Ehlers-Danlos Syndrome (EDS), Marfan Syndrome, Mineral Density
Conditions
Brief summary
The general objective of this research is to evaluate the characteristics of bone mineralisation in patients with Marfan syndrome or Ehlers-Danlos syndrome on a large case series. In particular we intend to obtain data regarding the characteristics of bone mineralisation, as well as their variation over time and the relationships existing with other clinical-anamnestic parameters, in patients with Marfan syndrome or Ehlers-Danlos syndrome by retrospectively analysing (data already collected for normal clinical practice and already available at the hospital) the case history of the Cardiovascular genetic center at IRCCS Policlinico San Donato and the related Computerized Bone Mineralometry (MOC) examinations performed at the Radiology Service of the same hospital between 1 September 2019 and 31 December 2022.
Interventions
None listed
Sponsors
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
IRCCS Policlinico S. Donato
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Subjects with Marfan syndrome and Ehlers-Danlos syndrome according to the revised reference criteria belonging to the Cardiovascular genetic center at IRCCS Policlinico San Donato and the Reference Centre for Ehlers-Danlos Syndromes Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico; * Adult and paediatric subjects who have performed at least one Bone Mineral Densitometry within the observation period of the study.
Exclusion criteria
* Presence of prostheses in the spinal column; * Presence of prostheses in the coxofemoral joint; * Oncological bone diseases reported in history.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Objective 1 | Between 1 September 2019 and 31 January 2025. | To retrospectively evaluate the percentage of subjects with fractures in subjects with Marfan syndrome and Ehlers Danlos syndrome who performed at least one Bone Mineral Densitometry in the period between 1 September 2019 and 31 January 2025. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Objective 2 | Between 1 September 2019 and 31 January 2025. | Identifying patients with osteoporosis with T-score values below -2.5 SD and z-score values ≤ -2 SD in the paediatric population. |
| Objective 3 | Between 1 September 2019 and 31 January 2025. | Identify patients with osteopenia with T scores between -1 and -2.5 SD |
| Objective 4 | Between 1 September 2019 and 31 January 2025. | Identify adult patients with TBS values * TBS values ≤ 1200 (degraded micro-architecture); * TBS values between 1349 - 1201 (partially degraded micro-architecture). |
Contacts
Primary ContactAlessandro Pini Alessandro Giorgio Pini,MD, Medical degree
Outcome results
None listed