Differential Diagnosis for 19 yo Female with Hypermobile Joint, Thin Skin, SVT, GORD, Allergies, and Asthma

• Single Most Likely Diagnosis

  • Ehlers-Danlos Syndrome (EDS): This diagnosis is highly likely due to the combination of hypermobile joints, thin skin, and other systemic symptoms such as SVT (supraventricular tachycardia) and GORD (gastroesophageal reflux disease). EDS is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues.

• Other Likely Diagnoses

  • Marfan Syndrome: Although less likely than EDS due to the absence of specific mentions of tall stature, aortic root dilatation, or significant eye abnormalities, Marfan syndrome can present with joint hypermobility, skin features, and cardiac issues like SVT. The presence of allergies and asthma could also be seen in Marfan syndrome, though they are not core features.
  • Mast Cell Activation Syndrome (MCAS): This condition could explain the patient's allergies, asthma, and potentially the gastrointestinal symptoms (GORD) and even SVT, as mast cell activation can lead to a wide range of systemic symptoms. However, joint hypermobility and thin skin are not primary features of MCAS.

• Do Not Miss Diagnoses

  • Mitral Valve Prolapse: Often associated with hypermobile joints, this condition can lead to significant cardiac complications if not addressed. The presence of SVT increases the urgency of considering cardiac structural abnormalities.
  • Osteogenesis Imperfecta: Although primarily known for causing brittle bones, some types of osteogenesis imperfecta can present with hypermobile joints and thin skin. The risk of fractures and the potential for cardiac complications make this a "do not miss" diagnosis.

• Rare Diagnoses

  • Loeys-Dietz Syndrome: Characterized by arterial tortuosity and aneurysms, this syndrome can also present with hypermobile joints and skin features similar to EDS. The presence of SVT and other systemic symptoms could align with this diagnosis, but it is less common than EDS or Marfan syndrome.
  • Stickler Syndrome: This syndrome involves eye abnormalities, hearing loss, and joint hypermobility. While it's a less likely diagnosis given the information provided, it's a rare condition that could potentially explain some of the patient's symptoms, especially if there are unmentioned ocular or auditory findings.