The incidence of pediatric venous thromboembolism (VTE) has been increasing in the past few decades and can be associated with significant mortality and morbidity. There are known risk factors associated with VTE, including estrogen therapy. However, the relationship between testosterone and VTE remains unclear. Here, we present a 17-year-old female-to-male transgender patient without a history of inherited thrombophilia, who developed pulmonary embolism while receiving testosterone injections for gender dysphoria. Despite the limited data on testosterone and the risk of VTE, health care providers should counsel patients and family about the possible increased risk of VTE when starting testosterone.
Hereditary fructose intolerance is a rare autosomal recessive metabolic disorder characterized by liver failure, renal tubulopathy, growth retardation, and occasionally death upon exposure to fructose. We present a 2-month-old male infant diagnosed with pyloric stenosis who developed disseminated intravascular coagulopathy following pyloromyotomy. Unexplained persistent coagulopathy, acute liver failure, and metabolic dysfunction led to whole-exome sequencing, which revealed compound heterozygous variants in ALDOB (p.Arg60Ter and p.Ala150Pro), diagnostic of hereditary fructose intolerance. Shortly after initiating a fructose-free diet, our patient had resolution of his coagulopathy, hepatic, and metabolic dysfunction.
Objective: Our aim is to (1) ascertain the proportion of pediatric patients at a tertiary hospital in Western Massachusetts over a 10-year period with hospital-acquired venous thromboembolism (VTE) of particular characteristics and (2) determine whether ACCP or Cincinnati Children’s guidelines would have recommended VTE prophylaxis in these patients. Setting: Urban teaching hospital in the United States. Participants: Data from 98 477 pediatric hospital admissions (roughly 10 000 admission per year) from 2008 to 2017 were reviewed. There were a total of 177 VTE cases identified. Outcome measures: Hospital-acquired venous thromboembolism (including deep venous thrombosis and pulmonary embolism). Result: 177 charts were extracted that carried the diagnosis of VTE based on ICD-9 and ICD-10 codes over a 10-year-period. Among these patients, 34 (19%) met the inclusion criteria for HA-VTE; 5 (16%) would qualify for prophylaxis according to ACCP and 7 (21%) according to Cincinnati Children’s guideline. The most common age group to have a VTE was infants under 1 year of age (41%), and the most common characteristic was the presence of a central line (82%). Age outside of the recommended range was the sole reason that excluded patients from prophylaxis qualification per Cincinnati Children’s. Conclusion: HA-VTE carries increased morbidity and mortality. Although recognition and prevention of HA-VTE in adult populations are routine, prophylaxis for pediatric HA-VTE is not commonly practiced. This may be due to paucity of strong evidence supporting prophylaxis and the challenge of identifying risk factors for HA-VTE. Our results suggest that published guidelines recommend prophylaxis in only a minority of pediatric patients who would have subsequently developed HA-VTE. Further modification and validation of current guidelines are needed to effectively prevent pediatric HA-VTE.
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