|Year : 2017 | Volume
| Issue : 2 | Page : 175-178
Benign joint hypermobility syndrome with postural orthostatic tachycardia syndrome and acrocyanosis
Navjyot Kaur, VA Arun, Shavana Rana, VK Sashindran
Department of Medicine, AFMC, Pune, Maharashtra, India
|Date of Web Publication||14-Mar-2017|
Department of Medicine, AFMC, Sholapur Road, Pune - 410 040, Maharashtra
Source of Support: None, Conflict of Interest: None
Benign joint hypermobility syndrome (BJHS) and postural orthostatic tachycardia syndrome (POTS) are two common conditions which are frequently overlooked. While patients with BJHS are known to attend rheumatology, orthopedic, and medical outpatient departments for years with polyarthralgia; POTS is commonly misdiagnosed as anxiety neurosis or panic attack. Described first in 1940, POTS is one of the common causes of orthostatic symptoms in females. POTS is defined as orthostatic intolerance associated with tachycardia exceeding 120 beats/min (bpm) or an increase in the heart rate (HR) of 30 bpm from baseline within 10 min of changing the posture from a lying to standing position, in the absence of long-term chronic diseases and medications that affect the autonomic or vascular tone. Classified as primary and secondary, the underlying pathophysiological mechanism is assumed to be a failure of peripheral vascular resistance to increase sufficiently in response to orthostatic stress, and consequently, venous pooling occurs in the legs resulting in decreased venous return to the heart. This is compensated by an increase in HR and inotropy. We present a case of BJHS, who reported to us with recurrent episodes of syncope and presyncope and was diagnosed to have POTS secondary to his hypermobility syndrome. Although the tilt-table test is the gold standard for diagnosis of POTS, this case highlights the importance of bedside tests in evaluation of orthostatic symptoms and in diagnosis of relatively common but frequently overlooked syndrome.
Keywords: Benign hypermobility syndrome, postural orthostatic tachycardia syndrome, tilt-table test
|How to cite this article:|
Kaur N, Arun V A, Rana S, Sashindran V K. Benign joint hypermobility syndrome with postural orthostatic tachycardia syndrome and acrocyanosis. Med J DY Patil Univ 2017;10:175-8
|How to cite this URL:|
Kaur N, Arun V A, Rana S, Sashindran V K. Benign joint hypermobility syndrome with postural orthostatic tachycardia syndrome and acrocyanosis. Med J DY Patil Univ [serial online] 2017 [cited 2019 Sep 17];10:175-8. Available from: http://www.mjdrdypu.org/text.asp?2017/10/2/175/202108
| Introduction|| |
Benign joint hypermobility syndrome (BJHS) is an easily overlooked diagnosis. Most commonly, the patients present with arthralgia involving one or more joints which may sometimes be generalized and symmetrical. The two major criteria for diagnosis of BJHS are a Beighton score ≥4 and arthralgia for longer than 3 months in 4 or more joints. Gazit et al. stated that 78% patients with BJHS experience orthostatic intolerance  and one of the most common manifestations of orthostatic intolerance is postural orthostatic tachycardia syndrome (POTS). It is defined as the presence of symptoms of orthostatic intolerance for at least 6 months accompanied by an increase of heart rate (HR) ≥30 beats/min (bpm) over supine resting values or an absolute HR >120 bpm within 10 min of assuming an upright posture, in the absence of orthostatic hypotension (a decrease in blood pressure [BP]) >20/10 mmHg) and other overt cause of orthostatic symptoms or tachycardia, for example, active bleeding, acute dehydration, medications. Almost all patients experience presyncope and lightheadedness, however, only a minority (≈30%) actually faint. Tilt-table test is the “gold standard” for diagnosing this disorder. Dependent acrocyanosis is a well-documented dermatological manifestation of POTS  and is documented in as many as 50% of patients with POTS. In this article, we present and discuss a case of BJHS with secondary POTS and dependent acrocyanosis.
| Case Report|| |
Our patient, a young 27-year-old male reported to us in October 2014 with a history of recurrent presyncope, syncope, and dependent acrocyanosis. A well-built athlete, who played soccer in the zonal team till 2010 was diagnosed to have BJHS in 2012 when he reported with a history of noninflammatory polyarthralgia involving almost all joints of the body of 2 years duration and feeling of “giving-way and splitting” of joints. His Beighton score was nine [Table 1]. There was no history of excessively loose skin, easy bruisability, scars on body, recurrent fractures, hernia, or rectal prolapse. There was no family history of similar complaints in the family. On examination, his height was 174 cm, upper segment-lower segment ratio was 0.98, and arm span-height ratio was 1.01 (within normal limit). There were no dysmorphic features, no ectopia lentis, sclera was normal, and muscular-skeletal system was within normal limit. Dermatological examination revealed no evidence of hyperelasticity or easy bruisability. Based on Beighton score and absence of features of any other connective tissue disorder, he was diagnosed to have BJHS as per Brighton criteria.
The present admission was for an episode of loss of consciousness. He gave a history of recurrent episodes of postural symptoms over the last 4 years. He also complained of transient bluish discoloration of fingers and toes which were positional and occurred on dependency of limbs. There was no history of similar changes on exposure to cold temperature. On examination, his body mass index was 22.7 kg/m 2, pulse - 64/min (regular), all peripheral pulses were well felt, BP was 116/84 mmHg with no postural fall, respiration was 12/min abdominothoracic, and arterial oxygen saturation was 96% at room air. BP and HR during the standing test are summarized in [Table 2]. Generalized joint hypermobility (Beighton score 9) [Figure 1],[Figure 2],[Figure 3],[Figure 4] and bilateral dependent acrocyanosis were present [Figure 5] and [Figure 6]. Systemic examination revealed no abnormality. On evaluation, hematology was within normal limit, erythrocyte sedimentation rate was 2 mm/h, C-reactive protein was 0.26 mg/dL (within normal limit), biochemical parameters including urine examination were normal. Blood sugar fasting/postprandial was 92/116 mg/dL. Electrocardiography (EEG) and two-dimensional echo were within normal limit, 24 h Holter study revealed no arrhythmia. Magnetic resonance imaging brain and EEG were normal. Noradrenaline levels (supine and standing) were normal (supine: 93.32 pg/ml [95–446]; standing: 133.11 pg/ml [95–446]). The patient was subjected to a battery of autonomic function tests [Table 3], all of which had normal results. A tilt-table test was performed which confirmed the diagnosis of POTS [Table 4]. Hence, the complete diagnosis was BJHS with POTS and acrocyanosis.
|Figure 4: Ability to flex spine and place palms to floor without bending knees|
Click here to view
| Discussion|| |
BJHS is diagnosed when two major criteria are met as per Brighton criteria. In our patient, the standing test revealed inappropriate tachycardia in the absence of hypotension [Table 2]. The diagnosis of POTS was confirmed with tilt-table test [Table 4].
The most accepted hypothesis for pathophysiology of POTS is that the peripheral vessels fail to constrict when there is orthostatic stress. As a result, the blood pools in legs leading to decreased venous return which is compensated by an increase in HR. POTS may be classified as primary or secondary. The partial dysautonomic form is the most common primary form. The secondary form of the disorder is seen in conditions associated with autonomic neuropathy, for example, diabetes mellitus or amyloidosis, and in conditions that may be associated with intrinsic abnormalities in capacitance vessels, for example, hypermobility syndromes.
The management of POTS consists of nonpharmacological and pharmacological measures. The nonpharmacological measures include avoiding dehydration, ethanol, and drugs which exacerbate orthostatic hypotension, increasing fluid and salt intake, the use of compression stocking (30–40 mmHg counter pressure), and exercise to increase the leg muscle tone. The pharmacological measures include use of drugs such as fludrocortisone, desmopressin, fluoxetine, clonidine, and midodrine.
Our patient was advised increased fluid and salt intake to which he responded well with a significant decrease in his symptoms. All his orthostatic symptoms appeared after he had stopped playing football when he became symptomatic with polyarthralgia. This may be explained by the loss of muscle tone consequent to cessation of sporting activity. However, he was advised abstinence from any form of competitive sports and strenuous exercise because of the risk of musculoskeletal injury as he also had BJHS.
| Conclusion|| |
BJHS and POTS are both overlooked diagnosis. The patients presenting with polyarthralgia should be examined for generalized joint hypermobility. Standing test for 10 min should be done in all patients presenting with orthostatic symptoms, to look for inappropriate tachycardia without fall in BP. Secondary POTS should always be sought in patients of BJHS. Appropriate diagnosis and management of BJHS with POTS would significantly improve outcomes for patients suffering from these syndromes.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Simpson MR. Benign joint hypermobility syndrome: Evaluation, diagnosis, and management. J Am Osteopath Assoc 2006;106:531-6.
Grahame R, Bird HA, Child A. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 2000;27:1777-9.
Gazit Y, Nahir AM, Grahame R, Jacob G. Dysautonomia in the joint hypermobility syndrome. Am J Med 2003;115:33-40.
Low PA, Sandroni P, Joyner M, Shen WK. Postural tachycardia syndrome (POTS). J Cardiovasc Electrophysiol 2009;20:352-8.
Raj SR. The postural tachycardia syndrome (POTS): Pathophysiology, diagnosis and management. Indian Pacing Electrophysiol J 2006;6:84-99.
Raj SR. Postural tachycardia syndrome (POTS). Circulation 2013;127:2336-42.
Schondorf R, Low PA. Idiopathic postural orthostatic tachycardia syndrome: An attenuated form of acute pandysautonomia? Neurology 1993;43:132-7.
Grubb BP, Kosinski DJ, Kanjwal Y. Orthostatic hypotension: Causes, classification, and treatment. Pacing Clin Electrophysiol 2003;26(4 Pt 1):892-901.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
[Table 1], [Table 2], [Table 3], [Table 4]