Differential Diagnosis

The patient's symptoms suggest a complex condition with multiple systemic manifestations. Here's a categorized differential diagnosis:

• Single most likely diagnosis

  • Hypermobile Ehlers-Danlos Syndrome (hEDS): The patient's history of hypermobility, joint pain and instability, frequent joint injuries and subluxation, easy bruising, fatigue, orthostatic intolerance, and a high Beighton score of 8 are all characteristic features of hEDS. The presence of soft and stretchy skin, headaches, neck pain, peripheral neuropathy, GI issues, TMJ disorder, and abnormal scars further support this diagnosis.

• Other Likely diagnoses

  • Postural Orthostatic Tachycardia Syndrome (POTS): The patient's symptoms of orthostatic intolerance, fatigue, headaches, and joint pain are consistent with POTS, which often co-occurs with hEDS.
  • Mast Cell Activation Syndrome (MCAS): The patient's easy bruising, fatigue, headaches, GI issues, and orthostatic intolerance could be indicative of MCAS, which is sometimes associated with hEDS.
  • Fibromyalgia: The patient's widespread joint pain, fatigue, headaches, and sleep disturbances are consistent with fibromyalgia, although this diagnosis alone does not account for all the patient's symptoms.

• Do Not Miss

  • Marfan Syndrome: Although less likely given the patient's Beighton score and lack of reported cardiac or ocular abnormalities, Marfan Syndrome is a potentially life-threatening condition that requires consideration due to the patient's symptoms of joint hypermobility, easy bruising, and chest pain.
  • Osteogenesis Imperfecta: This condition, characterized by brittle bones and easy fracturing, is a less likely but potentially serious diagnosis that should be considered due to the patient's easy bruising and joint instability.

• Rare diagnoses

  • Loeys-Dietz Syndrome: This rare genetic disorder is characterized by hypermobility, easy bruising, and vascular abnormalities, which could explain some of the patient's symptoms, although it is less likely given the lack of reported vascular or cardiac abnormalities.
  • Stickler Syndrome: This rare genetic disorder is characterized by hypermobility, eye abnormalities, and hearing loss, which could explain some of the patient's symptoms, although it is less likely given the lack of reported eye or hearing abnormalities.