Adnkronos (Adnkronos) – “There are more than 500 rare skeletal diseases. They should be part of medical teaching in the final years” of the degree program, “because all doctors should be aware, regardless of the specialty they will later pursue in their profession, of what a rare disease is and how many complications can arise in systems that do not directly involve the bone.”
Thus Maria Luisa Brandi, president of the Firmo Foundation, speaking today in Rome at the conference organized for the International Day of Rare Bone Diseases, explains that a good way "to talk about rare diseases, sometimes very rare, is to talk about them with many people", for this reason "we have created a coalition of rare bone diseases".
Today, the topic of rare skeletal diseases is better known than in the past "because we have new therapeutic solutions," says Brandi. "Every time a drug with the potential to cure a rare disease becomes available, everyone talks about it more, because we have answers.
In reality, rare diseases are treated even in the absence of drugs for early diagnosis: if the diagnosis is late, complications accumulate and we won't be able to eliminate them; they will leave permanent scars. Today, we're talking about rare diseases precisely so that more doctors know about them, more patients know that there are doctors who can treat them with the drugs that may be available, but above all, to diagnose them promptly.
Particularly important, for Brandi, is the training "of the general practitioner so that he can intercept those three, four, maximum five signs that make one suspect that something is wrong.
For example,” he clarifies, “bone fragility is definitely a warning sign; a fragility fracture at age 30 should raise suspicions that something is wrong. In this case, if other potential causes are ruled out, I have to consider the genetic cause.”
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