Differential Diagnosis
- Single Most Likely Diagnosis
- Ehlers-Danlos Syndrome (EDS): The patient's symptoms of joint hypermobility (e.g., loose wrists, ability to pop joints in and out of socket), easy bruising, and gastrointestinal issues (e.g., loose stools) are consistent with EDS. Additionally, the patient's family history of autoimmune disorders and her own symptoms of chronic pain, fatigue, and autonomic dysfunction (e.g., heat intolerance, orthostatic intolerance) are also seen in EDS.
- Other Likely Diagnoses
- Fibromyalgia: The patient's symptoms of chronic pain, fatigue, and tender points are consistent with fibromyalgia. The patient's family history of fibromyalgia and other autoimmune disorders also supports this diagnosis.
- Postural Orthostatic Tachycardia Syndrome (POTS): The patient's symptoms of orthostatic intolerance (e.g., lightheadedness, nausea), high resting heart rate, and exacerbation of symptoms with physical movement are consistent with POTS.
- Autonomic Dysfunction: The patient's symptoms of heat intolerance, cold intolerance, and orthostatic intolerance suggest autonomic dysfunction, which can be seen in various conditions, including EDS, POTS, and fibromyalgia.
- Narcolepsy: The patient's symptoms of excessive daytime sleepiness, sleep paralysis, and cataplexy-like episodes (e.g., feeling like she is "floating out of her body") are consistent with narcolepsy, especially given her family history of narcolepsy.
- Do Not Miss Diagnoses
- Lupus: The patient's increasing ANA score and symptoms of chronic pain, fatigue, and autonomic dysfunction warrant consideration of lupus, especially given her family history of autoimmune disorders.
- Rheumatoid Arthritis: The patient's symptoms of chronic pain, fatigue, and joint issues (e.g., painful periods, sharp cramping) could be consistent with rheumatoid arthritis, especially given her family history of autoimmune disorders.
- Multiple Sclerosis: The patient's symptoms of numbness, tingling, and vision changes (e.g., depth perception issues) could be consistent with multiple sclerosis, although this diagnosis is less likely given the patient's overall clinical presentation.
- Rare Diagnoses
- Mast Cell Activation Syndrome: The patient's symptoms of heat intolerance, cold intolerance, and gastrointestinal issues (e.g., loose stools) could be consistent with mast cell activation syndrome, although this diagnosis is rare and would require further evaluation.
- Mitochondrial Disease: The patient's symptoms of chronic fatigue, muscle pain, and autonomic dysfunction could be consistent with mitochondrial disease, although this diagnosis is rare and would require further evaluation.