Could my mother?s unpredictable episodes of sudden high blood pressure, nausea, dry heaving, diarrhea, muscle weakness, mild chest pain, and dizziness?which have not improved with Nebicard, Vertin, Sebelium, Hosit, Telsartan, Eltroxin, or Ecospirin AV, and show normal results on all her brain, heart, spine, and blood vessel scans?be caused by a rare blood disorder like acute intermittent porphyria or a heme deficiency, and how can a blood specialist test for and diagnose this?
Yes, her symptoms of episodic high blood pressure, severe nausea, diarrhea, and muscle weakness could potentially align with a rare disorder like acute intermittent porphyria. A hematologist can easily investigate this. The primary screening test is a simple urine test to measure porphobilinogen levels, which is most accurate when collected during or shortly after an attack. Genetic testing can also confirm a diagnosis. Please be reassured that finding the right specialist is a major step toward getting her the targeted treatment and relief she deserves.
