Dysautonomia is an increasingly recognized and often debilitating condition, affecting an estimated 2 million people in the United States. 1 While there are many patients with very complex symptomatology who need help from multispecialty dysautonomia clinics, there are also patients who might benefit from their primary physician having a greater understanding of the disease process and the pathophysiology. This review and suggested management schemes are based on a greater than 80-year collective experience of the authors in caring for patients with not only syncope/presyncope, but many other symptoms collectively described as dysautonomia. For the purposes of this review, we will mostly use the term dysautonomia instead of postural orthostatic tachycardia syndrome or orthostatic intolerance to indicate the more varied symptoms of these patients beyond postural tachycardia or syncope variants. Frequent headaches, chronic fatigue, recurrent chest pains, nausea, irritable bowel symptoms, urinary retention, difficulty concentrating, and joint pain/myalgias (without overt inflammatory markers) can be seen in isolation in otherwise healthy adolescents and young adults. If the patient has one symptom, the case is not usually challenging and patients may be treated by their physicians after a relatively simple work up. However, when young patients complain of all or many of these symptoms, physicians may conclude they have myriad separate physical maladies or that their complaints are psychosomatic. We contend in this article that patients with such "positive review of systems" can in fact have dysautonomia, a "forme pleine" of common orthostatic intolerance. The following case illustrates this view with discussion of pathophysiology, diagnosis, and treatment.
| C A S E REP ORTAn 11-year-old with a recent history of mononucleosis was seen in pediatric cardiology clinic after three episodes of syncope while standing. Systems review included headaches, postural lightheadedness, and difficulty concentrating. She was treated with salt tablets
AbstractDysautonomia is an increasingly recognized yet still poorly understood disease within the field of pediatrics. Symptoms, including dizziness, headaches, fatigue, joint pain, anxiety, and intolerance of heat or cold, are often significant and difficult to sort, especially in terms of their relation to each other. This often leads to referral to multiple subspecialists, who then proceed to treat seemingly familiar symptoms in kind.In the authors' experience, this leads to more frustration on the part of the patients and their physicians when symptom improvement does not follow (or can even worsen). On the other hand, by understanding the pathophysiology, treatment success is possible by directing therapies toward the root causes and just as importantly, enlisting the patient in a daily treatment plan. In the text that follows, we hope to convey these viewpoints by highlighting an involved case, discussing the pathophysiology, outlining the usual evaluation, and finally describing...