Emergency Department utilisation and diagnoses in adolescents with postural orthostatic tachycardia syndrome.

INTRODUCTION: Data for Emergency Department utilisation and diagnoses in adolescents with postural orthostatic tachycardia syndrome are lacking, making prevention of these visits more difficult to achieve. MATERIALS AND METHODS: We performed a retrospective study of patients with postural orthostatic tachycardia syndrome between ages 12 and 18 years seen in the Emergency Department at a large tertiary care children's hospital. These subjects were age- and sex-matched with controls, with volume of primary and total diagnoses assessed. Due to the relatively small number of subjects, a ± 3-year variance was used among control patients for age matching. RESULTS: A total of 297 patients in each group were evaluated. The percentage of female patients was 80.5%. The median age of the subjects was 15.1 years (interquartile range 14.1-15.9), and the median age of controls was 16.1 years (interquartile range 14.4-17.4) (p < 0.00001). Patients with postural orthostatic tachycardia syndrome had greater gastroenterologic and headache diagnoses (p < 0.00001); controls had greater autonomic and psychiatric diagnoses. DISCUSSION: Adolescent patients with postural orthostatic tachycardia syndrome who present to the Emergency Department have a preponderance of gastroenterologic and headache complaints versus controls.

Orthostatic heart rate does not predict symptomatic burden in pediatric patients with chronic orthostatic intolerance.

PURPOSE: Postural orthostatic tachycardia syndrome (POTS) in adults is defined as symptoms of chronic orthostatic intolerance (COI) and autonomic dysfunction (AD) with heart rate (HR) increase of 30 beats per minute (bpm), or HR > 120 bpm, during prolonged upright position. However, in adolescents, POTS is defined as symptoms of OI and AD with HR increase of ≥ 40 bpm, based on tilt table data. We assessed frequency of COI symptoms in pediatric patients versus HR criteria on prolonged standing to evaluate using criteria of increased HR of 30-39 bpm versus ≥ 40 bpm in our POTS Program. METHODS: Patients with COI with symptoms for > 3 months plus HR increase of ≥ 30 bpm on 10 min stand aged ≤ 18 years at diagnosis were included. Patients were divided into two groups: those with HR increase of 30-39 bpm, and those with HR increase of ≥ 40 bpm or upright HR of > 120 bpm. A total of 28 symptoms described prior to diagnosis were evaluated using chi-square testing to assess for significant differences. RESULTS: Only insomnia was found to be significantly different between the two groups. The other 27 symptoms showed no significant difference as a function of HR. CONCLUSION: There are minimal statistically significant differences and no clinical differences between patients as a function of HR increase during standing. Thus, a 40-bpm threshold for adolescents on standing test may be too high, or a specific HR criteria threshold is neither predictive nor definitive in diagnosing POTS.

Family history of associated disorders in patients with postural tachycardia syndrome.

INTRODUCTION: Postural tachycardia syndrome is more frequently being recognised in adolescents and adults. However, its pathophysiology remains undefined. We evaluated our database for patterns in family history of clinical symptoms and associated disorders in these patients. MATERIALS AND METHODS: Patients with postural tachycardia syndrome diagnosed in our clinic between 2014 and 2018 and who were less than 19 years at diagnosis were included. The history was reviewed for family members with postural tachycardia syndrome, dizziness and/or syncope, joint hypermobility with or without hypermobile Ehlers-Danlos syndrome, and autoimmune disorders. Statistical analysis assessed the entire cohort plus differences in gender, presence or absence of joint hypermobility, and presence or absence of familial autoimmune disease. RESULTS: A total of 579 patients met inclusion criteria. We found that 14.2% of patients had a family member with postural tachycardia syndrome, with male patients more likely to have an affected family member (20% versus 12.7%, p = 0.04). If the patient also had joint hypermobility, male patients were more likely to have a family member with postural tachycardia syndrome (25% versus 12.6%, p = 0.017), more than one affected family member (7.1% versus 0.74%, p = 0.001), and a family member with joint hypermobility (37.5% versus 23.7%, p = 0.032). Autoimmune disease was seen in 45.1% of family members, but more likely in female patients with concurrent hypermobility (21.1% versus 8.9%, p = 0.035). DISCUSSION: This in-depth analysis of associated familial disorders in patients with postural tachycardia syndrome offers further insight into the pathophysiology of the disorder, and informs further screening of family members in these patients.

Utilisation of medications to reduce symptoms in children with postural orthostatic tachycardia syndrome.

BACKGROUND: Postural orthostatic tachycardia syndrome encompasses multiple disabling symptoms that interfere with daily activities. Non-pharmacologic approaches can be insufficient and can require adjunctive medications to manage symptoms. Minimal data exist in the literature on medication outcomes in these patients. We reviewed our database for medication management outcomes.Materials and MethodsPatients aged 18 years and younger at initial diagnosis met the inclusion criteria. All prescribed patient medications were extracted from the electronic health record, excluding medications for unrelated symptoms or comorbid diseases. Medications were grouped by symptom class consistent with our programme utilisation protocol. Within symptom classification, therapy was deemed successful when a specific dose was prescribed at least five consecutive times without changes; this was confirmed by chart review. Individual medications and overall percentage of successful therapies within symptom classifications were assessed, with further analysis by gender. t-Test, χ2, and Mann-Whitney U-test were used to assess for differences in specific variables, as appropriate. RESULTS: A total of 708 patients met the study criteria. The percentage of patients with effective therapy by symptom includes light-headedness (52.2%), headache (48.2%), nausea (39.1%), dysmotility (43.4%), pain (53.4%), and insomnia (42.8%). Insomnia therapy was better for females; all other therapies showed no gender difference. The median number of therapies prescribed per patient per symptom was 2 for light-headedness, headache, and insomnia, and 1 for nausea, dysmotility, and pain.DiscussionSymptoms associated with this disorder can be effectively managed with various medications. Further randomised studies are needed to better ascertain true efficacy compared with placebo.

Therapy for fatigue and cognitive dysfunction in postural orthostatic tachycardia syndrome.

IntroductionSevere fatigue and cognitive dysfunction are frequent symptoms in patients with postural orthostatic tachycardia syndrome. They can be debilitating, and often do not resolve despite improvement in haemodynamic symptoms. Our analysis was intended to assess clinical outcomes of medication treatment for these symptoms in a large, single-centre paediatric programme.Materials and MethodsWe performed a retrospective review of patients treated for fatigue and cognitive dysfunction. Patients aged 18 years or younger at the time of initial diagnosis were included. Patients who had a specific medication ordered five or more times for these symptoms were confirmed by chart review for clinical improvement. Percentage of patients with clinical improvement for each medication and overall for all medications, as well as the number of medications per patient required to achieve improvement, were assessed. Data were analysed based on gender as well. t-Test and χ2 analyses were used to assess for differences between means in variables, or specific variables. RESULTS: A total of 708 patients met study criteria, of whom 517 were treated for fatigue or brain fog. Overall efficacy was 68.8%, with individual medication effectiveness ranging from 53.1 (methylphenidate) to 16.5% (atomoxetine). There was no significant difference in efficacy with respect to gender. The median number of medications used per patient was 2, without gender difference. Therapy was limited by side effects or lack of efficacy.DiscussionMedications are effective in the improvement of fatigue and cognitive dysfunction in these patients. However, trials of multiple medications may be needed before achieving clinical improvement.

Demographics of a large paediatric Postural Orthostatic Tachycardia Syndrome Program.

OBJECTIVE: The aim of this study was to identify and evaluate demographic and clinical features of paediatric patients with postural orthostatic tachycardia syndrome in a tertiary hospital speciality clinic. METHOD: This is a retrospective review of clinical data obtained during initial outpatient evaluation. RESULTS: A total of 708 patients met the evaluation criteria. Female patients outnumbered males, 3.45:1. Caucasians were over-represented at 94.1% of patients. Median age at diagnosis was 15.7 years. Joint hypermobility occurred in 57.3% of patients; 22.4% had hypermobile Ehlers-Danlos syndrome; and 34.9% had hypermobility spectrum disorder. Median age of onset of symptoms was 12.6 years in patients with hypermobility versus 13.7 years in those without (p=0.0001). Median duration of symptoms was 3.3 years with hypermobility versus 1.5 years without (p<0.00001). Putative triggers included infection in 23.6% of patients, concussion in 11.4%, and surgery/trauma in 2.8%. Concurrent inflammatory disorders were noted in 5.2% of patients. Six symptoms comprised 80% of initial patient complaints. Overall, 66% of patients subsequently had at least 10 symptoms, 50% had at least 14 symptoms, and 30% reported at least 26 symptoms. Symptoms were largely cardiovascular, gastrointestinal, and neurological. Paediatric patients with postural orthostatic tachycardia syndrome seen in a large speciality clinic are predominantly female, are mostly Caucasian, have onset of symptoms in early adolescence, and have symptoms for over two years before diagnosis. Over half of patients have joint hypermobility. More than one-third of patients have a possible autoimmune or inflammatory trigger, including infection, concussion, or surgery/trauma. Patients experience symptoms that are highly variable and multi-system in origin over the course of illness.

Prevalence of joint hypermobility syndromes in pediatric postural orthostatic tachycardia syndrome.

INTRODUCTION: Patients with postural orthostatic tachycardia syndrome (POTS) have been shown to exhibit comorbid joint hypermobility manifested as Ehlers-Danlos syndrome (EDS) or hypermobility spectrum disorder (HSD). The prevalence of EDS and HSD in POTS has been demonstrated in smaller studies combining adult and pediatric patients. We examined a large series of pediatric patients to determine their prevalence in children with POTS. MATERIALS AND METHODS: Patients 18 years old, or less, at initial evaluation at our clinic were included. POTS was diagnosed based on at least six months of frequent debilitating symptoms of orthostatic intolerance, plus a consistent heart rate increase of at least 40 beats per minute without orthostatic hypotension on standing test. Patients with a Beighton score of at least 5/9 plus other systemic findings suggestive of EDS were further evaluated in Connective Tissue Disorders clinics. RESULTS: There were 362 patients meeting inclusion criteria, of which 82 patients had EDS (22.7%) and 141 patients had HSD (39.0%). Patients with EDS had an earlier median age at symptom onset (12.1 vs. 13.5 years, p=0.004) and longer median symptom duration (2.5 vs. 1.5 years, p=0.0008) compared to patients without hypermobility. CONCLUSIONS: Our evaluation of a large series of pediatric patients with POTS revealed that over one-fifth of patients had EDS and over one-third of patients had HSD. The awareness of the prevalence of comorbidities such as hypermobility disorders may help inform providers diagnosing and caring for these patients.

Clinical Course of Transgender Adolescents with Complicated Postural Orthostatic Tachycardia Syndrome Undergoing Hormonal Therapy in Gender Transition: A Case Series.

Purpose: Postural orthostatic tachycardia syndrome (POTS), an increasingly recognized dysautonomia, may affect as many as 3,000,000 Americans. Concurrently, prevalence estimates suggest 10% of individuals identify as lesbian, gay, bisexual, transgender, or questioning/queer. The preponderance of female POTS patients implies hormonal differences between natal sexes and their role in POTS. Transgender POTS patients using hormone therapies may offer further insight into the mechanism of POTS. There have been no previously published studies of transgender patients with POTS undergoing gender-affirming hormone therapy. Methods: We reviewed our electronic health record for clinical histories of transgender patients in our POTS Database. Results: Three patients who transitioned from female to male demonstrated clinical improvement of their POTS symptoms with the addition of testosterone therapy. Conclusion: We present our clinical experience of three transgender POTS patients who transitioned from female to male with hormone therapy, all of whom demonstrated clinical improvement with testosterone. This may give further insight into the pathophysiology of POTS. However, the authors do not endorse the use of hormone therapy as primary therapy for the symptoms of POTS.