Differential Diagnosis
- Single Most Likely Diagnosis
- Ehlers-Danlos Syndrome (EDS): The patient's symptoms of joint hypermobility (e.g., popping fingers, loose wrists, ability to touch hands behind her back), easy bruising, and gastrointestinal issues (e.g., loose stools) are consistent with EDS. Additionally, her history of chronic pain, fatigue, and autonomic dysfunction (e.g., orthostatic intolerance, temperature intolerance) also support this diagnosis.
- Other Likely Diagnoses
- Fibromyalgia: The patient's chronic widespread pain, fatigue, sleep disturbances, and tender points are all consistent with fibromyalgia.
- Postural Orthostatic Tachycardia Syndrome (POTS): The patient's high resting heart rate, orthostatic intolerance, and symptoms of lightheadedness and nausea support this diagnosis.
- Irritable Bowel Syndrome (IBS): The patient's symptoms of loose stools, abdominal pain, and bowel habits that are affected by her menstrual cycle are consistent with IBS.
- Mast Cell Activation Syndrome: The patient's symptoms of flushing, hives, and heat intolerance, as well as her history of allergic reactions (e.g., to gabapentin), support this diagnosis.
- Do Not Miss Diagnoses
- Lupus: The patient's positive ANA test and family history of lupus make this a diagnosis that should not be missed.
- Rheumatoid Arthritis: The patient's family history of rheumatoid arthritis and her symptoms of joint pain and swelling make this a diagnosis that should be considered.
- Multiple Sclerosis: The patient's symptoms of numbness, tingling, and vision changes (e.g., "earthquake" feeling in her head) could be indicative of multiple sclerosis.
- Autonomic Dysfunction: The patient's symptoms of orthostatic intolerance, temperature intolerance, and gastrointestinal dysfunction could be indicative of autonomic dysfunction, which can be a feature of various underlying conditions.
- Rare Diagnoses
- Narcolepsy: The patient's symptoms of excessive daytime sleepiness, sleep paralysis, and cataplexy (e.g., "floating out of her body" feeling) could be indicative of narcolepsy, although this is less likely given her other symptoms.
- Alpha-1 Antitrypsin Deficiency: The patient's family history of alpha-1 antitrypsin deficiency makes this a rare diagnosis that should be considered, although her symptoms do not strongly support this diagnosis.
- Ehlers-Danlos Syndrome, Vascular Type: The patient's symptoms of easy bruising and joint hypermobility could be indicative of the vascular type of EDS, which is a rare and potentially life-threatening condition.