PMC5499493_01
Patient's family tree
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A 20-year-old woman (Figure 1, III-3) was admitted to our department after being diagnosed with spontaneous left lower limb deep vein thrombosis (DVT) located in the external iliac vein. Finally, the diagnosis of inherited thrombocytopenia was suspected because there was a family history of unexplained thrombocytopenia with at least six members known to be thrombocytopenic (Figure 1): her two sisters (Figure 1; III-1 and III-2); her father (Figure 1; II-4); two aunts (Figure 1; II-2 and II-3), and her grandmother (Figure 1; I-2). We evidenced two family members positive for this mutation: the maternal grandmother (Figure 1; I-2) and one aunt (Figure 1; II-2).