The Prevalence of Joint Hypermobility among High School and University Students

Background Joint hypermobility (JH) prevails worldwide, especially in children and females, although its consequences have been neglected and understated by health care practitioners. JH can lead to musculoskeletal injuries, which can have serious negative effects on a person’s health. This topic has not been sufficiently studied in Pakistan so this study will help in filling the gap. Objective This study aims to determine the prevalence of asymptomatic joint hypermobility, among high school and university students, at 2 institutions in Pakistan. Methodology A total of 1,749 students, with an average age of 16.96 (range 14–26), who studied at Dar e Arqam School or Riphah International University in Faisalabad were examined. The Beighton criteria system was used to determine the prevalence of JH on the basis of minor criteria for hypermobility (1/9–3/9 joints, indicating localized and peripheral hypermobility) and major criteria (4/9 joints or above 4 joints, indicating generalized hypermobility). Results The results showed that the prevalence of JH in female students studying in high school was 61.9%, and in female university students, the prevalence was 58.4%. Minor hypermobility was most common among university students in their 5th to 8th semester (60.3%), while major hypermobility occurred most frequently in high school students of 9th grade (80.1%). In addition, the results of the study established that joint hypermobility was most common in the elbow joint on the right side: 673 (94.7%) male and 1,002 (96.5%) female students. Conclusion The prevalence of common hypermobility, especially generalized hypermobility, was high among female high school students compared to university students, and hypermobility in the right trunk and elbow joint was more common compared to other joints.

The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers–Danlos Syndrome with 21-Hydroxylase Deficiency

Purpose Defects in both CYP21A2 and TNXB genes can cause congenital adrenal hyperplasia combined with hypermobility-type Ehlers–Danlos syndrome (EDS), which has recently been named CAH-X syndrome. The purpose of this study is to assess the prevalence of the chimeric TNXA/TNXB gene and clinical symptoms in a Chinese cohort with 21-hydroxylase deficiency (21-OHD). Methods A total of 424 patients with 21-OHD who were genetically diagnosed were recruited for this study. Multiplex ligation-dependent probe amplification and sequencing were used to identify the CAH-X genotype. Clinical features of joints, skin, and other systems were evaluated in 125 patients. Results Ninety-four of the 424 patients had a deletion on at least 1 allele of CYP21A2 and 59 of them harbored the heterozygotic TNXA/TNXB chimera. Frequencies of CAH-X CH-1, CH-2, and CH-3 were 8.2%, 3.1%, and 2.6%, respectively. The incidences of clinical features of EDS were 71.0% and 26.6% in patients with the chimeric TNXA/TNXB genes or without (P < .001). There were statistically significant differences in manifestations among articular (P < .001 in generalized hypermobility) and dermatologic features (P < .001 in hyperextensible skin, P = .015 in velvety skin and P = .033 in poor wound healing). The prevalence of generalized hypermobility was more common in CAH-X CH-2 or CH-3 than CH-1 patients (60% vs 20%, P = .028). Conclusions In summary, about 14% of patients with 21-OHD may have chimeric TNXA/TNXB gene mutations in our study and most of them showed EDS-related clinical symptoms. The correlation between CAH-X genotypes and clinical features in connective tissue, like joint or skin, needs to be further investigated.

Case 70: Small Fiber Neuropathy and Generalized Hypermobility Spectrum Disorder

Autonomic testing showed mixed small fiber neuropathy, which can be responsible for both sensory complaints and dysautonomia. Dysautonomia was generalized but mild. The patient has generalized hypermobility spectrum disorder (GHSD).

Case 69: Small Fiber Neuropathy, Hypocapnic Cerebral Hypoperfusion, and Generalized Hypermobility Spectrum Disorder

Autonomic testing showed mixed small fiber neuropathy, which can be responsible for both sensory complaints and dysautonomia. Dysautonomia was generalized, but mild and was associated with mild orthostatic intolerance. The patient has generalized hypermobility spectrum disorder (GHSD).