scholarly journals ECAST Syndrome (Exercise Collapse Associated with Sickle Cell Trait): First Knock of Sickle Cell in a Young Bodybuilder

Author(s):  
Janhavi Mahajan ◽  
Dhruv Talwar ◽  
Sunil Kumar ◽  
Sourya Acharya ◽  
Yogesh Kakde

ECAST Or exercise collapse associated with sickle cell trait is a rare phenomenon associated with sickle cell trait and is an important presentation of sickle cell disease in sports medicine. Collapse is seen following vigorous physical activity, which is due to excessive heat, dehydration and other factors associated with physical exercise. This rare syndrome is often missed by the treating physicians as a result of a lack of knowledge about this rare entity leading to massive underreporting. It is important to identify ECAST as a cause of the collapse in young athletes to prevent mortality and morbidity and in order to provide prompt treatment. We report a case of a 25- year-old young male who was a bodybuilder and reported to the gym after a one-year-long break due to lockdown restrictions of COVID19. After a vigorous exercise session, he collapsed in the gym and was brought to the emergency department. After proper history taking and examination, he was suspected to be a case of ECAST due to a history of a similar episode three years back which was treated as a case of exertional syncope with intravenous fluid therapy and a family history of Sickle cell trait with his mother and father both having sickle cell AS Pattern. Ultimately our patient turned out to be a case of Sickle Cell Trait with evidence of AS pattern on Hb electrophoresis and a small-sized spleen visualized on CT Scan of the abdomen. The patient was managed successfully with intravenous fluids and blood transfusion and was discharged in a stable condition. He was counseled about moderating his exercise and is doing well on follow-up.

2018 ◽  
Vol 5 (1) ◽  
pp. 35
Author(s):  
Titilope Olanipekun ◽  
Valery Effoe ◽  
Ganiat Adeogun ◽  
Agniezka Gaertig ◽  
Myrtle White ◽  
...  

Exertional rhabdomyolysis from sickle cell trait has been documented. Also, cases of rhabdomyolysis from the use of weight loss supplements in the setting of sickle cell trait and exertion have been described. However, the role of sickle cell trait in non-exertional rhabdomyolysis is not clear. We present a case of severe non-exertional rhabdomyolysis from weight loss supplement in a patient with sickle cell trait.A 45-year-old African American female with sickle cell trait presented to the emergency department with two days history of fatigue and mild breathlessness. She also reported diarrhea and vomiting for five days before presentation. She admitted to taking Garcinia cambogia (a dietary supplement) for weight loss one week prior to the onset of symptoms. She denied alcohol or drug use, rigorous physical activity or trauma.She was dehydrated on examination. Laboratory values revealed markedly elevated serum creatine phosphokinase (CPK) and creatinine levels. Garcinia cambogia was discontinued and she was hydrated with intravenous fluids. Her CPK and creatinine levels significantly trended down and she was discharged home with no apparent sequelae.Our patient had multiple episodes of diarrhea and vomiting likely from the use of Garcinia cambogia. We believe she suffered non-exertional rhabdomyolysis from dehydration in the setting of sickle cell trait. Though dietary weight loss supplements are marketed as generally safe, this case suggests otherwise. We emphasize that clinicians routinely inquire about use of these supplements and provide appropriate counseling to patients on the adverse effects, especially among those with sickle cell trait.


Author(s):  
Manjusha Shripad Dhawle ◽  
Ashwini Radhakrishan Tangde ◽  
Santosh Govind Rathod ◽  
Rajan S. Bindu

Background: Sickle cell disease (SCD) is well known and is the commonest hereditary hematological disorder which is associated with increased mortality and morbidity.  They are group of inherited haemoglobinopathies caused by the occurrence of hemoglobin S (Hbs) in homozygous or heterozygous form or in combinations of Hbs with another hemoglobin such as Hbsc or beta thalassaemia (Hbs-thal). Sickle cell syndromes are remarkable for their clinical heterogenecity including their presentations as sudden and unexpected death due to sickle cell crises. While doing autopsy in cases of deaths with no apparent cause and physical over activity medical officer must keep in mind the possibility of death due to vasoocclusive crisis in sickle cell disease. Aim of the study was to create awareness among the physicians and relatives / public and to minimize future unexpected death from complications or crisis from SCD.Methods: This is a retrospective study of 10 cases carried in the department of pathology, in tertiary care hospital and covers a period from January 2009 to December 2016. These cases were brought dead to the casualty with a history of sudden death. After post mortem examination, the specimens were sent for histopathological examination.Results: The record of 10 cases was reviewed. Out of our ten cases 7 were male and 3 were females. The youngest person was 17-year female and oldest was 65 years male. In clinical history 3 cases had complains of chest pain (30%), 3 others had complained of breathlessness (30%), 2 had history of unconsciousness (20%), one case had complained of abdominal pain (10%) and one case had a history of fall and injury (10%). Microscopic examination of each organ was carried out.  Organs like lungs, liver, spleen, kidneys, heart and brain showed wide spread congested vessels which were stuffed with RBC.Conclusions: We present this study to emphasize that sickle cell crisis is one of the cause of sudden unexplained death and highlight the importance of considering sickle cell disease as a cause of death in cases with no apparent cause.


Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 2298-2298
Author(s):  
Scott Moerdler ◽  
Ellen Fraint ◽  
Ellen Silver ◽  
Siobhan M Dolan ◽  
Kafui A Demasio ◽  
...  

Background: Sickle cell disease is one of the most common inherited red blood cell disorders, yet many are not aware of their carrier status (Treadwell, J Nat Med Assoc, 2006), which can lead to confusion around pregnancy and newborn diagnosis. Furthermore, data is emerging about the severe and life-threatening risks of sickle cell trait (Kark, NEJM, 1987 and Olaniran, Am J Nephro, 2019). The American College of Obstetricians and Gynecologists' guidelines recommend that pregnant women of African, Mediterranean and Southeast Asian descent be screened for hemoglobinopathies with a complete blood count (CBC) and hemoglobin electrophoresis (ACOG, Opinion #691, 2017). However, adherence to this practice and frequency of improper screening with Sickledex is unknown. Proper screening and counseling can impact families' knowledge and allow them to establish relationships with hematology providers earlier. Objectives: We sought to assess prenatal hemoglobinopathy screening practice patterns and methods of Obstetrics & Gynecology (OBGYN) and Family Medicine (FM) providers in the Tri-State regional area. Methods: A cross-sectional electronic survey was administered to OBGYN and FM practitioners from six tri-state area institutions using publicly available information and contacts at each institution. Questions focused on prenatal hemoglobinopathy screening practices using case scenarios with variations on parental trait status and ethnicities. Chi-square analyses were used to compare the two provider groups on categorical variables. Results: There were 167 total responses; 120 surveys were complete, of which 87 were OBGYN and 33 FM providers. Respondents were mainly faculty (69/120, 58%) and from academic medical centers (n=107). 42% of providers reported that they ask "76-100%" of their patients about a personal history of sickle cell disease or trait. When asked about the proportion of pregnant patients with a positive family history of a hemoglobinopathy, there was a significant difference between OBGYN and FM providers, with 95% of OBGYN providers responding that they screen "76-100%" of those patients as opposed to only 75% of FM providers screening with the same frequency (p=0.0034). When asked about screening practices for patients without a personal/family history of a hemoglobinopathy, OBGYN providers consistently screen more frequently (Figure 1). When analyzed by ethnic background, screening practices were significantly different only between the subspecialty providers who "always" or "often" screened for hemoglobinopathies in mothers of Asian descent (p=0.03). Over 73% of providers report that they "always" screen patients of Mediterranean, Asian, and Middle Eastern descent and 84% always screen patients of Black descent. Over 30% of all respondents said they would use Sickledex for screening in case scenarios for a Black/African American mother, even when it was already known that she is a sickle cell carrier. In cases where the mother's hemoglobinopathy status was unknown, over 80% of providers responded that they would "always" evaluate with a hemoglobin electrophoresis regardless of Black/African American or Mediterranean descent. In terms of referrals to Hematology, in a case where both parents have sickle cell trait 46% of providers would "never" refer that family to Hematology. Conclusion: This pilot survey highlights differences in the methods and likelihood of prenatal hemoglobinopathy screening based on the type of prenatal care provider. Screening differences can lead to variations in prenatal guidance, diagnostic procedures, informed decision-making and knowledge of families referred to pediatric hematology clinics. This is the first study analyzing prenatal screening for hemoglobinopathies in OBGYN and FM. This study demonstrates that not all prenatal providers adhere to existing ACOG recommendations regarding which patients to screen for hemoglobinopathies and suggests an actionable area in which to enhance education for prenatal providers. Specifically, providers need to be educated that the use of Sickledex is an inappropriate laboratory screening test, since it will not detect other hemoglobinopathies. Improving prenatal screening practices by collaborating with hematologists may increase adherence to guidelines and allow for earlier relationship building with hematology. Figure 1 Disclosures Manwani: GBT: Consultancy, Research Funding; Novartis: Consultancy; Pfizer: Consultancy.


PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 886-890
Author(s):  
Lori B. Andrews

The main purpose of screening is to identify infants with sickle cell anemia so that appropriate health care might be given to such infants. The following four types of legal issues will be considered: the extent to which existing state newborn screening laws can accommodate sickle cell anemia, the malpractice concerns related to sickle cell anemia screening, the need for protection of the confidentiality of the data collected by such testing, and the legal issues raised by discrimination against sickle cell carriers. These legal issues cannot be considered in a vacuum, however. Attention must be given to the history of sickle cell screening laws in this country. When state laws mandating sickle cell anemia screening were passed in the early 1970s, they were aimed at giving people information that was helpful for making reproductive choices. Two carriers who were married, for example, had a 25% risk of giving birth to a child with sickle cell anemia. However, because there were no health care measures that could be taken to cure an affected fetus or even to safely diagnose the condition prenatally, the only potential effect of the law was to deter such couples from having children altogether, a tactic criticized as genocidal. Moreover, the early laws lacked provisions for counseling and, thus, fostered misunderstanding and anxiety. The information collected by screening programs apparently also served as a basis for discrimination against people with sickle cell trait. The issues presented by sickle cell anemia screening of newborns are somewhat different because screening is not for the primary purpose of changing reproductive behavior but rather to identify infants who then can be treated.


Author(s):  
Ann Ng ◽  
Erin S. Williams

Sickle cell anemia (sickle cell disease) is a common hemoglobinopathy with anywhere from 90,000 to 100,000 Americans affected. This chronic condition has a predominance in populations of African descent, occurring in approximately 1 out of 365 African American births, compared to 1 out of 16,300 Hispanic births. The sickle cell trait can be detected in 1 of 13 African American births. One of the most common complications associated with sickle cell anemia, vaso-occlusive crises by sickled cells, results in severe pain. Other issues associated with this condition include acute chest syndrome, lung infections, end organ damage, and stroke. With improvements in the management and prevention of pain crises, infection, and other systemic involvement, these patients are living longer, thus increasing the potential for surgical needs. Whether it is for routine surgeries or surgeries that are due to the natural history of the disease; the pediatric anesthesiologist must be knowledgeable of the management of these patients in order to prevent morbidity and mortality.


Author(s):  
Obeagu Emmanuel Ifeanyi

Malaria is an endemic disease in the developing countries like Nigeria with high mortality and morbidity rates especially in children and pregnant women who are immune competent. A lot of measures have been taken to control malaria in this part of the world but is still major problem confronting person in the malaria endemic areas. Sickle cell trait has been shown to confer selective protective advantage to malaria on the persons possessing the hemoglobin genotype. This paper discussed the selective protective advantage of sickle cell trait to malaria.


Blood ◽  
2017 ◽  
Vol 130 (Suppl_1) ◽  
pp. 757-757
Author(s):  
Andria L Ford ◽  
Melanie E Fields ◽  
Kristin P Guilliams ◽  
Dustin K Ragan ◽  
Chen Yasheng ◽  
...  

Abstract Background: Sickle cell trait (SCT) is common, affecting 7-8% of African Americans. Previously thought to be of little clinical consequence except under conditions of severe hypoxic/metabolic stress, recent studies have shown that SCT is independently associated with chronic vascular diseases including kidney disease, coronary artery disease, overt stroke, and pulmonary embolism. It has been postulated that SCT underlies the increased prevalence of cerebrovascular disease in African-Americans after adjusting for excess risk factors. Prospective imaging studies evaluating the natural history of cerebral ischemia in SCT are lacking; thus, the true disease burden is unknown. In this study, we hypothesized that individuals with SCT are at increased risk of silent cerebral infarctions (SCI) compared to healthy young adults, but with a lower risk of SCIs compared to young adults with sickle cell anemia (SCA). We further evaluated and compared the patterns of SCIs within SCT and SCA. Methods: Three cohorts were prospectively recruited from a tertiary care referral center for pediatric and adult SCA: (1) young adults with SCA, (2) healthy, young adults with SCT, and (3) healthy, age- and race-matched, controls. Control and SCT subjects were excluded for history of hypertension, diabetes, anemia, dyslipidemia, chronic medical or neurological illness, or severe trauma; individuals with SCA were excluded if on chronic transfusion therapy or history of overt stroke, vasculopathy, or chronic neurological illness. Brain MRI T1 and FLAIR maps were evaluated for the presence of two lesion types (defined in Wardlaw et al, Lancet Neurol, 2013): (a) FLAIR lesions were defined as FLAIR hyperintensity > 3mm in diameter; (b) SCIs were defined as FLAIR lesions with the additional requirement of CSF-like hypointensity on T1. Thus, SCIs represented a subset of all FLAIR lesions. FLAIR lesions were outlined by a vascular neurologist using MIPAV (Medical Image Processing, Analysis and Visualization, https://mipav.cit.nih.gov/) from which individual lesion volumes were calculated. Baseline characteristics, prevalence of SCIs, and volume of FLAIR lesions in SCT were compared to controls and SCA (Fishers Exact for categorical variables; Mann-Whitney U for continuous variables). To evaluate the distribution of SCIs in SCT relative to healthy controls and SCA, three lesion density maps were created. Lesions drawn on FLAIR 5mm slice thickness were stretched in the z-direction to 10mm for display of SCI pattern on few slices. Results: Control, SCT, and SCA adults were similar with respect to baseline characteristics, except SCA subjects were younger and fewer female than SCT (Table). Ten (45%) of the SCA subjects were on hydroxyurea. We acquired LDL, glucose, and blood pressure to ensure that SCT participants did not have higher risk of SCIs compared to controls due to ongoing comorbidities (Table). Imaging Outcomes: We found greater FLAIR lesion volumes in SCT than controls (292 vs. 90 mm3, p=0.02) and a trend towards greater prevalence of SCIs -- 5 of 11 (45%) in SCT compared to 1 of 11 (9%) in controls (p=0.15). FLAIR lesion volumes and SCI prevalence were higher in SCA compared to SCT (p=0.01 and p=0.02, respectively). Lesion density maps (Figure) were created to evaluate SCI patterns in SCT and SCA. In the SCA cohort, lesion density was highest within the internal borderzone (where cerebral blood flow is at a nadir), while this region was relatively unaffected in SCT. In contrast, a distinct pattern of small cortical/subcortical strokes distributed in a stochastic pattern (not following any particular vascular territory) were found in both SCT and SCA. Conclusions: We found greater FLAIR lesion volumes and a trend towards a greater prevalence of SCIs in healthy individuals with SCT. We postulate that SCIs found in SCT may represent an etiologic subtype of SCIs found in SCA, representing microembolic events or a microvasculopathy, in contrast to the etiology of internal borderzone infarction which likely represents a heightened ischemic vulnerability within low CBF regions in the setting of chronic, severe anemia. Larger studies are necessary to determine if SCT carries a heightened risk of silent cerebral ischemia, which would impact society at large given the high prevalence of SCT and the known effects of SCIs on cognitive disability. Figure Figure. Disclosures Fields: Proclara Biosciences: Equity Ownership. Hulbert: Pfizer: Other: Spouse employment at Pfizer.


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