RUNX1 Familial Platelet Disorder (RUNX1-FPD) also known as Familial platelet disorder with associated myeloid malignancies, FPDMM, is a rare inherited disease caused by one of over 100 known variants (i.e., mutations) in an individual’s RUNX1 gene. Low platelets and dysfunctional platelets, which cause heavier than average bruising and bleeding, are hallmarks of the disorder.[1] Individuals with RUNX1-FPD have a lifetime risk of being diagnosed with a hematologic malignancy of 35-45%.[2]
RUNX1-FPD patients often face a range of additional health issues including eczema,[citation needed] arthritis,[6] psoriasis,[7] asthma, allergies, autoimmune disorders and gastrointestinal problems.[8]
References
^Song, W. J.; Sullivan, M. G.; Legare, R. D.; Hutchings, S.; Tan, X.; Kufrin, D.; Ratajczak, J.; Resende, I. C.; Haworth, C.; Hock, R.; Loh, M.; Felix, C.; Roy, D. C.; Busque, L.; Kurnit, D. (1999). "Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia". Nature Genetics. 23 (2): 166–175. doi:10.1038/13793. ISSN1061-4036. PMID10508512.
^Tokuhiro, Shinya; Yamada, Ryo; Chang, Xiaotian; Suzuki, Akari; Kochi, Yuta; Sawada, Tetsuji; Suzuki, Masakatsu; Nagasaki, Miyuki; Ohtsuki, Masahiko; Ono, Mitsuru; Furukawa, Hidehiko; Nagashima, Masakazu; Yoshino, Shinichi; Mabuchi, Akihiko; Sekine, Akihiro (2003). "An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis". Nature Genetics. 35 (4): 341–348. doi:10.1038/ng1267. ISSN1061-4036. PMID14608356.
^Helms, Cynthia; Cao, Li; Krueger, James G.; Wijsman, Ellen M.; Chamian, Francesca; Gordon, Derek; Heffernan, Michael; Daw, Jil A. Wright; Robarge, Jason; Ott, Jurg; Kwok, Pui-Yan; Menter, Alan; Bowcock, Anne M. (2003). "A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis". Nature Genetics. 35 (4): 349–356. doi:10.1038/ng1268. ISSN1061-4036. PMID14608357.