Differential Diagnosis
- Single Most Likely Diagnosis
- Ehlers-Danlos Syndrome (EDS): The patient's symptoms of chronic pain, easy bruising, poor wound healing, and joint hypermobility are consistent with EDS. The presence of scoliosis in the mother and the patient's own history of ovarian cysts and teratomas may also suggest a connective tissue disorder. The patient's autonomic symptoms, such as orthostatic intolerance, heat intolerance, and cold intolerance, are also common in EDS.
- Other Likely Diagnoses
- Fibromyalgia: The patient's chronic widespread pain, fatigue, and tender points are consistent with fibromyalgia. The presence of irritable bowel symptoms and headaches also supports this diagnosis.
- Postural Orthostatic Tachycardia Syndrome (POTS): The patient's high resting heart rate, orthostatic intolerance, and symptoms of lightheadedness and nausea are consistent with POTS.
- Mast Cell Activation Syndrome: The patient's symptoms of flushing, hives, and heat intolerance may suggest mast cell activation syndrome.
- Autoimmune Disorder (e.g. Lupus, Rheumatoid Arthritis): The patient's increasing ANA score and family history of autoimmune disorders may suggest an underlying autoimmune condition.
- Do Not Miss Diagnoses
- Multiple Sclerosis: The patient's symptoms of numbness, weakness, and vision changes (e.g. "earthquake" like feeling) may suggest multiple sclerosis. Although the patient's symptoms are not typical, MS can present with a wide range of symptoms and should not be missed.
- Adrenal Insufficiency: The patient's symptoms of fatigue, orthostatic intolerance, and heat intolerance may suggest adrenal insufficiency. This diagnosis is critical to consider as it can be life-threatening if left untreated.
- Pheochromocytoma: The patient's symptoms of orthostatic intolerance, tachycardia, and flushing may suggest pheochromocytoma. This diagnosis is critical to consider as it can be life-threatening if left untreated.
- Rare Diagnoses
- Mitochondrial Myopathy: The patient's symptoms of fatigue, muscle weakness, and exercise intolerance may suggest a mitochondrial myopathy.
- Autonomic Dysfunction (e.g. Dysautonomia): The patient's symptoms of orthostatic intolerance, heat intolerance, and cold intolerance may suggest autonomic dysfunction.
- Neuropathic Pain Disorder (e.g. Small Fiber Neuropathy): The patient's symptoms of chronic pain, numbness, and tingling may suggest a neuropathic pain disorder.