Currently available measures for treatment of inherited thrombocytopenias
| Treatment . | Indications . |
|---|---|
| Tools for stopping bleeding and covering hemostatic challenges | |
| Local measures (eg, nasal packing or cauterization, suturing) | Whenever possible, should be considered as the first-line treatment of bleeding unless it is life or organ threatening or occurs at functionally critical sites. |
| Platelet transfusions | Currently considered as the standard measure to stop bleeding or cover hemostatic challenges. Their use should be limited to clinical situations that cannot be managed otherwise, mainly because of the risk of HLA alloimmunization that can lead to refractoriness to subsequent platelet infusions. Use HLA-matched concentrates whenever possible. Should be considered as the first-line treatment of life- or organ-threatening bleeding or bleeding at critical sites. |
| Antifibrinolytic agents | Widely used in clinical practice to treat bleeding or cover hemostatic challenges (especially low-risk procedures). |
| Anecdotal evidence about clinical efficacy in ITs; use based on experts’ opinion. | |
| Desmopressin | Widely used in clinical practice to treat bleeding or cover hemostatic challenges (especially low-risk procedures). |
| Anecdotal evidence about clinical efficacy in ITs; use based on improvement of bleeding time in some forms. | |
| Recombinant factor VIIa | Limited clinical experience in ITs; it has been used to treat bleeding or cover surgery in few patients with bBSS (case reports). |
| Short-term eltrombopag | Effective in increasing platelet count in most patients with MYH9-RD (phase 2 trial). |
| It has been used to cover elective surgery in few patients with MYH9-RD or ANKRD26-RT (case reports). | |
| Tools for achieving long-term increase of platelet count | |
| Long-term eltrombopag | Tested in 8 patients with WAS/XLT (phase 2 trial). Five of them achieved a clinical response. No major side effects were recorded. |
| Splenectomy | Increases platelet count in patients with WAS/XLT but also increases the incidence of infections, without affecting overall survival. Splenectomy has no role in all the other forms of IT. |
| In XLT, the pros and cons of splenectomy should be assessed in each individual patient. | |
| In WAS, splenectomy should be avoided in candidates for HSCT because it increases the risk of major infections after HSCT. | |
| HSCT | Treatment of choice for WAS and CAMT. |
| Should be considered in selected patients affected with other ITs presenting with severe clinical manifestations and/or poor prognosis. | |
| It has been used in a few patients with XLT, RUSAT, bBSS, and thrombocytopenia-absent radius syndrome, with good outcomes. | |
| Gene therapy | Experimental option for patients affected by severe WAS who do not have a suitable donor for HSCT. |
| Treatment . | Indications . |
|---|---|
| Tools for stopping bleeding and covering hemostatic challenges | |
| Local measures (eg, nasal packing or cauterization, suturing) | Whenever possible, should be considered as the first-line treatment of bleeding unless it is life or organ threatening or occurs at functionally critical sites. |
| Platelet transfusions | Currently considered as the standard measure to stop bleeding or cover hemostatic challenges. Their use should be limited to clinical situations that cannot be managed otherwise, mainly because of the risk of HLA alloimmunization that can lead to refractoriness to subsequent platelet infusions. Use HLA-matched concentrates whenever possible. Should be considered as the first-line treatment of life- or organ-threatening bleeding or bleeding at critical sites. |
| Antifibrinolytic agents | Widely used in clinical practice to treat bleeding or cover hemostatic challenges (especially low-risk procedures). |
| Anecdotal evidence about clinical efficacy in ITs; use based on experts’ opinion. | |
| Desmopressin | Widely used in clinical practice to treat bleeding or cover hemostatic challenges (especially low-risk procedures). |
| Anecdotal evidence about clinical efficacy in ITs; use based on improvement of bleeding time in some forms. | |
| Recombinant factor VIIa | Limited clinical experience in ITs; it has been used to treat bleeding or cover surgery in few patients with bBSS (case reports). |
| Short-term eltrombopag | Effective in increasing platelet count in most patients with MYH9-RD (phase 2 trial). |
| It has been used to cover elective surgery in few patients with MYH9-RD or ANKRD26-RT (case reports). | |
| Tools for achieving long-term increase of platelet count | |
| Long-term eltrombopag | Tested in 8 patients with WAS/XLT (phase 2 trial). Five of them achieved a clinical response. No major side effects were recorded. |
| Splenectomy | Increases platelet count in patients with WAS/XLT but also increases the incidence of infections, without affecting overall survival. Splenectomy has no role in all the other forms of IT. |
| In XLT, the pros and cons of splenectomy should be assessed in each individual patient. | |
| In WAS, splenectomy should be avoided in candidates for HSCT because it increases the risk of major infections after HSCT. | |
| HSCT | Treatment of choice for WAS and CAMT. |
| Should be considered in selected patients affected with other ITs presenting with severe clinical manifestations and/or poor prognosis. | |
| It has been used in a few patients with XLT, RUSAT, bBSS, and thrombocytopenia-absent radius syndrome, with good outcomes. | |
| Gene therapy | Experimental option for patients affected by severe WAS who do not have a suitable donor for HSCT. |
Abbreviations are explained in Table 1.