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Noonan syndrome: coagulation and clinical aspects
A A Massarano1, A Wood, R C Tait
1Department of Clinical Genetics, Royal Manchester Children's Hospital, UK.
Insights
Noonan syndrome patients often exhibit bleeding tendencies, particularly bruising and oral bleeding. Coagulation tests may not predict surgical bleeding risk, necessitating careful management during procedures.
Area of Science:
- Pediatric Hematology
- Genetics
- Clinical Medicine
Background:
- Noonan syndrome is a genetic disorder with variable clinical manifestations.
- Bleeding diathesis is a recognized but not fully understood complication of Noonan syndrome.
Purpose of the Study:
- To detail the clinical features of Noonan syndrome patients.
- To investigate the bleeding tendency in this cohort.
- To correlate clinical bleeding history with laboratory coagulation findings.
Main Methods:
- Clinical assessment of 18 patients (12M, 6F) aged 2.6-13.3 years.
- Utilized a bleeding tendency questionnaire.
- Performed laboratory coagulation studies, including partial thromboplastin time and clotting factor levels.
Main Results:
- Increased bruising or bleeding reported in 67% of patients, with oral bleeding in four.
- Prolonged partial thromboplastin time observed in 56%, linked to low clotting factors XI and XII.
- Coagulation results did not correlate with bruising history or predict bleeding risk.
Conclusions:
- Noonan syndrome patients require careful surgical planning, especially for oropharyngeal procedures.
- Immediate availability of blood products is crucial for managing potential surgical bleeding.
- Further research may be needed to refine bleeding risk assessment in Noonan syndrome.
Abstract:
The study aims were to review the clinical features of a group of patients with Noonan syndrome and to further elucidate their bleeding tendency. Eighteen patients (12M, 6F) aged 2.6-13.3 years underwent a clinical assessment, a questionnaire of their bleeding tendency and laboratory coagulation studies. Nine had cyanotic spells or breathing difficulties after birth; 11 had poor feeding or weight gain. Increased bruising or bleeding was reported in 12 (67%), four of whom had bleeding from the oral cavity. Excessive bleeding was not reported from operative procedures in other sites. Partial thromboplastin time was prolonged in 10 (56%) associated with low levels of clotting factors, particularly XI and XII. Bleeding times were normal; one had marginal thrombocytopenia. Coagulation results did not correlate with bruising history and may not predict bleeding risk. Care is required when Noonan syndrome patients undergo surgery, particularly of the oropharynx, with immediate availability of suitable blood products.