Joint hypermobility syndrome refers to increased joint flexibility beyond the normal range of motion. This syndrome has a benign form known as Ehlers-Danlos syndrome type 3. This is a disorder in which hypermobility is accompanied by clinical manifestations in the absence of any systemic disease. A clinical finding associated with this condition is postural orthostatic tachycardia syndrome. The following is a rare case of joint hypermobility syndrome and postural orthostatic tachycardia syndrome. The relevance of this case report lies in the impact that this disease had on the patient’s quality of life and the limitation in the performance of activities of daily living.
Joint hypermobility syndrome (JHS) refers to increased joint flexibility beyond the normal range of motion. Benign joint hypermobility syndrome, also known as Ehlers-Danlos syndrome (EDS) type 3, is the presence of hypermobility accompanied by clinical manifestations in the absence of a systemic disease. It is clinically diagnosed based on the maneuvers described in the Beighton score and the Brighton diagnostic criteria and after ruling out other causes [
This is the case of a 16-year-old female patient with a 4-year history of snapping sound in the joints of hips, elbows, and knees, especially in extension, with noninflammatory polyarthralgia and persistent headache. Her medical history included recurrent neurocardiogenic syncopal episodes since the age of 12, along with spontaneous recovery without sequelae.
Physical examination showed joint hyperlaxity in hands, elbows, wrists, knees, and hips, with a Beighton score of 7/9 (Figures
Hyperlaxity in the thumb.
Hyperlaxity in the elbow.
Cutaneous hyperlaxity.
Hyperlaxity in the hand.
Due to her history of neurocardiogenic syncope and joint hypermobility syndrome, after secondary causes were ruled out, she was diagnosed with JHS associated with orthostatic postural tachycardia syndrome (POTS). Nonpharmacological treatment was initiated, as well as increased fluid intake, sodium, postural therapy, among others. Clinical improvement was achieved due to a decrease in the frequency of syncopal episodes.
POTS was initially described in 1993 by Schondorf and Low as a disorder of the autonomic nervous system characterized mainly by orthostatic intolerance [
Although the definitions of POTS are strict, there are clinical variations in which not all the clinical findings mentioned above are observed, as in our patient’s case. Some subtypes of POTS are classified considering whether the patient has a high, low, or normal flow. So, POTS can be neuropathic, hyperadrenergic, or autoimmune and may be associated with mast cell activation disorder and blood volume deregulation. None of these conditions is mutually exclusive or clearly independent [
Patients with POTS sometimes have a history of viral infection or a family member with similar symptoms; however, the actual association is unclear. The pathophysiology of this disease is mainly due to autonomic nervous system dysregulation, sympathetic hyperactivity, and attenuated vagal tone, resulting in hypoperfusion [
Clinical manifestations and their relative frequencies in POTS.
Clinical manifestation | Frequency |
---|---|
Chronic fatigue | 85-95% |
Dizziness | 60-80% |
Palpitations | 40-55% |
Exercise intolerance | 50-85% |
Blurred vision | 70% |
Chest discomfort | 60% |
Headache | 50% |
Dyspnoea | 40% |
Syncope | 40-50% |
In the present case, although there was not a significant change in orthostasis, because there was not a decrease in systolic blood pressure (BP) of 20 mmHg or more or a decrease in diastolic BP of 10 mmHg or more, a significant variation in heart rate was indeed found when changing position. These symptoms should be present for at least six months and in the absence of another condition that could explain symptoms such as hydroelectrolytic alteration, secondary to drugs, among others. In our case, other causes were searched to explain the patient’s clinical manifestations, but there were no other possible associations, and the symptoms had been present for more than 6 months.
Other findings that are not usually considered in this disease are high noradrenaline levels (600 ng/mL) and excessive response to isoproterenol. The differential diagnosis of POTS is pheochromocytoma due to sympathetic hyperreactivity, which causes neuropathies such as diabetes and vasovagal syncope [
Joint hyperlaxity syndrome (JHS) is characterized by joint hypermobility and other musculoskeletal manifestations in the absence of another disease. Men tend to have less hypermobility than women, and prevalence is usually inversely correlated to age, being higher in younger patients. However, there is confusion in terminology [
The association between POTS and JHS can be explained by predominant peripheral neuropathy in the autonomous system and a failure of the peripheral vascular system to maintain resistance in areas exposed to stress due to orthostasis, blood stasis in the lower limbs, or pathologies of the central nervous system [
The goal of treatment is based on nonpharmacological measures such as increased fluid intake, sodium, postural therapy, and rest, along with a multidisciplinary rehabilitative approach, which prevents muscle loss and deconditioning. Patients should perform physical activity 3 to 4 times per week for at least 45 minutes, achieving a frequency between 75 and 80% of the expected maximum heart rate with a progressive increase, mainly from aerobic exercise. Using elastic compression stockings in the lower limbs is also recommended with a pressure of at least 20 mmHg to improve venous return. Pharmacological therapy, such as the administration of fludrocortisone at doses of 0.05 to 0.2 mg per day, seeks to increase sodium retention to achieve blood volume expansion. Midodrine can also improve vascular resistance. Increased vagal tone with pyridostigmine may control postural orthostatic tachycardia, which is a similar mechanism obtained with the use of beta-blockers [
Orthostatic postural tachycardia syndrome associated with joint hypermobility is rare. The detection of patients with or susceptible to this disease becomes a challenge for clinicians to provide timely treatment that reduces complications and improves patients’ quality of life.
We can get the data with the authors. There is a clinical record about the patient.
Imaging scans are disclosed with the patient’s prior consent.
We declare that a similar study was presented at the 21st PANLAR Congress.
The authors declare that they have no conflict of interest.