Utility of bone scintigraphy in the study of hereditary disorders of the connective tissues (HDCT)

Introduction: Collagen fiber genetic alterations predispose to pain and instability of joints, with a tendency to osteoarthritis, and may also cause fragility of other tissues. Objective: To demonstrate that Bone Scintigraphy is useful in the diagnosis of Heritable Disorders of Connective Tissues (HDCT). Material and methods: We studied the scintigraphic changes of wrists, carpal bones and hands of 22 adult patients with HDCT who were diagnosed clinically using both the Brighton Criteria(1), as well as own criteria**. We compared them to 22 controls with similar age and sex, who had a bone scintigram done for other purposes. Results: Statistically significant scintigraphic positivity was found in the areas studied in the patients as compared to controls (p ≤ 0.05), with a sensitivity of 95% and specificity of 73%. There was no correlation of the degree of positivity with age, sex or type of HDCT studied. A scintigraphic positivity was seen both in patients with lax joints, as well as in those with a lesser degree of joint mobility. Conclusions: We concluded that bone scintigraphic studies are useful in the diagnosis of adult HDCT patients (including Benign Joint Hyper mobility Syndrome (BJHS) and other forms of Ehlers-Danlos). We suggest that not only hypermobility of joints, but also cartilage fragility are important pathogenic factors in the genesis of these alterations. We formulate a new hypothesis of the importance of low folic acid intake during pregnancy, as a cause for mutations that would give rise to HDCT (Au)