Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients

Abstract

Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is a relatively frequent, although commonly misdiagnosed variant of Ehlers-Danlos syndrome, mainly characterized by marked joint instability and mild cutaneous involvement. Chronic pain, asthenia, and gastrointestinal and pelvic dysfunction are characteristic additional manifestations. We report on 21 HT-EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoskeletal, cardiovascular, neurologic, gastrointestinal, urogynecological, and ear-nose-throat abnormalities are investigated systematically and tabulated. Six distinct clinical presentations of HT-EDS are outlined, whose tabulation is a mnemonic for the practicing clinical geneticist in an attempt to diagnose this condition accurately. With detailed clinical records and phenotype comparison among patients of different ages, the natural history of the disorder is defined. Three phases (namely, hypermobility, pain, and stiffness) are delineated based on distinguishing manifestations. A constellation of additional, apparently uncommon abnormalities is also identified, including dolichocolon, dysphonia, and Arnold-Chiari type I malformation. Their further investigation may contribute to an understanding of the pathogenesis of the protean manifestations of HT-EDS, and a more effective approach to the evaluation and management of affected individuals.

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study

“…Clinical manifestations include painful and chronic joint instability and dislocations leading to degenerative joint disease at a young age. 18 The genetic basis of EDS hypermobility type is unknown in most cases; therefore, the diagnosis of this type is based entirely on clinical evaluation that includes musculoskeletal and skin findings and sometimes positive family history, but the absence of fragility of other soft tissues. 4 The classic type of EDS is characterized by joint hypermobility, similar to the one observed in the hypermobility type, but a much more extensive skin involvement (skin hyperextensibility, abnormal wound healing and scar formation), as well as fragility of other connective tissues in some cases (large arteries, cervical insufficiency during pregnancy, recurrent hernias, rectal prolapse etc).…”

Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

“…[4][5][6][7] In fact, the existence of EDS type VIII, as a specific EDS form associated with periodontal disease and having a distinct underlying genetic basis, is still debated in the literature. This is based in part on the reported association of gingivitis (and sometimes subsequent periodontitis) with other subtypes of EDS (eg, the classic, hypermobile and vascular forms), 3,8 arguing that gingival involvement may be considered a nonspecific consequence of various heritable connective tissue disorders. However, based on previously reported cohorts of patients with EDS type VIII, it seems that this is a distinct syndrome with a few major differences from other EDS types.…”

Gynecologic and obstetric impact of the ehlers-danlos syndrome : clues from scrutinizing dermal ultrastructural alterations

“…Nevertheless, some complications are reported including abnormal fetal presentations, increased rate of suture dehiscence and delayed wound healing, uterus atonia, hemorrhage, pelvic prolapse, deep venous thrombosis and coccyx dislocation [17,19,27,32,33]. Pelvic prolapse may occur in nullipara [34].…”