UNASSIGNED: Left renal vein compression (nutcracker physiology) with secondary spinal epidural venous congestion is a newly recognized cause of daily persistent headache. Presently, only women with underlying symptomatic hypermobility issues appear to develop headache from this anatomic issue. The hypothesized etiology is an abnormal reset of the patient\'s cerebrospinal fluid (CSF) pressure to an elevated state. Headaches that occur during sleep can have a varied differential diagnosis, one of which is elevated CSF pressure. We present the case of an older woman who began to develop severe wake-up headaches at midnight. She was found to have left renal vein compression and spinal epidural venous congestion on imaging. After treatment with lumbar vein coil embolization, which alleviated the spinal cord venous congestion, her headaches alleviated.
UNASSIGNED: A 61-year-old woman with a history of hypermobile Ehlers-Danlos syndrome began to be awakened with severe head pain at midnight at least several times per week. The headache was a holocranial, pressure sensation, which worsened in the supine position. The headaches were mostly eliminated with acetazolamide. Because of her hypermobility issues and pressure-like headache, she was investigated for underlying nutcracker physiology and spinal epidural venous congestion. This was confirmed using magnetic resonance (MR) angiography and conventional venography, and after lumbar vein coil embolization her wake-up headaches ceased.
UNASSIGNED: The case report suggests a possible new underlying and treatable cause for early morning, wake-up headaches: nutcracker physiology with secondary spinal epidural venous congestion. The case expands on the clinical headache presentation of nutcracker physiology.

The hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are connective tissue disorders characterized by generalized joint hypermobility, associated with chronic pain and several symptoms, such as fatigue, dysautonomia, as well as psychiatric co-morbidities. Clinical observations of unusual manifestations during systematic sensory testing raised the question of a possible co-existence with a functional neurological disorder (FND). Hence, this study aimed to assess the presence of positive functional neurological signs (FNS) in a cohort of patients with hEDS/HSD.
The clinical data of hEDS/HSD patients (N = 24) were retrospectively analyzed and compared to a prospectively recruited age-/sex-matched healthy control group (N = 22). Four motor- and three sensory-positive FNS were assessed.
Twenty-two patients (92%) presented at least one motor or sensory FNS. Five patients (21%) presented only a single FNS, 14 presented between 2 and 4 FNS (58%), and 3 patients presented 5 or more FNS (12%). None of the healthy controls presented motor FNS, and only two presented a sensory FNS.
The presence of FNS in hEDS/HSD deserves better clinical detection and formal diagnosis of FND to offer more adequate care in co-morbid situations. In fact, FND can severely interfere with rehabilitation efforts in hEDS/HSD, and FND-targeted physical therapy should perhaps be combined with EDS/HSD-specific approaches.

Children with hypermobility spectrum disorder/hypermobile Ehlers-Danlos syndrome (HSD/hEDS) have a high prevalence of chronic pain, which may influence gait dynamics. However, little is known about pain outcomes and their association with gait spatiotemporal parameters in children with HSD/hEDS.
Does pain correlate with gait spatiotemporal parameters in children with HSD/hEDS?
Eighteen children with HSD/hEDS and eighteen typically developing (TD) children participated in the study. The current level of pain (0-10 on the numeric rating scale), modified Brief Pain Inventory, and Pain Catastrophizing Scale-Child version were implemented to assess pain in children with HSD/hEDS. All children completed a gait analysis at a self-selected speed. Mean and variability (measured using the coefficient of variation) of gait spatiotemporal parameters were analyzed. Gait parameters included stride length, stride time, gait speed, percent stance time, and step width. A Mann-Whitney U-test was used to compare the gait parameters between children with HSD/hEDS and TD children. Spearman correlations were used to examine the relationships between pain and gait spatiotemporal parameters in children with HSD/hEDS.
Children with HSD/hEDS had a longer percent stance time compared to TD children (p = 0.03). Lower pain interference in relationships with other people was significantly associated with faster gait speeds (ρ = -0.55, p = 0.03). Children with HSD/hEDS also had greater pain interference during mobility (ρ = 0.5, p = 0.05) and going to school (ρ = 0.65, p = 0.01), which were significantly correlated with greater stride length variability. Greater pain interference during enjoyment of life was significantly associated with greater percent stance time variability (ρ = 0.5, p = 0.05). Greater pain catastrophizing was correlated with decreased step width variability in children with HSD/hEDS (ρ = -0.49, p = 0.05).
Pain interference and catastrophe were significantly associated with gait spatiotemporal variability. Our findings suggest that assessing pain-associated gait alterations may help understand the clinical features and gait kinematics of children with HSD/hEDS.

BACKGROUND: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a connective tissue disorder characterized by joint hypermobility and other systemic manifestations, such as cardiovascular symptoms, musculoskeletal pain, and joint instability. Cardiovascular symptoms, such as lightheadedness and palpitations, and types of dysautonomia, including postural orthostatic tachycardia syndrome (POTS), are frequently reported in adults with hEDS and have been shown to negatively impact quality of life (QoL).
OBJECTIVE: This brief review will be an overview of co-occurring symptoms in POTS and hEDS to inform potential cardiovascular screening procedures.
RESULTS: While many patients with hEDS report cardiovascular symptoms, few have structural abnormalities, suggesting that dysautonomia is likely responsible for these symptoms. One validated screening measure for dysautonomia symptom burden is the Composite Autonomic Symptom Scale (COMPASS-31). Studies have found that adults with POTS, hEDS, and both POTS and hEDS have higher COMPASS-31 scores than the general population, suggesting a high symptom burden due to dysautonomia, which leads to impaired QoL.
CONCLUSIONS: While studies have examined cardiovascular symptoms and the impact of dysautonomia in adults with and without hEDS, there is scant literature on dysautonomia in pediatric patients with hEDS. Therefore, more studies on cardiovascular symptoms and dysautonomia, as they relate to the quality of life in pediatric patients with hEDS, are needed. This brief review summarizes the current literature on dysautonomia and cardiovascular symptoms in pediatric and adult populations with hEDS.

The Ehlers-Danlos syndromes (EDS), a group of uncommon connective tissue disorders, are, paradoxically, an increasingly common referral to genetics specialists. Of the 13 types of EDS, the most common is hypermobile EDS (hEDS), which lacks a known genetic etiology and for which diagnosis is achieved via a robust set of clinical criteria. While previous investigations have characterized many clinical aspects of EDS as a syndrome and patients\' lived experiences, a gap in the literature exists regarding clinicians\' experience caring for these individuals. This study sought to understand the effects of hEDS patient referrals from genetic counselors\' perspectives. To capture these novel views and values, we conducted semi-structured interviews with 15 participants who were members of the National Society of Genetic Counselors (NSGC) and had experience working with the hEDS patient population. Interview questions explored the frequency of hEDS referrals in their clinic, investigated their roles and responsibilities as genetic counselors when working with this population, analyzed their workflow for this indication, assessed the impacts on their professional satisfaction, and explored potential options for improving workflow and care for the hEDS patient population. Reflexive thematic analysis yielded four themes: (1) Referrals for hEDS have generally increased over time and many institutions have implemented new policies to control this influx, (2) genetic counselors\' primary roles include education and addressing psychosocial matters for this population, (3) genetic counselors feel both rewarded and challenged by these referrals, and (4) genetic counselors call for more education and training on hEDS for all healthcare specialties. Our findings provide a better understanding of the goals of the hEDS patient referrals to genetics specialists and the opportunities and challenges those referrals present. Genetic counselors have specific training and skills in psychosocial counseling and communication, in some ways making them ideal care providers for this population. However, they are simultaneously a scarce resource and the complex medical issues presented by many patients with hEDS make multidisciplinary management essential. We conclude with potential avenues for improving interactions with this population.

UNASSIGNED: Narrative Medicine complements the clinically centered approach, which focuses on the analytical and sanitary aspects, with the illness- and disorder- centered models, which deal respectively, with personal coping and social perception of a condition. Hypermobile Ehlers- Danlos Syndrome and Behçet\'s Disease are two rare multisystemic chronic disease experienced a myriad of clinical symptoms, psychological distress, and poor quality of life. The purpose of this report is to describe application of a multidisclipinary rehabilitation intervention according to the narrative medicine.
UNASSIGNED: a 35-year-old woman with a 23-year history of Hypermobile Ehlers-Danlos Syndrome and Behçet\'s Disease was admitted. A multimodal rehabilitation approach was implemented and described through the patient\'s feelings and expected short-, medium-, and long- terms goals. Moreover, she reported her feeling with periodical interview by her therapist.
UNASSIGNED: The patient was seen for 32 weeks. A decreased pain, as well as improved function was recorded immediately post-intervention.
UNASSIGNED: Narration is not just an interpretation of the illness experience, but the result of reshaping the interpretations of the story that both patient and health professional. This discipline provides enrichment of care, especially when combined with rehabilitation in chronic disease, by paying attention to and using even in the therapeutic phase the stories of patients, family and health care personnel, giving the opportunity to define a tailored effectiveness rehabilitation approach at the light of the different points of view of the subjects.
Narrative Medicine might play a key role in an interpretation of the illness experience to implement a multidisciplinary tailored rehabilitation approach.Narrative Medicine can help understand discomfort and difficulty associated with rehabilitation activities, thereby enhancing patient motivation and participation in interdisciplinary care.The Ehlers–Danlos Syndrome is a heterogeneous group of heritable connective tissue disorders representing a challenge in rehabilitation.Behçet’s Disease is a rare multisystemic chronic disease experiencing an impaired function and a poor quality of life.A patient-oriented multimodal rehabilitation showed to be a useful approach in the case with both diseases, with a reduction of pain and an improvement of functioning.

UNASSIGNED: Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD) are understudied conditions characterized by hallmark hypermobility and chronic pain. Disease manifestations lead to significant disability. Understanding predictors of disability, over and above the univariate construct of pain severity, is necessary to tailor treatment. Thus, the current study examined the impact of the Fear-Avoidance Model [FAM] on disability in hEDS/HSD. Fear of falling was included as a novel fear-avoidance factor impacting disability.
UNASSIGNED: A total of 168 individuals with hEDS/HSD answered a cross-sectional online survey regarding FAM constructs, fear of falling, disability, and clinical-demographic factors. A hierarchical regression analysis was used to assess whether FAM constructs and fear of falling significantly predicted disability, over and above pain severity and age.
UNASSIGNED: Pain catastrophizing, anxiety, and fear of falling contributed significant unique predictive relations, above age and average pain severity. Pain severity and fear of falling were the strongest unique predictors of disability.
UNASSIGNED: This is the first study to assess the relations among FAM constructs, pain severity, and disability in hEDS/HSD, and introduces fear of falling as a novel fear-avoidance factor specific to this population. Future research should apply these findings towards individualized interventions to improve disability in hEDS/HSD.
Disability is significant in hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders, and may be predicted by psychosocial factors of anxiety, pain catastrophizing, and fear of falling.Our findings suggest that improving disability in hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders involves the consideration of physical factors, such as pain severity, along with psychosocial factors, the latter of which are amenable to change through individualized intervention plans.Fear of falling is a novel fear-avoidance construct that should be considered in future research and clinical settings to increase functionality in this frequently falling population.

The most common conditions with symptomatic joint hypermobility are hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). Diagnosing these overlapping connective tissue disorders remains challenging due to the lack of established causes and reliable diagnostic tests. hEDS is diagnosed applying the 2017 diagnostic criteria, and patients with symptomatic joint hypermobility but not fulfilling these criteria are labeled as HSD, which is not officially recognized by all healthcare systems. The 2017 criteria were introduced to improve diagnostic specificity but have faced criticism for being too stringent and failing to adequately capture the multisystemic involvement of hEDS. Herein, we retrospectively evaluated 327 patients from 213 families with a prior diagnosis of hypermobility type EDS or joint hypermobility syndrome based on Villefranche and Brighton criteria, to assess the effectiveness of the 2017 criteria in distinguishing between hEDS and HSD and document the frequencies of extra-articular manifestations. Based on our findings, we propose that the 2017 criteria should be made less stringent to include a greater number of patients who are currently encompassed within the HSD category. This will lead to improved diagnostic accuracy and enhanced patient care by properly capturing the diverse range of symptoms and manifestations present within the hEDS/HSD spectrum.

UNASSIGNED: Physical therapy (PT) plays a central role in treating individuals with Generalized Hypermobility Spectrum Disorder (G-HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS). However, there is limited research describing these individuals\' PT management. This review aims to systematically map the evidence on PT interventions to treat this patient population.
UNASSIGNED: A systematic literature search of PubMed, CINAHL, and Embase from January 2000 to April 2023 was performed. After the screening process, studies were appraised and classified based on the type of PT interventions used. Five reviewers independently assessed the articles.
UNASSIGNED: The search produced 757 articles. Twenty-eight met the inclusion criteria. The studies included 630 participants, mostly female, with a mean age of 26.2 (ranging from 2 to 69). The PT interventions used were therapeutic exercise, patient instruction, motor function training, adaptive equipment, manual therapy, and functional training.
UNASSIGNED: The evidence indicates that therapeutic exercise and motor function training are efficacious methods to treat individuals with G-HSD and hEDS. There is also weak evidence for using adaptive equipment, patient instruction, manual therapy, and functional training. Recent studies emphasize multidisciplinary care and understanding of the psychological impact of G-HSD/hEDS. Additional research is needed to determine the effectiveness and dosage of PT interventions.
The lack of guidelines and consensus on physical therapy (PT) interventions to treat and restore function in people with Generalized Hypermobility Spectrum Disorder (G-HSD) and hypermobile Ehlers-Danlos Syndrome (hEDS) challenges clinicians.This review supports therapeutic exercise and motor function training to improve function, well-being, and quality of life in people with G-HSD and hEDS.There is weak evidence for using adaptive equipment, patient instruction, manual therapy, and functional training.We have gathered existing evidence, appraised the quality, and drawn conclusions on this population’s most supported PT interventions.

Using hydrogen breath testing (HBT) to diagnose small intestinal bacterial overgrowth (SIBO) remains controversial in patients with functional gastrointestinal (GI) disorders, and unknown in those with hypermobility Ehlers-Danlos syndrome (hEDS). We assessed prevalence of positive HBTs in these groups, evaluated the predictive value of GI symptoms and the potential role of proton pump inhibitors (PPIs) on test results.
Sequential patients referred for HBT to a tertiary unit were classified into the following groups: GI maldigestion/malabsorption, GI sensorimotor disorders, hEDS, and functional GI disorders. All underwent standardized HBT, and the yield was assessed against symptoms and PPI use.
A total of 1062 HBTs were performed over 3 years (70% female, mean age 48 ± 16 years). Overall, 7.5% (80/1062) patients had a positive HBT. Prevalence of positive HBT was highest in patients with GI maldigestion/malabsorption (17.9%; DOR 16.16, p < 0.001), GI sensorimotor disorders (15.9%; DOR 8.84, p < 0.001), compared to functional GI disorders (1.6%; DOR 1.0) (p < 0.0001). None of the hEDS patients tested positive for HBT. A positive HBT was independently associated with increased age (DOR 1.03; p < 0.001) and symptoms of diarrhea (DOR 3.95; p < 0.0001). Patients on PPIs tended towards a positive HBT than patients off PPIs (16.1% vs 6.9%; DOR 2.47; p < 0.0001).
Less than 2% of patients with functional GI disorders, and none of the patients with hEDS had a positive HBT. Pre-test probability was higher in patients with: GI structural or neurological disorders; use of long-term PPIs and symptoms of diarrhea. These criteria may be helpful in making appropriate therapeutic decisions and avoiding unnecessary hydrogen breath testing.