RASopathies and hemostatic abnormalities: key role of platelet dysfunction Article Swipe
Francesca Di Candia
,
Valeria Marchetti
,
Ferdinando Cirillo
,
Alessandro Di Minno
,
Carmen L. Rosano
,
Stefano Pagano
,
Maria Siano
,
Mariateresa Falco
,
Antonia Assunto
,
Giovanni Boccia
,
Gerardo Magliacane
,
Valentina Pinna
,
Alessandro De Luca
,
Marco Tartaglia
,
Giovanni Di Minno
,
Pietro Strisciuglio
,
Daniela Melis
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1186/s13023-021-02122-7
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1186/s13023-021-02122-7
Background Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We aimed to characterize the frequency and types of bleeding disorders in patients with RASopathies and evaluate any significant association with laboratory findings. Patients and methods Forty-nine individuals ( PTPN11 , n = 27; SOS1 , n = 7; RIT1 , n = 3; SPRED1 , n = 1; LZTR1 , N = 3; RAF1 , n = 2; BRAF , n = 4; MEK1 , n = 1; MEK2 , n = 1), and 49 age- and sex-matched controls were enrolled. The “Paediatric Bleeding Questionnaire Scoring Key” was administered to patients and families. Laboratory screening tests including clotting factors dosing, platelet count, Prothrombin Time and Partial Thromboplastin Time, were employed both in patients and controls to characterize the bleeding diathesis. A subgroup of 29/49 patients and 29/49 controls was also tested for platelet function. Results Regardless of the gene involved, pathological paediatric bleeding scores were recorded in 14/49 (28.5%) patients. Indeed, 7 were mutated in PTPN11 , 3 in SOS1 , 2 in RIT1 , 1 in BRAF , and 1 in MEK1 . Compared to patients with normal bleeding scores, those with pathologic bleeding score showed higher prevalence of splenomegaly ( p = 0.006), prolonged aPTT ( p = 0.04), lower levels of coagulation factor V (FV, p = 0.001), FVII ( p = 0.003), FX ( p = 0.0008) and FXIII ( p = 0.002), higher vWAg ( p = 0.04), and lower platelet sensitivity to Ristocetin ( p = 0.001), arachidonic acid (AA) ( p = 0.009) and collagen ( p = 0.01). The presence of hematomas inversely correlated with factor V ( p = 0.002), factor VII ( p = 0.003), factor X ( p = 0.002) and factor XIII ( p = 0.004) levels, and directly correlated with platelet response to collagen ( p = 0.02) and AA ( p = 0.01). The presence of splenomegaly directly correlated with the presence of hematoma ( p = 0.006), platelet response to Ristocetin ( p = 0.04) and AA ( p = 0.04), and inversely correlated with factor V levels ( p = 0.03). Conclusions Patients with RASopathies and a bleeding tendency exhibit multiple laboratory abnormalities, including platelet-related disorders. Splenomegaly is frequently detected and might be a suggestive sign for qualitative platelet dysfunction. A comprehensive clinical assessment should be carried out at diagnosis, during the follow-up and before any surgical procedures. Since there is currently no consensus on management of bleeding complications, it is important that physicians closely monitor these patients.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/s13023-021-02122-7
- https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-021-02122-7
- OA Status
- gold
- Cited By
- 9
- References
- 30
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3160895404
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3160895404Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1186/s13023-021-02122-7Digital Object Identifier
- Title
-
RASopathies and hemostatic abnormalities: key role of platelet dysfunctionWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-12-01Full publication date if available
- Authors
-
Francesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, Alessandro Di Minno, Carmen L. Rosano, Stefano Pagano, Maria Siano, Mariateresa Falco, Antonia Assunto, Giovanni Boccia, Gerardo Magliacane, Valentina Pinna, Alessandro De Luca, Marco Tartaglia, Giovanni Di Minno, Pietro Strisciuglio, Daniela MelisList of authors in order
- Landing page
-
https://doi.org/10.1186/s13023-021-02122-7Publisher landing page
- PDF URL
-
https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-021-02122-7Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-021-02122-7Direct OA link when available
- Concepts
-
Medicine, Bleeding diathesis, Internal medicine, Gastroenterology, Partial thromboplastin time, Noonan syndrome, Platelet, PTPN11, Platelet disorder, Ristocetin, Prothrombin time, Bleeding time, Coagulopathy, KRAS, Von Willebrand factor, Cancer, Platelet aggregation, Colorectal cancerTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
9Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 3, 2023: 2, 2022: 3Per-year citation counts (last 5 years)
- References (count)
-
30Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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