The Ehlers–Danlos syndrome, a disorder with many faces
The Ehlers–Danlos syndrome (EDS) comprises a spectrum of monogenic conditions with multi-systemic and variable clinical manifestations affecting primarily the skin, ligaments and joints, blood vessels and internal organs.
The effect Classic EDS on the bones:
The molecular basis of classic EDS is a deficiency of type V collagen, a quantitatively minor fibrillar collagen that is widely distributed in tissues such as skin, bone, tendon, cornea, placenta and foetal membranes.
NEW TREATMENT FOR BRITTLE BONE DISEASE
Researchers at Baylor College of Medicine have identified a new approach to treating osteogenesis imperfecta (OI), also known as brittle bone disease. Patients who have this congenital disorder live with fragile bones that break easily. The study, published in the current issue of the journal Nature Medicine, showed that excessive activity of an important signaling protein in the matrix of the bone called transforming growth factor beta is associated with the cause of the disease.
“There are many genetic causes of brittle bone disease in children and adults,” said Dr. Brendan Lee, professor of molecular and human genetics at Baylor and a Howard Hughes Medical Institute investigator, in the May 4, 2014 news release. “We have discovered many of them but clinicians still cannot easily distinguish the different forms.”
Case Study: Therapy for Hypophosphatemic Ricket
Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome
Hypophosphatemic rickets (HR) is a group of diseases sharing similar biochemical phenotypes including excessive renal phosphate wasting, low serum phosphate, and inappropriately low or normal serum 1,25-dihydroxyvitamin D (1,25-OHD) for the given level of hypophosphatemia.
Note from CEDSA: There are many forms of Rickets and several newborns with EDS family history have been found with different forms of Rickets. We as an organization in conjuction with leading experts in the field feel Vitamin D screening is a must.
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Assessment of bone in Ehlers Danlos
Assessment of bone in Ehlers Danlos Syndrome by ultrasound and densitometry
A L Dolan, N K Arden, R Grahame, T D Spector
There are phenotypic similarities with osteogenesis imperfecta, but in EDS a tendency to fracture or altered bone mass has not previously been considered to be a cardinal feature. In summary, this study has shown that EDS patients have a previously unrecognised tendency to fracture characterised by a low bone mass and abnormal bone structure. This is likely to be multifactorial, with an inherited structural element, but accentuated by reduced mobility and the possibility of a proprioceptive defect. Patients with EDS should be investigated for osteoporosis and physical and pharmaceutical strategies to reduce fractures considered. This study also suggests that ultrasound can be useful in detecting structural differences in bone, independent of those detected by DXA.
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