Clinical features of children, adolescents, and adults with coexisting hypermobility syndromes and von Willebrand disease

Abstract

We present five patients with coexistent von Willebrand disease (VWD) and Ehlers-Danlos syndrome and 21 with VWD and joint hypermobility. Females outnumbered males ten to three, Beighton scores were documented in 58% (15 of 26 patients), and several patients experienced moderately severe bleeding. We believe coexistent hypermobility disorder with VWD potentially affects bleeding severity and want to raise awareness among hematologists. Evaluation by geneticists is recommended because of the varying complexities observed across the disease spectrum, and the availability of new genetic tests should lead to more accurate diagnoses for the various hypermobility disorders.

An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

“…When co‐occurring in someone with EDS, it can cause more accentuated bleeding phenotype and be more likely to result in a referral to a haematologist. Recently, Hall et al described the clinical presentation of five patients with co‐existing VWD and EDS and 21 patients with VWD and joint hypermobility in a retrospective chart review . They believed that joint hypermobility contributed to aggravated bleeding symptoms in an otherwise mild bleeding disorder .…”

“…Recently, Hall et al described the clinical presentation of five patients with co‐existing VWD and EDS and 21 patients with VWD and joint hypermobility in a retrospective chart review . They believed that joint hypermobility contributed to aggravated bleeding symptoms in an otherwise mild bleeding disorder . Acquired von Willebrand syndrome (AVWS) has also been reported in people with EDS with clinical manifestations likely due to the additive effect .…”

“…41 They believed that joint hypermobility contributed to aggravated bleeding symptoms in an otherwise mild bleeding disorder. 41 Acquired von…”

Pregnancy and childbirth in women with bleeding disorders: A retrospective cohort study

“…There is known overlap between connective tissue disease (e.g., Ehler-Danlos) and bleeding symptoms. 23,24 However, as data were not pulled on connective tissue disease diagnosis, it is not clear whether these women also had other connective tissue diseases contributing to both uterine rupture and bleeding. More research is needed on this topic.…”

“…There was an extremely low incidence (<10) and it was associated with participants who had ICD code 286.9 ('other and unspecified coagulation defects') as their most specific BD code. There is known overlap between connective tissue disease (e.g., Ehler‐Danlos) and bleeding symptoms 23,24 . However, as data were not pulled on connective tissue disease diagnosis, it is not clear whether these women also had other connective tissue diseases contributing to both uterine rupture and bleeding.…”