Differential Diagnosis for Persistent Tachycardia with Lip Swelling, Brain Aneurysms, and Multiple Sclerosis

• Single Most Likely Diagnosis
  • Ehlers-Danlos Syndrome (EDS): This diagnosis is considered due to the combination of brain aneurysms (indicative of vascular fragility), multiple sclerosis (which could be related to the vascular or autoimmune aspects of EDS), and potential for autonomic dysfunction leading to tachycardia. Lip swelling could be related to the hypermobile type of EDS, which involves tissue fragility and easy bruising.
• Other Likely Diagnoses
  • Marfan Syndrome: Characterized by tall stature, arachnodactyly, and ectopia lentis, Marfan syndrome can also involve cardiac abnormalities (like tachycardia) and an increased risk of aortic aneurysms. However, the presence of lip swelling and multiple sclerosis makes it less likely than EDS.
  • Pseudoxanthoma Elasticum (PXE): This genetic disorder affects the elastic fibers present in the skin, retina, and cardiovascular system, potentially leading to vascular complications and aneurysms. While it could explain some of the symptoms, the combination with multiple sclerosis and lip swelling is less typical.
• Do Not Miss Diagnoses
  • Vasculitis (e.g., Takayasu Arteritis or Giant Cell Arteritis): These conditions can cause aneurysms, tachycardia due to inflammation or vascular insufficiency, and potentially neurological symptoms if there's central nervous system involvement. Missing these diagnoses could lead to severe complications, including blindness, stroke, or death.
  • Neurosyphilis: This condition can mimic multiple sclerosis and cause a wide range of neurological symptoms. It's also associated with cardiovascular syphilis, which can lead to aneurysms. The lip swelling could be related to gummas in tertiary syphilis.
• Rare Diagnoses
  • Loeys-Dietz Syndrome: A disorder that affects the connective tissue in the body and is characterized by aneurysms, hypertelorism, and bifid uvula or cleft palate. While it could explain the aneurysms and potentially some autonomic dysfunction, the specific combination with multiple sclerosis and lip swelling is unusual.
  • Sturge-Weber Syndrome: Characterized by a port-wine stain (which could be mistaken for lip swelling), this syndrome involves neurological abnormalities and can have vascular malformations. However, the direct connection to brain aneurysms and multiple sclerosis is less clear.