Differential Diagnosis for 13-year-old Female with Hematemesis, Gumbleeds, and Epistaxis

Single Most Likely Diagnosis

• Von Willebrand Disease: This condition is the most common hereditary coagulation abnormality and can present with mucocutaneous bleeding symptoms such as epistaxis, gum bleeding, and gastrointestinal bleeding, despite having a normal platelet count and normal PT/INR and aPTT. The symptoms described are classic for this condition, especially given the duration and nature of the bleeding.

Other Likely Diagnoses

• Platelet Function Disorders: Although the platelet count is normal, disorders affecting platelet function (like Bernard-Soulier syndrome or Glanzmann thrombasthenia) can lead to similar bleeding manifestations. These conditions often present with mucocutaneous bleeding.
• Hemophilia A or B (Carrier Status): Females can be carriers of hemophilia A or B and may exhibit mild symptoms due to lyonization (X-chromosome inactivation), although this is less common. Normal PT/INR and aPTT do not entirely rule out carrier status, as these tests may not be sensitive enough to detect mild factor deficiencies.
• Gastrointestinal or Nasal Anatomical Abnormalities: Conditions like gastric or nasal polyps, vascular malformations, or other anatomical issues could cause recurrent bleeding but are less likely given the combination of symptoms.

Do Not Miss Diagnoses

• Leukemia or Lymphoma: Although less likely given the normal platelet count and coagulation studies, malignancies can sometimes present with bleeding due to various mechanisms, including thrombocytopenia (which is not present here), coagulopathy, or direct invasion of vessels.
• Vitamin K Deficiency: This could potentially affect coagulation factor production, but the normal PT/INR and aPTT make this less likely unless the deficiency is very mild or recent.
• Scurvy (Vitamin C Deficiency): Can cause bleeding gums and other mucocutaneous bleeding due to impaired collagen synthesis, affecting vessel wall integrity.

Rare Diagnoses

• Ehlers-Danlos Syndrome: A group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Some types can lead to easy bruising, poor wound healing, and bleeding.
• Pseudoxanthoma Elasticum (PXE): A rare genetic disorder that can lead to bleeding due to vascular fragility.
• Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia): Characterized by the presence of multiple arteriovenous malformations that can lead to recurrent bleeding, including epistaxis and gastrointestinal bleeding.

Each of these diagnoses has a different level of likelihood based on the presentation, but considering the combination of symptoms and the duration, Von Willebrand Disease stands out as a particularly plausible explanation. However, a thorough diagnostic workup, including specific tests for these conditions, is necessary to establish a definitive diagnosis.