A 24-year-old woman is being evaluated for chronic fatigue. She has a history of heavy menstrual periods since menarche and also recalls frequent nosebleeds as a child. Her past medical history is otherwise insignificant and she takes no medications. Laboratory studies show a hemoglobin level of 9.2 g/dL, a mean corpuscular volume of 72 fL, and decreased levels of ferritin. Which of the following is the most likely diagnosis?

Question

A 24-year-old woman is being evaluated for chronic fatigue.  She has a history of heavy menstrual periods since menarche and also recalls frequent nosebleeds as a child.  Her past medical history is otherwise insignificant and she takes no medications.  Laboratory studies show a hemoglobin level of 9.2 g/dL, a mean corpuscular volume of 72 fL, and decreased levels of ferritin. Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

11ec160b_3afb_e27e_9249_2ff4ec0f2a68_MD0001_00 This patient has microcytic anemia with a low ferritin level, which is characteristic of iron deficiency anemia. In developed countries, iron deficiency anemia is most commonly caused by overt or occult blood loss. The patient's history of heavy menstrual periods (menorrhagia) since menarche and frequent nosebleeds (epistaxis) as a child further suggests von Willebrand disease (vWD) as the most likely etiology of her anemia. In vWD, a mutation results in impaired synthesis in von Willebrand factor, leading to a qualitative defect in platelet binding and aggregation. As a result, patients with vWD experience easy bleeding from skin and mucosal sites, including the gingivae, nasal mucosa, gastrointestinal tract, and endometrium. (Choice A) Antiphospholipid syndrome causes a hypercoagulable state that increases the risk of thromboses and spontaneous abortion. (Choice B) Factor VIII deficiency causes hemophilia A. Severe forms of vWD can also result in factor VIII deficiency as factor VIII is protected from degradation by vWF. However, this patient does not have the characteristic deep-tissue bleeding (eg, bleeding into joints/muscles, gastrointestinal bleeding, hematuria) typically seen with clotting factor deficiencies. (Choice C) Factor XIII deficiency is an extremely rare autosomal recessive disorder that causes clot instability. Affected patients often have delayed, recurrent bleeding after trauma or surgery. Hemophilia-like bleeding (eg, deep-tissue bleeding) is seen in factor XIII deficiency. (Choice D) Immune thrombocytopenia (formerly immune thrombocytopenic purpura) produces isolated thrombocytopenia with episodic bleeding that is typically mucocutaneous (eg, petechiae, purpura, epistaxis). However, the associated bleeding is unlikely to be chronic and unrelenting since childhood. (Choice E) Protein C is a natural anticoagulant protein, and deficiency results in a procoagulant state that most commonly manifests with recurrent deep venous thromboses. Educational objective: Patients with von Willebrand disease often present with a lifelong history of mucosal bleeding, including gingival bleeding, epistaxis, and/or menorrhagia. These patients have normal platelet levels but typically have a prolonged bleeding time due to impaired platelet functioning.

A 24-Year-Old Woman Is Being Evaluated for Chronic Fatigue