Il dolore nella Malattia di Fabry

Abstract

The pain of the extremities is a very frequent and early symptom,in males, and also in women, with a classic picture of Fabry’s disease, although it is often underestimated or misdiagnosed. It is characterized by attacks of burning pain, of variable intensity and frequency, which affect the extremities of the limbs. Young patients report recurrent episodes of exacerbation of pain attacks. Fever, heat and / or cold intolerance, reduced or absent sweating and gastrointestinal disorders can be associated with the pain of the extremities. These characteristics are indicative of the neuropathic nature of the pain, due to the selective involvement of small-caliber nerve fibers in the peripheral nerves and their ganglia (selective neuropathy of small fibers). The involved small nerve fibers mediate the pain, cold and heat perception, as well as the autonomic nervous system functions. In conclusion, because the selective neuropathy of small fibers is caused by some common disease, such as diabetes mellitus, but also by Fabry disease, it is appropriate that this last is also considered in differential diagnosis of pain of extremities in Youngs. This is because, in the case of M. of Fabry, the correct interpretation of the nature of painful symptomatology can contribute to a timely and reliable diagnosis of the disease itself, as well as to the choice of the most appropriate treatment.