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), rapid heart rate, and autonomic dysfunction (e.g., heat intolerance) are consistent with POTS.
- Autonomic Dysfunction: The patient's symptoms of orthostatic intolerance, heat intolerance, and gastrointestinal issues are consistent with autonomic dysfunction.
- Mast Cell Activation Syndrome: The patient's symptoms of random flushing, gastrointestinal issues, and autonomic dysfunction are consistent with mast cell activation syndrome.
- Do Not Miss Diagnoses
- Multiple Sclerosis: The patient's symptoms of numbness, tingling, and vision changes (e.g., blurred vision) could be indicative of multiple sclerosis. Although the patient's symptoms are not typical of multiple sclerosis, it is a diagnosis that should not be missed due to its potential for significant morbidity.
- Lupus: The patient's family history of lupus and her own symptoms of chronic pain, fatigue, and autonomic dysfunction could be indicative of lupus. Although the patient's ANA score has been variable, it is still important to consider lupus as a potential diagnosis.
- Thyroid Disorder: The patient's TSH score has been variable, and her symptoms of fatigue, weight changes, and heat intolerance could be indicative of a thyroid disorder.
- Rare Diagnoses
- Mitochondrial Myopathy: The patient's symptoms of chronic fatigue, muscle weakness, and autonomic dysfunction could be indicative of a mitochondrial myopathy.
- Dysautonomia: The patient's symptoms of orthostatic intolerance, heat intolerance, and gastrointestinal issues are consistent with dysautonomia.
- Small Fiber Neuropathy: The patient's symptoms of chronic pain, numbness, and tingling could be indicative of small fiber neuropathy.