasmacytoma of the colon. From the protein electrophoresis, no monoclonal band or free light chains were detected nor was urinary Bence Jones protein present. A bone marrow biopsy showed plasma cell myeloma. To the best of our knowledge, this is the first case of nonsecretory multiple myeloma presenting as plasmacytoma of the colon.
Journal of Thrombosis and Haemostasis, 2022
BACKGROUND Acute thrombotic thrombocytopenic purpura (TTP) is a life-threatening emergency and pl... more BACKGROUND Acute thrombotic thrombocytopenic purpura (TTP) is a life-threatening emergency and plasma exchange (PEX) is the initial treatment shown to reduce acute mortality. OBJECTIVES To compare current practice in the United Kingdom (UK) against the standards set out in the 2012 British Society of Haematology guideline, and to better understand the issues affecting prompt initiation of PEX. PATIENTS/METHODS The trainee research network HaemSTAR conducted a retrospective nationwide review of adults presenting to UK hospitals with a first episode of acute TTP. RESULTS Data on 148 patients treated at 80 UK hospitals between 2014 and 2019 demonstrated that 64.8% of patients received PEX within 24 hours. Diagnostic uncertainty was the most commonly cited reason for delayed treatment. Conversely, a shorter time to PEX occurred in patients who had red cell fragments or severe thrombocytopenia identified on their first complete blood count. Availability of on-site PEX was associated with a greater proportion of patients receiving PEX within 8 hours compared to patients transferred, but by 24 hours there was no difference between the two groups and 2/3 of all patients had received their first PEX. The mortality rate for patients that received PEX was 9.2%, with 27.8% of deaths linked to delayed treatment initiation. CONCLUSIONS This is the first multi-centre evaluation of treatment delays in acute TTP and it will inform targeted pathways to improve prompt access to life-saving intervention.
Somatic mutations in the gene encoding the major E1 ubiquitin ligase, UBA1, were recently identif... more Somatic mutations in the gene encoding the major E1 ubiquitin ligase, UBA1, were recently identified as a cause of VEXAS, a late-onset acquired auto-inflammatory syndrome. Differential diagnoses for patients subsequently found to have VEXAS include relapsing polychondritis, Sweet’s syndrome, myelodysplastic syndrome (MDS), giant cell arteritis (GCA) and undifferentiated systemic autoinflammatory disease (uSAID). We therefore sought to screen DNA from individuals with a non-diagnostic cytopenia or GCA, for known VEXAS-associated mutations. To this end, we developed a multiplexed UBA1 amplicon sequencing assay, allowing quick screening of large cohorts while also providing sufficient sequencing depth to identify somatic mutations to an allele frequency <1%. Using this assay, we screened genomic DNA from 612 males diagnosed with GCA, and bone marrow DNA from 1,055 cases with an undiagnosed cytopenia. No GCA cases were found to have UBA1 mutations, however 4 different mutations in th...
BMJ Case Reports, 2020
The SARS-CoV-2 infection has caused a pandemic with a case rate of over 290 000 lab-confirmed cas... more The SARS-CoV-2 infection has caused a pandemic with a case rate of over 290 000 lab-confirmed cases and over 40 000 deaths in the UK. There is little evidence to inform the optimal management of a patient presenting with new or relapsed acute idiopathic thrombocytopaenic purpura with concurrent SARS-CoV-2 infection. We present a case of severe thrombocytopaenia complicated by subdural haematoma and rectal bleed associated with COVID-19. A 67-year-old man, admitted with a non-productive cough and confusion, was found to be positive for COVID-19. Ten days after admission, his platelets decreased from 146×109/L to 2×109/L. His platelets did not increase despite receiving frequent platelet transfusions. He was non-responsive to corticosteroids and intravenous immunoglobulins. Romiplostim and eltrombopag were given and after 9 weeks of treatment, his platelet count normalised. He was deemed medically fit with outpatient follow-up in a haematology clinic.
Reports — Medical Cases, Images, and Videos
We report a case of spontaneous gastrosplenic fistula in a 57 year old female who presented to th... more We report a case of spontaneous gastrosplenic fistula in a 57 year old female who presented to the emergency department with abdominal pain and weight loss. From the physical examination, she had a palpable abdominal mass. A CT scan was performed and showed a mass involving the proximal greater curve of the stomach, infiltrating the spleen and pancreas. There was a 12 mm defect in the cardia of the stomach with gas entering the large mass but there was no free gas in the abdomen. The defect was a gastrosplenic fistula. A gastroscopic biopsy confirmed the diagnosis of diffuse large B cell lymphoma. Surgical removal of the mass was not feasible; therefore she was treated with RCHOP chemotherapy, achieving complete remission.
Reports, Oct 25, 2018
A common cause of abdominal pain is acute pancreatitis, with the majority of cases being attribut... more A common cause of abdominal pain is acute pancreatitis, with the majority of cases being attributed to gallstones and excess alcohol. Sickle cell anaemia (SCA) is an autosomal recessive disease causing the production of abnormal haemoglobin. Physiological changes can lead to vaso-occlusion in sickle cell anaemia. Cholelithiasis is frequently seen in patients with SCA and complications from this can increase patient morbidity. We present a rare case of acute pancreatitis inducing a vaso-occlusive crisis.
Reports
Myeloid sarcoma is an extramedullary mass consisting of myeloblasts that may present simultaneous... more Myeloid sarcoma is an extramedullary mass consisting of myeloblasts that may present simultaneously or precede a bone marrow disorder. It has been reported to occur without a known preexisting diagnosis of acute leukemia, myelodysplastic syndrome or a myeloproliferative neoplasm and this is known as primary myeloid sarcoma. Here, we report a case of an 80-year-old male who presented with intermittent vomiting and significant weight loss for 3 months. The imaging and histological findings were consistent with a mesenteric myeloid sarcoma encasing the coeliac trunk and superior mesenteric artery, abutting and obstructing the proximal small bowel, causing subacute bowel obstruction. Systemic chemotherapy with low dose cytarabine achieved a reduction in the size of myeloid sarcoma and improved patient’s symptomatology but unfortunately our patient succumbed to progression 11 months later.
Case Reports in Hematology, 2015
We report a case of a 43-year-old Caucasian man who presented with colicky abdominal pain and mic... more We report a case of a 43-year-old Caucasian man who presented with colicky abdominal pain and microcytic hypochromic anemia. The patient underwent a colonoscopy where a tumor was seen in the ascending colon; histology showed plasmacytoma of the colon. From the protein electrophoresis, no monoclonal band or free light chains were detected nor was urinary Bence Jones protein present. A bone marrow biopsy showed plasma cell myeloma. To the best of our knowledge, this is the first case of nonsecretory multiple myeloma presenting as plasmacytoma of the colon.