Management Guidelines
No clinical practice guidelines for RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) have been published.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with RUNX1-FPDMM, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 4.
Recommended Evaluations Following Initial Diagnosis in Individuals with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
System/Concern | Evaluation | Comment
Hematologic
| Clinical eval by hematologist incl CBC, differential, reticulocyte count, peripheral smear | Baseline bone marrow biopsy aspirate may be considered.
Dermatologic
| Clinical eval for eczema or other skin concerns as needed |
Genetic
counseling | By genetics professionals1 | To obtain a pedigree inform affected persons their families re nature, MOI, implications of RUNX1-FPDMM to facilitate medical personal decision making
CBC = complete blood count; MOI = mode of inheritance; RUNX1-FPDMM = RUNX1 familial platelet disorder with associated myeloid malignancies
1. Clinical geneticist, certified genetic counselor, certified genetic nurse, genetics advanced practice provider (nurse practitioner or physician assistant), or hematologist with expertise in these disorders
Treatment of Manifestations
Table 5.
Treatment of Manifestations in Individuals with RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
Source: GeneReviews — "RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies"
