A Case Report and Review of Postural Orthostatic Syndrome in an Adolescent
Lynn D.MohrPhD, APN, PCNS-BC, CPNAbstract
Because there are many young women between the ages of 12 and 25 years who have been diagnosed with postural orthostatic syndrome (POTS), with the time to the diagnosis of about 5 years, it is important for health care providers to have an understanding of the clinical presentation of POTS to manage the diagnosis appropriately. The purpose of this article is to present a case study review of an adolescent woman who experienced POTS syndrome at age 16 years and to provide a clinical overview of POTS in the adolescent population.Key Words
Adolescent care, cardiac, gastrointestinal disorder, postural tachycardia syndrome, POTSPOSTURAL TACHYCARDIA SYNDROME
Postural tachycardia syndrome (POTS) was first recognized in 1993 by neurologist Dr. Philip low and his research team (Schondorf & Low, 1993). Other names, associated with the term POTS are DaCosta’s syndrome, soldier’s heart, mitral valve prolapse syndrome, neuro-circulatory asthenia, chronic orthostatic intolerance, and orthostatic tachycardia (Dysautononia International, 2012). For children and adolescents, POTS is suspected in the presence of dizziness, weakness, and tachycardia (Kizilbash et al., 2014: Raj & Levine, 2013). Tachycardia associated with POTS is defined as a heart rate increase of more than 30 beats per minute (bpm) for those older than 19 years and an increase of more than 40 bpm for those younger than 19 years within the first minutes of standing upright (Kizilbash et al., 2014; Raj & Levine, 2013). There is no drop in blood pressure (BP) and no other obvious cause (such as active bleeding, medications, or acute dehydration) for the tachycardia, and the tachycardia persists longer than 6 months (Kizilbash et al, 2011; Raj & Levine, 2013). Other symptoms associated with POTS include sweating, temperature regulation issues, and altered bowel and bladder function (Raj, 2013). It is estimated that 500,000 Americans report being affected with POTS, most of them women between the ages of 12 and 25 years (Agarwal, Garg, Ritch. & Sarker, 2007).POTS is thought to result from a malfunction in the autonomic nervous system, which regulates bodily functions not under conscious control such as heart rate, blood pressure, body temperature, breathing, and digestion (Benarroch, 2012). No single mechanism explains the clinical presentation of POTS. One theory suggests that outward symptoms are a result of a combination of processes that causes decreased blood return to the heart, producing the clinical symptoms seen (Benarroch, 2012). The dysfunctional process involves the messages sent to blood vessels, typically by the nerves, that tell the blood vessels when to expand and contract. For patients with POTS, the blood vessels become overdilated, and the blood pools in the lower part of the body, resulting in decreased blood flow to the head (Benarroch, 2012). The heart attempts to compensate for the reduced blood flow by increasing the heart rate, and thus patients report symptoms of dizziness and lightheadedness upon standing (Benarroch, 2012).
CASE DESCRIPTION
Mandy, a 19-year-old woman says that up until her sophomore year in high school, she had been a good student, was involved in athletics, and had many friends. It was during her sophomore year that she began to experience severe abdominal pain, had frequent headaches, would faint on occasion, and experienced fatigue to the point that she had difficulty getting out of bed. Various health care providers, including her pediatrician and the gastro-enterologist to whom she was referred, failed to find a physical cause for her symptoms. Unsure of a medical diagnosis, health care providers referred the girl to a psychiatrist for what was termed “manipulative malingering” behavior, and she was admitted to a mental health unit for treatment. She spent her sophomore year in this facility, where, as she tells the story, she was placed in a wheelchair and was not allowed out until she no longer fainted. All the while her fatigue, abdominal pain, and headaches continued in addition to her fainting. After a year of psychiatric treatment and no change in physical behavior, she was discharged. Within days of her hospital discharge, a neighbor had been watching a health news segment on the evening news talking about something called postural tachycardia syndrome, or POTS for short. As soon as the segment was over, the neighbor contacted Mandy’s mother and relayed what she had heard, noting that much of what was said sounded like what she was experiencing. The neighbor encouraged her mother to contact her pediatrician and ask for a cardiology referral. Having no other options, her mother called the pediatrician and requested a cardiology consultation, where Mandy learned that she indeed had POTS.POTS CLASSIFICATIONS
Classified by primary and secondary forms, primary POTS is considered idiopathic and not associated with any other disease, whereas secondary POTS occurs in conjunction with a known disease or disorder (Grubb, Kanjwal, & Kosinski, 2006). Within each classification are forms of POTS. Primary POTS forms include partial dysautonomic and hyperadrenergic. Within the partial dysautonomic subtype are two forms called developmental, which seems to affect adolescents, and post-viral. Secondary POTS occur in conjunction with diseases such as diabetes, joint hypermobility syndrome, and paraneoplastic syndrome (Grubb, Kanjwal, & Kosinski, 2006).Primary POTS
Patients with primary partial dysautonomic POTS present with a mild form of peripheral autonomic neuropathy in which the peripheral vasculature cannot maintain or initiate vascular resistance in the presence of gravitational pull; thus, blood pools in the lower extremities (Grubb, Kanjwal, & Kosinski, 2006). Of this type, there is 5:1 female-to-male ratio. The developmental subtype of partial dysautonomic POTS seems to affect adolescents (Grubb, Row, & Calkins, 2005). Developmental POTS symptoms begin t or around age 14 years and worsen until about age 16 years, many times leaving the adolescent inapacited (Grubb, 2008). Once symptoms have peaked, 80% of adolescent diagnosed with developmental dysautonomic POTS is not known, it has been linked to the temporary autonomic imbalance that often occurs in the rapidly growing adolescent (Grubb, Kanjwal, & Kosinski, 2006).Another form of partial dysautonomic POTS is triggered after an acute viral or bacterial infection such as the flu, mononucleosis, or gastroenteritis. After these illnesses, it appears that patients have difficulty recovering and continue to experience fatigue, flu-like illness, dizziness, nausea, and headaches (Grubb, Kanjwal, & Kosinski, 2006).
Hyperadrenergic POTS occurs when naturally occurring stimulants (adrenaline and noradrenaline) are present in higher levels, which can lead to an increase in heart rate and blood pressure; thus, patients present with both an increased blood pressure and an increased heart rate when standing (Grubb, Row, & Calkins, 2005). Patients experiencing this form of POTS often report a slower more progressive onset of symptoms over a long time (Grubb, Row, & Calkins, 2005).
Secondary POTS
Secondary POTS refers to syndromes that occur as a result of another underlying condition that leads to damage of the nerves that control blood distribution. These conditions include diabetes, lupus, alcoholism, and chemotherapy (Grubb, Row, & Calkins, 2005).Another form of the secondary POTS is the connective tissue disorder known as joint hypermobility syndrome (Gazit, Nahir, Grahame, & Jacob, 2003). This syndrome is due to the replacement of certain types of collagen with a more elastic type and results in weak connective tissue; joint hypermobility; and soft, velvety skin (Gazit et al., 2003).
The third form of secondary POTS, Known as paraneoplastic syndrome, is associated with adenocarcinoma of the lung, breast, ovary, and pancreas (Grubb, Kanjwal, & Kosinski, 2006). With these tumors, the syndrome is thought to develop in response to the production of autoantibodies against acetylcholine receptors in the autonomic ganglia, much like what is seen in the postviral syndrome form (Grubb, Kanjwal, & Kosinski, 2006). Post-viral POTS is triggered following an acute viral infection , such as the flu, where patients do not seem to get better and continue to experience fatigue, dizziness, nausea, headaches (Grubb, Kanjwal, & Kosinski, 2006).
SYMPTOMOLOGY
The clinicals symptoms of POTS fluctuate on a daily or weekly basis and can vary among patients (Brewster et al., 2012; Heyer, Fedak, & Legros, 2013). For adolescents, symptoms worsen over time and peak at or about 16 years of age, with some adolescents reporting symptoms becoming so severe that they become functionally disabled (Kizilbash et al., 2013). Some adolescent patients report symptoms beginning after a viral infection or after repeated concussions (Kizilbash et al., 2013). For up to 75% of adolescent patients, POTS symptoms may improve or even disappear by age 21 to 25 years (Agarwal et al., 2007). A list of the most common presenting symptoms adapted from Johnson et al. (2010) is presented in the Box.Although the most common symptom associated with POTS is an abnormal increase in heart rate upon standing, the clinical presentation is often more involved, with some patients presenting with a corresponding drop in BP and others presenting with a normal or slightly elevated BP (Grubb, Kanjwal, & Kosinski, 2006). For adolescent, it should be noted that POTS symptom presentation may not correlate with the degree of postural tachycardia, because some adolescents can have postural changes in heart rate normally (Kizilbash et al., 2013).
One of the most common symptoms reported in adolescents suspected for POTS is dizziness (vertigo) with or without a headache upon standing (Heyer et al., 2013). Literature reports that headaches and POTS often occur together with 66% of patients experiencing chronic headaches with dizziness and 33% experiencing headaches alone (Heyer et al., 2013). It can be difficult to determine whether a headache is associated with POTS because adolescents frequently experience migraine headaches, and some of the same clinical symptoms that present in migraines also present in POTS headaches (Kizilbash et al., 2013).
Syncope is another common symptom present in POTS. Pilcher and Saarel (2014) report that about 15% to 30% of adolescents report fainting at least once and that about 50% of these adolescents report fainting on multiple occasions, yet many adolescents do not seek medical care. Although most fainting is benign, it is always important to differentiate simple fainting from serious medical problems.
Adolescents have described fatigue with POTS. In the overall pediatric population, about 20% report feeling of fatigue associated with other medical conditions or postinfectious processes (Pilcher & Saarel 2014). It can be difficult to determine if fatigue is related to an illness or is simply the result of not getting enough sleep (Raj, 2013). It is reported that only about 20% of American adolescents get the recommended amount of sleep (Wang et al., 2015). For adolescents with POTS, the associated fatigue can affect their ability to participate in daily activities to the extent that some report an inability to get out of bed (Kizilbash et al., 2013).
Gastrointestinal symptoms such as abdominal pain, nausea, and vomiting are often reported in adolescents experiencing POTS (Wang et al., 2015). These symptoms are thought to be associated with the enteric nervous system dysfunction causing gastric arrhythmias and dysmotility. Some studies have shown that many patients with POTS have abnormal gastric emptying and low gastric accommodation (Loavenbruck et al., 2015; Wang et al., 2015). Wang and colleagues (2015) reported that nearly 30% of their study population of 28 participants reported a diagnosis of irritable bowel syndrome, with another 7% reporting a diagnosis of inflammatory bowel disease.
Dermatologic symptoms associated with POTS are very common and may include erythromelalgia, livido reticularis, hives, varicose veins, and Raynaud’s phenomenon (Huang, Deb, Culbertson, Morgenshtern, & Hohler, 2016). In their study, Ojha, Chelimsky and Chelimsky (2011) reported that 74.1% of pediatric patients experienced Raynaud’s phenomenon alongside POTS.
BOX. Common presenting symptoms for postural orthostatic tachycardia syndrome (POTS)
MISDIAGNOSIS
The average time to a diagnosis of POTS for any patient is about 5 years (Newman, 2016). In a web-based survey that targeted individuals with a diagnosis of POTS, 83% of respondents reported being given a psychological diagnosis prior to being diagnosed with POTS (Dysautonomia International, 2013). Because some of the physical symptoms of POTS, such as tachycardia and palpitations, may mimic symptoms of anxiety or panic disorder, patients can be misdiagnosed. Research has reported that POTS patients are similarly or even less likely to suffer from anxiety or panic disorder than the general public (Brewster et al., 2012; Peggs et al., 2012; Wagner, Isenmann, Ringendahl, & Haensch, 2012).Because some of the physical symptoms of POTS, such as tachycardia and palpitations, may mimic symptoms of anxiety or panic disorder, patients can be misdiagnosed.
In the adolescent population, one key consideration in diagnosing POTS is the determination of whether or not the postural tachycardia and its associated symptoms interrupt the adolescent’s normal activities (school and sports) or if the symptoms are related to discomfort (dizziness, pain; Kizilbash et al., 2013). Grubb (2008) reported that about 25% of patients with POTS cannot attend school or work.
CLINICAL EVALUATION
Clinical evaluation should begin with a detailed family history assessing for the presence of cardiac rhythm disorders or cardiomyopathies (Kizilbash et al., 2013). A complete patient history should include assessment of when the symptoms began (cardiac, gastrointestinal, any temperature regulation concerns, or excessive sweating), symptom progression, fluid and caffeine intake, the level of physical activity, sleep pattern, response to previously tried treatments, and the use of medications. A thorough physical examination should be undertaken with particular attention to an overall assessment of appearance, color of distal extremities when standing, pupillary size, and any notable changes (including BP measurements) when moving from a sitting to standing position.Diagnostic testing varies depending on history and patient presentation. Testing may include a tilt table test monitoring for heartrate variability; the stand test; and tests such as an electrocardiogram, echocardiography, 24-hour Holter monitor, testing plasma catecholamine levels in blood or urine, gastrointestinal or urologie evaluations, and behavioral medicine evaluation (Park, Singer, Sletten, Low, & Bharucha, 2013; Sheldon et al, 2015). Other recommendations include screening for ferritin, Vitamin D, and Vitamin B12 levels, because low levels are common in the adolescent population (Antiel, Caudill. Burkhardt, Brands, & Fischer, 2011; Oner et al., 2014). Diagnostic testing for other underlying or contributing conditions such as an autoimmune disease, Ehlers-Danlos syndrome, or mast cell disorders should be considered (Wallman, Weinberg, & Hohler, 2014).
The tilt table test with heartrate variability is used in diagnosis of suspected POTS. During this test, the adolescent is tilted with the head up around 60° for up to 45 minutes. During the test, patients with POTS will experience an increase in heart rate by at least 40 bpm, but the corresponding blood pressure may remain normal (Carew et al., 2009). Another measurement used is the stand test, in which the patient’s heart rate and blood pressure are measured while supine and then again after standing at 2-, 5-, and 10-minute intervals, each time observing for puffiness and a purplish discoloration of feet and/or hands. When changes in heart rate and blood pressure are seen in conjunction with a sustained heart rate increase greater than 40 bpm, a diagnosis of POTS is likely (Carew et al, 2009). More detailed tests to evaluate the autonomic nervous system in POTS patients, such as the quantitative sudomotor axon reflex test (called QSART or sometimes Q-Sweat), the thermoregulatory sweat test, small-fiber nerve skin biopsies, and gastric motility studies may also be performed (Low. 2003).
MANAGEMENT
Initial management of POTS should focus on treating underlying causes found during the diagnosis such as acute blood loss or medications (Grubb, Kanjwal, & Kosinski, 2006). Medication thought to be worsening the patient’s symptoms should to be stopped (Grubb, Kanjwal, & Kosinski, 2006). For maximum benefit, treatment plans should include a combination of therapies directed toward relieving low blood pressure or regulating circulatory problems (Kizilbash et al., 2014).The most common treatments for POTS include increasing fluid intake to 2 to 3 L per day; increasing salt consumption to 3,000 mg to 10, 000 mg per day; wearing compression stockings; raising the head of the bed (to conserve blood volume); reclined exercises such as rowing, recumbent bicycling, and swimming; maintaining a healthy diet; avoiding substances and situations that worsen orthostatic symptoms; and medications (Raj, 2013; Raj & Levine, 2013). Medication classes used in the treatment of POTS may include benzodiazepines, beta blockers, antidepressants, vasoconstrictor, selective serotonin reuptake inhibitors, and serotonin norepinephrine reuptake inhibitors (Raj, 2013; Raj & Levine, 2013).
PATIENT, FAMILY, AND SCHOOL EDUCATION
It is important to educate the patient, family, and school staff about POTS, particularly because it can mimic common aspects of anxiety, phobias, and depression. When information is not clear, patients and parents may become hypervigilant, and what would be thought of as a normal bodily function may be misinterpreted as something more severe and may seem to require emergent care (Benarroch, 2012; Kizilbash et aL 2014). The patient and family should be given clear information regarding diagnosis, management, and prognosis to help reduce the fear and anxiety associated with the possibility of an undiagnosed life-threatening disease (Kizilbash et aL., 2014). A list of potential resources for patients and families with POTS is listed in the Table. Developing a plan of when and whom to call when worrisome symptoms arise can provide support to the patient and family. Encouraging adolescents to participate in as many of their normal activities as possible can help decrease the anxiety and depression often associated with POTS (Kizilbash et al., 2014).Educators and parents must work together to devise creative ways to help ensure the adolescent’s success in school. Patients and parents should contact their school health provider, who could offer to facilitate support in the academic environment. Accommodations should be individualized to specific issues to aid the adolescent in both the successful return to school and in school continuance. There are two options for the adolescent with POTS, the individualized education program (lEP) and a 504 plan. Sometimes children are placed on both an IEP and a 504 plan. When providing care to children with POTS and their families, it is a good idea to either contact or encourage parents to contact the child’s school to find out which plans and accommodations might be necessary. These 504 plans/IEPs are a good way for parents to make sure that their children are receiving appropriate accommodations and that the school faculty is informed of conditions that may affect students’ behavior and learning. Furthermore, parents should be encouraged to stay in regular contact with their child’s teacher so that gaps in education caused by hospitalization or illness can be appropriately accommodated.
Aucun commentaire:
Enregistrer un commentaire