Table 5.

Treatment of Manifestations in Individuals with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies

Manifestation/ConcernTreatmentConsiderations/Other
Impaired clotting Use of clotting promotors (e.g., desmopressin, epsilon aminocaproic acid, tranexamic acid) for surgeries, injuries, or dental treatmentsPlatelet transfusions may be used for severe bleeding or procedures w/high bleeding risk but are not first-line therapy due to risk of alloimmunization.
Myelodysplastic syndromes & acute leukemias Allogenic stem cell transplantation may be considered in transplant-eligible persons w/early signs of malignancy.
  • FPDMM is not thought to be curable w/chemotherapy alone; HSCT is almost always required.
  • Test for familial RUNX1 pathogenic variant prior to using a family member as a HSCT donor. 1
Eczema Emollients & topical steroids as needed
Family support/
resources 		Consider:
  • Providing a medical letter for school explaining easy bruising at baseline, as referrals for social services for concern of child abuse can occur;
  • Use of a medical alert bracelet for thrombocytopenia, platelet dysfunction, or hematologic malignancy as indicated.

FPDMM = familial platelet disorder with associated myeloid malignancies; HSCT = hematopoietic stem cell transplant

1.

Recurrence of leukemia was reported after a donor sib was found to have the familial RUNX1 pathogenic variant [Owen et al 2008].

From: RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies

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