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 chronic pain are consistent with EDS. Additionally, her gastrointestinal symptoms, such as loose stools, and her autonomic symptoms, such as orthostatic intolerance (e.g., lightheadedness, nausea), also support this diagnosis.
- Other Likely Diagnoses
- Fibromyalgia: The patient's chronic widespread pain, tender points, and fatigue are consistent with fibromyalgia.
- Irritable Bowel Syndrome (IBS): The patient's gastrointestinal symptoms, such as loose stools and abdominal pain, are consistent with IBS.
- Mast Cell Activation Syndrome: The patient's symptoms of flushing, hives, and heat intolerance could be indicative of mast cell activation.
- Autonomic Dysfunction: The patient's symptoms of orthostatic intolerance, heat intolerance, and gastrointestinal dysfunction suggest autonomic dysfunction.
- 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.
- Multiple Sclerosis: The patient's symptoms of numbness, tingling, and vision changes (e.g., depth perception) could be indicative of multiple sclerosis.
- Sleep Apnea: The patient's symptoms of excessive daytime sleepiness and fatigue could be indicative of sleep apnea.
- Alpha-1 Antitrypsin Deficiency: The patient's family history of alpha-1 antitrypsin deficiency makes this a diagnosis that should not be missed.
- Rare Diagnoses
- Postural Orthostatic Tachycardia Syndrome (POTS): The patient's symptoms of orthostatic intolerance and tachycardia could be indicative of POTS.
- Ehlers-Danlos Syndrome with Periodic Paralysis: The patient's symptoms of muscle weakness and paralysis could be indicative of this rare condition.
- Mitochondrial Disease: The patient's symptoms of fatigue, muscle weakness, and gastrointestinal dysfunction could be indicative of a mitochondrial disease.
- Autonomic Ganglionopathy: The patient's symptoms of autonomic dysfunction and gastrointestinal dysfunction could be indicative of this rare condition.