Differential Diagnosis for 25 yo Female with Ehlers-Danlos

Single Most Likely Diagnosis

• Pulmonary Embolism (PE) with atypical presentation: Although the D-dimer is negative, patients with Ehlers-Danlos syndrome may have a higher risk of vascular complications, including PE. The negative D-dimer does not entirely rule out PE, especially if the clinical suspicion remains high due to the combination of chest pain, shortness of breath (SOB), and left arm pain.

Other Likely Diagnoses

• Costochondritis or Musculoskeletal Chest Pain: Given the patient's history of Ehlers-Danlos syndrome, musculoskeletal issues are common. The chest pain and left arm pain could be related to musculoskeletal issues rather than cardiac or pulmonary causes.
• Anxiety or Panic Attack: The pre-syncopal feeling and the absence of clear cardiac or pulmonary findings could suggest an anxiety or panic disorder, which can present with chest pain and SOB.
• Gastroesophageal Reflux Disease (GERD): GERD can cause chest pain and SOB, and while less directly related to Ehlers-Danlos, it's a common condition that could explain some of the patient's symptoms.

Do Not Miss Diagnoses

• Aortic Dissection: Although less common, Ehlers-Danlos syndrome significantly increases the risk of aortic dissection. The presence of chest pain, left arm pain, and a pre-syncopal episode makes this a critical diagnosis not to miss, despite the negative initial tests.
• Spontaneous Coronary Artery Dissection (SCAD): This is another vascular emergency that is more common in young women, especially those with Ehlers-Danlos syndrome. The negative EKG does not rule out SCAD, as the dissection may not always cause significant EKG changes initially.
• Pneumothorax: A spontaneous pneumothorax could explain the chest pain and SOB. Although the chest X-ray is negative, a small pneumothorax might not be visible, and clinical suspicion should remain high in a patient with risk factors.

Rare Diagnoses

• Mitral Valve Prolapse with Regurgitation: While not directly related to the acute presentation, patients with Ehlers-Danlos syndrome can have mitral valve prolapse. However, this would less likely explain the acute onset of symptoms described.
• Pericarditis: This could cause chest pain and SOB, but the negative EKG and chest X-ray make it less likely. It remains a consideration in the broad differential for chest pain.