Cyanotic Nephropathy in an Adult Patient with Eisenmenger Syndrome: A Case Report and Literature Review.

INTRODUCTION: Cyanotic nephropathy, a rare disease characterized by proteinuria, decreased estimated glomerular filtration rate, thrombocytopenia, polycythemia, and hyperuricemia, may occasionally be secondary to cyanotic congenital heart disease (CHD). There are currently no detailed diagnostic criteria or treatments for cyanotic nephropathy, owing to its extremely low incidence. Eisenmenger syndrome (ES) was initially defined by Paul Wood in pathophysiologic terms as "pulmonary hypertension (PH) at the systemic level, caused by a high pulmonary vascular resistance, with a reversed or bidirectional shunt at the aorto-pulmonary, ventricular, or atrial level." It typically develops in the presence of large, unrepaired atrial or ventricular septal defects, arterial shunts, or complex forms of CHD and is the most severe hemodynamic phenotype of pulmonary arterial hypertension associated with CHD. This study aimed to outline the case of an ES patient who developed cyanotic nephropathy and successfully achieved clinical remission through primary disease treatment and symptomatic management. Overall, this case expands our understanding of cyanotic nephropathy and lays a theoretical reference for the treatment of ES. CASE PRESENTATION: A 33-year-old Chinese female attended the outpatient department with abnormal urine test results over the past two and a half years. Following a comprehensive medical history collection, she underwent the necessary tests. Cardiac color ultrasound displayed a significant widening of the pulmonary artery and PH (severe), as well as mild tricuspid regurgitation and patent ductus arteriosus. The results of the kidney biopsy, combined with clinical findings, suggested a high risk of polycythemia-related kidney disease. She was eventually diagnosed with cyanotic nephropathy and ES. Her symptoms were relieved following symptomatic treatment, such as the administration of ambrisentan, febuxostat, and home oxygen therapy. Her follow-up visit at 6 months demonstrated improvements in hyperuricemia and a significant increase in physical strength. CONCLUSION: Cyanotic nephropathy is a rare condition in adults. Kidney biopsy remains the gold standard of diagnosis for various nephropathies. Active treatment of CHD and alleviating hypoxia may be pivotal for the treatment of cyanotic nephropathy.

[How I manage polycythemia]. / Comment j'explore une polyglobulie.

Polycythemia is suspected when hemoglobin and/or hematocrit levels exceed established norms based on gender and age. This biological anomaly can arise from a myeloproliferative neoplasm known as polycythemia vera, or be secondary to excess erythropoietin (EPO) or decreased in plasma volume. Faced with polycythemia, the search for JAK2 mutations and measurement of serum EPO levels can guide toward the etiology. In polycythemia vera, thromboembolic events are the most lethal complications and unfortunately often the initial manifestation of the disease. The condition can also progress to myelofibrosis or acute leukemia. Management aims at reducing the hematocrit below 45 %, in order to limit, but not completely prevent, thrombo-embolic complications. This article elaborates on the clinical considerations around this biological anomaly, relevant complementary examinations, and briefly the therapeutic management.

La polyglobulie est suspectée lorsque le taux d'hémoglobine et/ou d'hématocrite est au-dessus des normes définies selon le sexe et l'âge. Cette anomalie biologique peut survenir à la suite d'une néoplasie myéloproliférative appelée polycythemia vera (PV), être secondaire à un excès d'érythropoïétine (EPO) ou à une diminution du volume plasmatique. Face à une polyglobulie, la recherche de mutations du gène JAK2 et un dosage d'EPO sérique permettront d'orienter vers l'étiologie. En cas de PV, les phénomènes thrombo-emboliques sont les complications les plus léthales et sont malheureusement souvent la première manifestation de la maladie. La maladie peut également évoluer en myélofibrose ou en leucémie aiguë. La prise en charge vise à réduire le taux d'hématocrite en-dessous de 45 %, afin de limiter, sans les empêcher complètement, les complications thrombo-emboliques. Dans cet article, nous développons la réflexion clinique autour de cette anomalie biologique, les examens complémentaires pertinents dans ce domaine et, brièvement, la prise en charge thérapeutique.

TEMPI syndrome: A clinical, light-microscopic and phenotypic evaluation with review of the literature.

BACKGROUND AND OBJECTIVES: TEMPI (telangiectasias, elevated erythropoietin and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonaryshunting) syndrome is a rare multisystemic disease classified as a monoclonal gammopathy of cutaneous significance. The pathogenesis and etiology of TEMPIare not well known because of the rarity of this disorder. Although telangiectasias are the hallmark of this syndrome, skin biopsies are rarely performed. We aim to further characterize TEMPI syndrome through the evaluationof a skin biopsy. METHODS: We reviewed the histopathology and immunophenotypic profile of a skin biopsy from a 53-year-oldwoman diagnosed with TEMPI syndrome. Other components of her syndromic complex included an IgA myeloma, elevated vascular endothelial growth factor (VEGF), and erythrocytosis. RESULTS: A biopsy showed prominent vascular ectasia with some degree of microvascular basement membranezone thickening. Our patient had a reduction in neoplastic plasma cell burdenand clearing of her telangiectasias following myeloma directed treatment. CONCLUSIONS: TEMPI can beviewed as a reactive vascular paraneoplastic syndrome in the setting of a plasma cell dyscrasia. Elaboration of VEGF from neoplastic plasma cells is likely pathogenetically implicated and appears to be a common link that explains other vascular lesions associated with monoclonal gammopathy syndromes.

Monochorionic Twins: TTTS, TAPS, and Selective Fetal Growth Restriction.

With an increasing incidence of twin gestations, understanding the inherent risks associated with these pregnancies is essential in modern obstetrics. The unique differences in placentation in monochorionic twins leads to unique complications, including twin-to-twin transfusion syndrome, the twin anemia-polycythemia sequence, and selective fetal growth restriction. Not only does the understanding of the monochorionic placenta lead to an understanding of the pathophysiology of the complications of monochorionic twins, but it also has led to the development of highly effective directed fetal therapy via fetoscopic laser coagulation used in twin-to-twin transfusion syndrome.

Concomitant Cerebral Venous Thrombosis and Intracranial Hemorrhages in Presentation of a Patient with Secondary Polycythemia: A Case Report.

BACKGROUND Cerebral ischemia and hemorrhages were reported to be the main complications of polycythemia vera (PV). The relationship between PV and increased risk of the cerebrovascular events has been established. Some patients with secondary polycythemia have thromboembolic events comparable to those of PV. However, secondary polycythemia that leads to cerebrovascular events is uncommon. CASE REPORT A 35-year-old man without any prior medical history presented with mild clinical acute ischemic stroke and polycythemia. The patient then showed worsening neurological deficits that were later attributed to the concurrent cerebral venous thrombosis, which led to malignant cerebral infarction with hemorrhagic transformation, and subarachnoid hemorrhage. His polycythemia appeared to be secondary to bacterial infection. The treatments for the secondary polycythemia were first phlebotomy and intravenous hydration, followed by intravenous broad-spectrum antibiotics. PV was excluded because the JAK2 V617F mutation was absent, the patient's peripheral blood smear suggested secondary polycythemia due to bacterial infection, and there were improvements in hemoglobin, erythrocyte count, and hematocrit after intravenous antibiotics. At the 1-month follow-up, he was moderately dependent, and hemoglobin, erythrocyte count, and hematocrit were within normal limits, without receiving any further phlebotomy or cytoreductive agents. CONCLUSIONS This case highlights the plausible causation of secondary polycythemia that could lead to concomitant cerebral thrombosis and hemorrhagic events. The diagnosis of cerebral venous thrombosis should be considered in a patient who presents with headache, focal neurological deficits, polycythemia, and normal head computed tomography scan.

Case Report: A novel EPAS1 mutation in a case of paraganglioma complicated with polycythemia and atrial septal defect.

Background: Paraganglioma is a rare neuroendocrine tumor and is highly associated with hereditary susceptibility genes, often occurring as part of a genetic syndrome. The genetic heterogeneity of paraganglioma poses challenges in diagnosis, counseling, and clinical management. Case summary: We present the case of a 60-year-old woman with hypertension, atrial septal defect, and polycythemia, who experienced paroxysmal palpitations, sweating, headache, abdominal pain, nausea, and vomiting. Her blood pressure was severely unstable. Blood laboratory tests revealed elevated catecholamine levels, contrast-enhanced CT of her whole abdomen showed a round retroperitoneal mass with soft tissue density, and somatostatin receptor imaging (68Ga PET-CT) indicated a retroperitoneal mass with abnormally increased expression of somatostatin receptor. It is interesting to note that whole exome sequencing (WES) analyses on both blood and tumor samples revealed a novel EPAS1 mutation, specifically the c.2501A > G; p.Tyr834Cys variant, which has never been reported. The patient was diagnosed with paraganglioma and underwent successful Da Vinci robot-assisted laparoscopic resection of the retroperitoneal tumor. During a 3-month follow-up period, her blood pressure stabilized, and her symptoms significantly improved. Conclusion: This case reveals that the EPSA1 mutation may be the primary driver of paraganglioma complicated by atrial septal defect and polycythemia. Additionally, the utilization of Da Vinci robot-assisted laparoscopic surgery contributed to a favorable prognosis for the patient.

Effects of delayed cord clamping at different time intervals in late preterm and term neonates: a randomized controlled trial.

Delayed cord clamping (DCC) at delivery has well-recognized benefits; however, current scientific guidelines lack uniformity in its definition. This parallel-group, three-arm assessor-blinded randomized controlled trial compared the effects of three different timings of DCC at 30, 60, and 120 s on venous hematocrit and serum ferritin levels in late preterm and term neonates not requiring resuscitation. Eligible newborns (n = 204) were randomized to DCC 30 (n = 65), DCC 60 (n = 70), and DCC 120 (n = 69) groups immediately after delivery. The primary outcome variable was venous hematocrit at 24 ± 2 h. Secondary outcome variables were respiratory support, axillary temperature, vital parameters, incidences of polycythemia, neonatal hyperbilirubinemia (NNH), need and duration of phototherapy, and postpartum hemorrhage (PPH). Additionally, serum ferritin levels, the incidence of iron deficiency, exclusive breastfeeding (EBF) rate, and anthropometric parameters were assessed during post-discharge follow-up at 12 ± 2 weeks. Over one-third of the included mothers were anemic. DCC 120 was associated with a significant increase in the mean hematocrit by 2%, incidence of polycythemia, and duration of phototherapy, compared to DCC30 and DCC60; though the incidence of NNH and need for phototherapy was similar. No other serious neonatal or maternal adverse events including PPH were observed. No significant difference was documented in serum ferritin, incidences of iron deficiency, and growth parameters at 3 months even in the presence of a high EBF rate.   Conclusion: The standard recommendation of DCC at 30-60 s may be considered a safe and effective intervention in the busy settings of low-middle-income countries with a high prevalence of maternal anemia.   Trial registration: Clinical trial registry of India (CTRI/2021/10/037070). What is Known: • The benefits of delayed cord clamping (DCC) makes it an increasingly well-accepted practice in the delivery room. • However, uncertainty continues regarding the optimal timing of clamping; this may be of concern both in the neonate and the mother. What is New: • DCC at 120 s led to higher hematocrit, polycythemia and longer duration of phototherapy, without any difference in serum ferritin, and incidence of iron deficiency. • DCC at 30-60 s may be considered a safe and effective intervention in LMICs.

Survey on the usage of therapeutic erythrocytapheresis in transfusion services in Italy for the treatment of polycythemia vera, secondary erythrocytosis and hemochromatosis.

INTRODUCTION: Erythrocytapheresis, an apheresis treatment which selectively removes red blood cells, is an alternative to therapeutic phlebotomy, over which it has several advantages. Actually there is a high degree of variability in the use of this treatment. This prompted SIdEM (Italian Society of Hemapheresis and Cell Manipulation) to conduct a survey on the use of erythrocytapheresis in the Italian Transfusion Services. The purpose is to monitor this activity in the treatment of Polycythemia Vera (pv), secondary erythrocytosis and hemochromatosis. MATERIALS AND METHODS: A data collection file was sent to the SIdEM regional delegates who, in turn, involved the Transfusion Centers in the areas they cover. The data collected were processed on a Microsoft Excel spreadsheet. RESULTS: 75 centers from 14 Italian regions responded to the Survey: 36 centers (48 %) use erythrocytapheresis (35 centers perform therapeutic apheresis and 1 center only donor apheresis), 39 centers (52 %) do not (15 centers perform therapeutic apheresis, 18 centers only donor apheresis and 6 centers do not perform either therapeutic apheresis or donor apheresis). Although most centers have a substantially uniform attitude concerning the indications for which erythrocytapheresis is used, the survey shows that there are still differences more evident in the treatment of secondary erythrocytosis than in the treatment of pv or hemochromatosis. CONCLUSIONS: This survey has been useful to document the current Italian reality and to raise awareness about the need for improvement in optimizing and standardizing the use of a therapy with a great potential to exploit properly.

Secondary erythrocytosis.

INTRODUCTION: Erythrocytosis is associated with an elevation of the hemoglobin level above 16.5 g/dL in men and above 16 g/dL in women and an elevation of the hematocrit level above 49% in men and > 48% in women. In primary erythrocytosis, the defect is a clonal disorder in the myeloid compartment of the bone marrow, leading to an increased red cell production. Secondary erythrocytosis is the result of external stimuli to the bone marrow, leading to the production of red cells in excess. Secondary erythrocytosis is more common than primary erythrocytosis and has a broad differential diagnosis. AREAS COVERED: This review will discuss secondary erythrocytosis, its causes, clinical presentation, and both diagnostic and therapeutic approaches. EXPERT OPINION: Although secondary erythrocytosis is more common than PV, there are still challenges and difficulties associated with the distinction between these two conditions. Moreover, there is a paucity of data and guidance when it comes to the management of certain congenital and acquired conditions. A pragmatic approach is recommended in order to identify the cause for this condition. Treatment should be directed at the management of the underlying cause.

Revisiting the impact of serial therapeutic phlebotomy in polycythaemia on laboratory and clinical parameters using a fixed interval and fixed volume protocol.

OBJECTIVES: Therapeutic phlebotomy allows for a controlled and gradual decrease in red cell mass leading to improved blood flow and symptomatic relief in polycythaemia. The present study was aimed to determine the impact of serial fixed volume and fixed interval therapeutic phlebotomy protocol on the laboratory and clinical parameters in patients of polycythaemia. MATERIAL AND METHODS: This prospective longitudinal study was conducted over 18 months. The desired haematocrit for polycythemia vera and secondary polycythemia was 45% and 52% respectively. A fixed volume of 350 ml phlebotomy was performed every-three days till the achievement of desired haematocrit. Complete blood count was performed before and after each procedure and iron studies were done at the time of enrolment and after the achievement of desired haematocrit. Post-procedure symptomatic relief was assessed by a 10-point visual analogue scale (VAS). RESULTS: Of the 29 patients enrolled in the study, 3 patients were lost to follow up and data of 26 patients was analyzed. Mean Hb declined from 17.84 ± 1.88 gdL-1 to 14.67 ± 1.14 gdL-1 (p < 0.001) and mean haematocrit decreased from a baseline of 57.11 ± 5.47% to 46.27 ± 3.763% (p < 0.001) upon achievement of desired haematocrit. There was a significant decline in serum iron from the baseline of 132.85 ± 94.136 µg dL-1 to 69.41 ± 58.643 µg dL-1 at desired haematocrit. A significant change in VAS score of almost all clinical parameters was observed. Post phlebotomy hematocrit correlated negatively with the number of procedures (p = 0.015). CONCLUSION: Our protocol yielded rapid and marked improvement in patients of primary and secondary polycythemia with minimal adverse events and significant amelioration of clinical parameters.

Incidence, Contributing Factors, and Implications for Clinical Management of Polycythemia in Transmasculine Patients on Testosterone.

Purpose: The goal of this study was to evaluate contributing factors and management strategies for polycythemia in transmasculine patients on testosterone therapy. Methods: A retrospective analysis of medical records was performed for transmasculine patients on testosterone for at least 12 months. Data collected from each patient included age, body mass index (BMI), nicotine dependence, pulmonary disease status, obstructive sleep apnea (OSA) status, oophorectomy status, and testosterone route of administration. For patients who developed polycythemia, polycythemia management strategy data were collected. Results: Five-hundred-eleven patients were evaluated and 113 (22%) experienced an episode of polycythemia. Within the polycythemia group, 77% of patients were younger than age 40, 56% had a BMI >30.0, 44% had current or former nicotine dependence, 12% had a pulmonary disease, 12% had OSA, and 47% had received an oophorectomy. The polycythemia group had a significantly higher average age, BMI, and dose of testosterone, and also had a higher proportion of patients with OSA and an oophorectomy. Conclusion: These results revealed that polycythemia is a common side effect for transmasculine patients on testosterone. Importantly, previous oophorectomy may be associated with polycythemia which appears to be a novel finding. This finding requires further research but provides the potential to be an important screening consideration for transmasculine patients after oophorectomy. Polycythemia will continue to be a major concern for patients on testosterone therapy, and this study provided important information for clinical practice and future research that will lead to improved outcomes.

Prevalence of elevated hemoglobin and hematocrit levels in patients with obstructive sleep apnea and the impact of treatment with continuous positive airway pressure: a meta-analysis.

OBJECTIVES: Obstructive sleep apnea (OSA) is reported to be a cause of secondary polycythemia. The present study (i) reviewed the literature reporting the prevalence of secondary polycythemia in patients with OSA and (ii) determined the effect of continuous positive airway pressure (CPAP) therapy on hemoglobin and hematocrit levels in patients with OSA. METHODS: We searched MEDLINE, Embase and Cochrane for studies of adult patients with OSA that reported hemoglobin and/or hematocrit levels. We performed summary estimates of (i) polycythemia prevalence and a subgroup analysis according to OSA severity, and (ii) change in hemoglobin and hematocrit levels following treatment with CPAP. RESULTS: Synthesis of seven studies including 3,654 patients revealed an overall polycythemia prevalence of 2% (95% CI 1-4%); 2% (95% CI 1-3%) in mild-to moderate and 6 % (95% CI 3-12%) in severe OSA. In the pooled analysis of ten single-arm trials including 434 patients, CPAP treatment reduced hemoglobin by 3.76 g/L (95% CI -4.73 to -2.80 g/L). Similarly, pooled analysis of ten single-arm trials including 356 patients without baseline polycythemia showed that CPAP treatment reduced hematocrit by 1.1% (95% CI -1.4 to -0.9%). CONCLUSION: Our pooled analysis supports an increased prevalence of secondary polycythemia in OSA. This estimated prevalence is likely underestimated due to the change in the polycythemia diagnostic criteria in 2016. Future randomized controlled trials are needed to evaluate the effect of CPAP in patients with baseline polycythemia. HIGHLIGHTS: Pooled analysis shows OSA is associated with an increased prevalence of secondary polycythemiaPrevalence of polycythemia is greater in severe OSACPAP treatment for OSA reduces both the hemoglobin and hematocrit.

Polycythemia-Related Proliferative Ischemic Retinopathy Managed with Smoking Cessation: A Case Report.

Ischemic retinopathy characterized by neovascularization could result from several diseases such as proliferative diabetic retinopathy, hypertensive retinopathy, and retinal vein occlusion. However, ocular ischemic conditions caused by polycythemia have rarely been described. We report the first case of polycythemia-related proliferative ischemic retinopathy in a 41-year-old male heavy smoker who had ocular ischemic condition due to secondary polycythemia. He had sudden loss of vision in his right eye vision with vitreous hemorrhage and a tortuous retinal artery. Tracing back to his history, he was a heavy smoker with more than one pack of cigarettes per day for more than 30 years. Laboratory data revealed elevated levels of hemoglobin (17.7 g/dL) and hematocrit (51.6%) without other abnormal findings. We performed retinal photocoagulation on the neovascular areas and the fibrous membrane. Additionally, the patient was advised to quit smoking. Owing to adherence to this treatment, the patient's vision gradually recovered. Although rare, polycythemia can cause retinal ischemic events and should be considered as a sight-threatening disease. Photocoagulation is effective on the regression of the neovascular lesion. Most importantly, changes in lifestyle together with smoking cessation are effective in managing secondary polycythemia. In conclusion, prevention and cessation of tobacco consumption helps improve vision health.

TEMPI Syndrome: Update on Clinical Features, Management, and Pathogenesis.

TEMPI (telangiectasias, elevated erythropoietin level and erythrocytosis, monoclonal gammopathy, perinephric fluid collections, and intrapulmonary shunting) syndrome is a rare and newly defined multisystemic disease, which belongs to "monoclonal gammopathy of clinical significances". Due to its rarity, the etiology, pathogenesis, and clinical features of this disease remain largely unknown. Owing to its hidden and diverse clinical manifestations, missed diagnosis and misdiagnosis are common. In recent years, as more patients (including three fatal cases) were identified, some special clinical manifestations other than the typical pentad of TEMPI syndrome have been reported. Meanwhile, several studies attempting to identify the pathogenesis of TEMPI syndrome were conducted. In this review, we summarize the reported clinical characteristics of TEMPI syndrome and discuss the current and potential treatment options for patients with TEMPI syndrome, including those with relapsed/refractory disease. Furthermore, we provide an overview of current knowledge on the pathophysiology of TEMPI syndrome.

Long-term follow-up of complicated monochorionic twin pregnancies: Focus on neurodevelopment.

Monochorionic twin pregnancies have an increased risk of morbidity and mortality. Due to the advancements in screening and treatment strategies, mortality rates have decreased. Improving survival rates demands a shift in scope toward long-term outcomes. In this review, we focus on neurodevelopmental outcome in survivors from complicated monochorionic twin pregnancies, including twin-twin transfusion syndrome (TTTS), twin anemia-polycythemia sequence (TAPS), acute peripartum TTTS, acute perimortem TTTS, selective fetal growth restriction (sFGR) and monoamnionicity. Our aim is to provide an overview of the current knowledge on the long-term outcome in survivors, including psychomotor development and quality of life, and provide recommendations for future research and follow-up programs.

Twin-to-twin transfusion syndrome: Controversies in the diagnosis and management.

In twin-to-twin transfusion syndrome (TTTS) communicating placental vessels on the chorionic plate between the donor and recipient twins are responsible for the chronic imbalance of blood flow. Evidence demonstrates that fetoscopic laser ablation is superior to serial amnioreductions in terms of survival and neurological outcome for stages II-IV TTTS. However, the optimal management of stage I TTTS remains poorly understood. It is well established that all chorionic plate anastomoses should be closed by laser ablation. Compared to the selective laser method, the Solomon technique yields a significant reduction of recurrent TTTS and post-laser twin anemia polycythemia sequence (TAPS). Over the past 25 years, survival rates after fetoscopic laser surgery have significantly increased. High volume centers report up to 70% double survival and at least one survivor in >90% cases. In this review, we discuss the controversies in the diagnosis and management of TTTS, especially, the optimal management in stage I cases, very early or late diagnosis, and the optimal laser technique. Furthermore, we will discuss a stage-related outcome after laser surgery and examine whether it is necessary at all to distinguish between stages I and II. Finally, the optimal timing as well as mode of delivery after TTTS laser treatment will be discussed.

Pathophysiology, diagnosis, and management of twin anemia polycythemia sequence in monochorionic multiple gestations.

Twin anemia polycythemia sequence (TAPS) is a consequence of unequal sharing of red blood cells between monochorionic twins resulting in anemia in the donor and polycythemia in the recipient twin. Prenatally TAPS can occur spontaneously or complicate incomplete laser surgery for twin transfusion syndrome. While there may be clinical overlap with twin transfusion syndrome or selective fetal growth restriction, diagnosis relies on Doppler measurement of middle cerebral artery peak systolic velocities. Significantly discordant velocities are diagnostic, while severity staging is based on signs of cardiovascular compromise. Conservative management, fetoscopic laser coagulation, selective twin reduction, fetal blood and exchange transfusion, and delivery may be selected guided by the gestational age of diagnosis, the severity of the condition, the likelihood of success, and the patients' priorities. Prenatal curative treatment that minimizes the risk for prematurity and residual morbidity at birth is most likely to offer the greatest short-term and long-term benefits.

Severe chronic Carboxyhemoglobinemia and polycythemia due to smoking hookah.

Acute carbon monoxide (CO) poisoning due to smoking hookah has been reported and may present similarly to other causes of acute carbon monoxide poisoning with nausea, headache, and loss of consciousness [1]. In the acute poisoned patient, immediate removal from the carbon monoxide source is paramount in addition to administration of oxygen and possible hyperbaric oxygen therapy (HBO) in certain situations. However, cases of chronic CO poisoning, treatment options, and long-term adverse health effects are far less reported but may include atherosclerosis and vague neurologic symptoms [2]. We present a case of a patient who chronically smoked hookah creating a condition of chronic carboxyhemoglobinemia which was discovered during work up for unexplained polycythemia. While being seen in the hematology clinic, he was found to have a blood carboxyhemoglobin of level 33.6% despite being asymptomatic. This is the highest recorded hookah-related carboxyhemoglobin concentration in the medical literature; and the significant chronic carboxyhemoglobinemia explained his polycythemia. This case illustrates that a social history is crucial when assessing the patient with severe carboxyhemoglobinemia as HBO is not indicated in chronic CO poisoning in an asymptomatic patient.

Feasibility of fetal left modified myocardial performance index in twin anemia polycythemia sequence and perinatal outcomes after antenatal intervention.

OBJECTIVE: To evaluate the feasibility and clinical value of fetal left modified myocardial performance index (Mod-MPI) in assessment and management of prenatal twin anemia polycythemia sequence (TAPS). METHODS: We retrospectively reviewed fetuses with TAPS diagnosed prenatally between 2015 and 2019 at Asan Medical Center. Doppler ultrasound evaluation including the peak systolic velocity (PSV) of the middle cerebral artery (MCA) and fetal echocardiography including left Mod-MPI were evaluated and followed up after antenatal management. RESULTS: Among 10 cases of fetal twin pregnancies with prenatal TAPS, six were spontaneous and four were post-laser TAPS. Left Mod-MPI was abnormal in one or both twins of nine cases (90%) including all post-laser TAPS (n = 4) and 83.3% of spontaneous TAPS (n = 5). Three recipients, one donor and three former recipients/new donors had elevated left Mod-MPI values, and one donor, one recipient, two former donors/new recipients had decreased values. Antenatal intervention was performed in eight cases with intrauterine transfusion (n = 4), fetoscopic laser surgery (n = 2), radiofrequency ablation (n = 1), and intrauterine transfusion followed by radiofrequency ablation (n = 1). The remaining two cases were either delivered or managed expectantly. MCA-PSV and left Mod-MPI became normal on the follow-up scans in all cases except the delivered case. There were four fetal deaths: two occurred spontaneously and two were selectively terminated by radiofrequency ablation. Overall perinatal survival per fetus was 80% (16/20) and the median gestational age at delivery was 34.4 (range, 29.2-37.4) weeks. Neither postnatal death nor neurodevelopmental delay occurred during a median follow-up of 13 months (range, 0.25-60 months). CONCLUSION: Fetal left Mod-MPI was useful for assessment of compromised fetal cardiac function in cases with prenatal TAPS. Application of fetal left Mod-MPI in prenatal staging of TAPS might help evaluate the severity of TAPS and decide timely antenatal intervention.

High-oxygen-affinity hemoglobinopathy-associated erythrocytosis: Clinical outcomes and impact of therapy in 41 cases.

We describe presenting features, treatment strategies, and follow-up events involving 41 patients (median age 39 years, range 1-81; 54% males) with high oxygen affinity (HOA) hemoglobinopathy-associated erythrocytosis, seen at our institution (1973-2020). Thirty-four (83%) patients carried ß-chain (13 Malmo, 4 Olympia, 3 San Diego, 2 Wood) and 7 (17%) α-chain (4 Dallas and one each Columbia-Missouri, Jackson, and Wayne) variants. Median (range) hemoglobin (Hgb)/hematocrit (Hct), serum erythropoietin and p50 were 18 g/dL/52.9% (16-21.9/48-66), 10.4 mIU (4-36.3), and 20 mmHg (12-25), respectively. Family history was documented in 24 patients and history of thrombosis in two (5%). Treatment included phlebotomy in 23 and antiplatelet therapy in 21 patients. At a median follow-up of 10 years, 23 (56%) patients reported one or more symptoms that were thought to be related to their increased Hct while thrombosis was documented in 10 (24%) patients. Neither Hgb/Hct level nor active phlebotomy showed a significant correlation with either thrombotic or nonthrombotic symptoms (p > .1 in all instances). Among 23 pregnancies recorded, 78% resulted in live births and no fetal loss was attributed to erythrocytosis. The current study does not implicate Hgb/Hct level as a major contributor of morbidity in HOA hemoglobinopathy-associated erythrocytosis and suggests limited therapeutic value for phlebotomy.