The pathophysiology of bone disease and thalassemia is quite complex and there are many things that can affect it. So there’s the conventional risk factors that can affect anybody’s bones like smoking, excessive alcohol intake, the use of steroids. But then there’s disease-specific factors which relate to, for example, the presence of endocrinopathies...
The pathophysiology of bone disease and thalassemia is quite complex and there are many things that can affect it. So there’s the conventional risk factors that can affect anybody’s bones like smoking, excessive alcohol intake, the use of steroids. But then there’s disease-specific factors which relate to, for example, the presence of endocrinopathies. That’s a very big factor. So maybe up to 50% of patients with transfusion-dependent thalassemia might have hypogonadism. So low testosterone, low estrogen – that’s a major risk factor for bones – diabetes mellitus, growth hormone deficiency, thyroid hormone deficiency. And then there’s also things like increased urinary calcium loss and kidney stones – those are also risk factors. Iron itself can be quite toxic to bone, and some of the chelation treatments can also have some effects on the bone as well. So there’s quite a lot of things interacting together.
If we think about the endocrinopathies, for example, somebody with diabetes, their control will make quite a big impact on their bones. So we know that insulin deficiency will cause a problem with bone formation, and so how good their glucose control is will make a difference. The gonadal status – so in a younger patient, a premenopausal woman, who is not on HRT, that will have a massive adverse effect on the bones. And similarly for a man with hypogonadism, massive impact.
And then the iron status will also make a big impact. So somebody who is poorly chelated, that will also impact bone.
So, I guess it’s a kind of holistic approach, optimizing all the haematological parameters, but also the lifestyle factors and the endocrine status makes a really big difference.
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