Dual-action ambroxol in treatment of chronic pain in Gaucher Disease.

A significant number of patients with Gaucher disease (GD) suffer from chronic or acute pain that reduces their quality of life. A mutation in lysosomal enzyme β-glucosidase (GCase) leads to an accumulation of glucocerebroside in the macrophage-lineage cells, causing the development of clinical symptoms. Novel studies have revealed that ambroxol (trans-4-(2-amino-3,5-dibromobenzylamino)-cyclohexanol), the well-known mucolytic drug, acts as a chaperone for the mutant, misfolded enzyme. In addition, as has recently been shown, ambroxol is a Na_v 1.8 channel blocker in Aβ, Aδ, and unmyelinated C-fibers, and therefore reduces the transmission of sensory stimuli from the primary afferent neurons to the dorsal spinal cord. In this way, it can act analgetically. Thus, in addition to broncholytic properties, ambroxol combines two other important functions: it enhances enzyme replacement therapy (ERT) and pain management in patients with GD. We present a 38-year-old female patient with type 3 GD who had reported permanent bone pain in the lumbar-sacral part of the spine for over a year without any pathology evidenced in the undertaken, recommended diagnostic tests. The pain was partly controlled with standard analgesics, i.e. paracetamol and tramadol. Ambroxol was introduced at a dose of 150mg/d without a noticeable effect. However, when the dose was increased up to 450mg/d, the intensity of pain diminished and subsided within the following months. Two out of three attempts to reduce the dose of ambroxol resulted in a pain relapse within a week, which subsided after resetting the previous, higher dose. This observation of the effects of ambroxol in a GD patient is worth considering for other GD patients with chronic pain.