Aquagenic pruritus and the JAK2 V617F mutation

Differences between aquagenic and non‐aquagenic pruritus in myeloproliferative neoplasms: An observational study of 500 patients

“…Aquagenic pruritus is such a prominent symptom in PV patients that dermatology experts recommend testing patients with AP for JAK2 mutations to identify MPN cases (mostly in the presence of abnormal blood counts, but not exclusively), as AP can precede MPN diagnosis by many years. [14][15][16] However, AP is not seen exclusively in MPN and may be present in many other situations. 14,17 In the present study, we analyzed the frequency, intensity and clinical relevance of pruritus among MPN patients by using MPN-SAF TSS self-report questionnaires.…”

“…Indeed, despite a partial or complete haematological response to haematological treatment, more than 50% of patients reported persistent AP, and the high number of case reports describing fluctuating success of symptomatic treatments suggests that cytoreductive treatments are not the solution. 13,16,18 The absence of a real understanding of the pathophysiology of AP could explain this finding. A correlation between the JAK2V617F mutation and the presence of AP has been evoked, but the presence of AP in MPN patients negative for JAK2V617F indicates that no direct link exists.…”

“…A correlation between the JAK2V617F mutation and the presence of AP has been evoked, but the presence of AP in MPN patients negative for JAK2V617F indicates that no direct link exists. 13,16,[21][22][23] The non-AP group may have experienced higher levels of pruritus resolution as a result of better therapeutic management due to an understanding of the cause of the pruritus (i.e. liver or kidney disease or dermatosis) and/or use of the MPN cytoreductive treatment.…”

“…The fact that the number of patients describing relief of their pruritus is higher in the non‐AP group than in AP group is not so surprising. Indeed, despite a partial or complete haematological response to haematological treatment, more than 50% of patients reported persistent AP, and the high number of case reports describing fluctuating success of symptomatic treatments suggests that cytoreductive treatments are not the solution 13,16,18 . The absence of a real understanding of the pathophysiology of AP could explain this finding.…”

“…The absence of a real understanding of the pathophysiology of AP could explain this finding. A correlation between the JAK2 V617F mutation and the presence of AP has been evoked, but the presence of AP in MPN patients negative for JAK2 V617F indicates that no direct link exists 13,16,21–23 . The non‐AP group may have experienced higher levels of pruritus resolution as a result of better therapeutic management due to an understanding of the cause of the pruritus (i.e.…”