A 33-year-old woman (gravidity 2, parity 2) delivered a male neonate at 35 weeks’ gestation via cesarean section necessitated by premature rupture of membranes. The neonate weighed 2350 g, and had Apgar score of 7 at 1 min, and 8 at 5 min of birth. Immediately after birth, the baby had extensive bruising all over his body, and developed visible jaundice on the second day of life, for which he was referred to us. The mother had a pulmonary embolism during the pregnancy which was treated with enoxaparin that was continued after delivery. The patient’s 10-year-old brother had GT, presenting with bruises without trauma from 2 months of age, but no history of excessive bleeding; his molecular thrombophilia panel had not yet been assessed.

The incidence of GT is significantly higher in countries where consanguineous marriages are widespread [2]. Therefore, details about family history and age at onset are important in making the diagnosis and choosing the appropriate treatment. Patients of GT often tend to bleed throughout their lives. GT is divided into three subtypes based on the GP IIb–IIIa levels: type-I (<5% of normal), type-II (5-20%), and those with normal or near-normal GP levels but with defective functioning are classified as type III.

In terms of the differential diagnosis, due to the absence of thrombocytopenia and giant platelets, Bernard-Soulier syndrome and other giant platelet disorders were not considered. As blood coagulation parameters were normal, hemophilia was excluded. Von Willebrand factor (VWF) levels were not examined because there was no family history of the disease. We think that the lack of severe bleeding during the neonatal period in this patient with type 1 GT may have been due to an increased tendency to thrombosis. Evidence strongly suggests that the bleeding phenotype in GT cases is multifactorial as the frequency, timing, and severity of bleeding have been shown to vary among siblings in the same family [5]. Thrombophilic mutations such as factor V Leiden are thought to have a potentially protective effect as it has been observed that such mutations are more frequent in GT cases with less bleeding. However, there is no conclusive evidence to support this hypothesis [6,7].

Factor V Leiden and MTHFR C677T mutations are among the screening tests used to screen for thromboembolism in neonates. As in our case, it is increasingly common to test infants whose families are known to have hereditary thrombophilia. The necessity for these tests varies according to the clinical condition of the patient. Furthermore, it has been shown that thrombosis may occur in GT cases where there are also thrombophilic risk factors, even in the absence of severe platelet aggregation disorders [8,9].

Family education is the highest priority in terms of treatment options. Nonsteroidal anti-inflammatory drugs or aspirin should be avoided. While platelet transfusion is the standard treatment for severe bleeding, topical measures such as compression for superficial bleeding on accessible areas may suffice in most instances. In recent years, the use of recombinant factor VIIa has yielded good results in the prevention and treatment of bleeding [10]. The use of anticoagulant therapy is also indicated when an unexpected thrombosis develops in GT cases, accompanied by thrombophilic risk factors. As there was no history of bleeding or thrombosis in our case, no treatment apart from general precautions was recommended.

In conclusion, life-threatening bleeding may not be the first finding in thrombasthenia cases accompanied by thrombophilic risk factors. Family history can be a guide for the early diagnosis of such cases.

Contributors: NDG and FHY: managed the case and drafted the manuscript; HT: helped in diagnosis and manuscript writing; NT: manuscript revision; ÜÇ: helped in management and manuscript writing.

Funding: None; Competing interest: None stated.

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