- CASE FILE
Abdominal pain-worse if I eat. Since March-lost 23lbs. Liver fxns elevated, fatty liver on CT. Muscle contractions. Legs collapse w/exercise
ABOUT THIS CASE FILE
My symptoms began with exercise/sports intolerance in high school with leg pain and fatigue, vision loss. My symptoms have progressively increased to become more severe with each decade of my life. I’m 60 years old and have no life. My pain is 24/7. I cannot go anywhere without increasing pain. I had a Rheumatologist to say she felt I have an enzyme deficiency affecting my mitochondria due to my symptoms especially since I have so many drug allergies/intolerances. I had a muscle biopsy but it was inconclusive. So topic was dropped. My current GI/Liver doctor feels it is an absorption problem/enzyme deficiency. So we are back to this. I feel I fit a Long Chain Fatty Acid abnormality, Carnitine deficiency, Possibly CPT2. Since I have classic symptoms: Cardiac Arrhythmia, Muscle Pain/weakness, Collapsible fatigue, Hypoglycemia-Insulin Resistance, Vision Problems, Exercise Intolerance, Extreme heat intolerance, Endocrine Problems, Respiratory Problems, Liver Problems/Fatty Liver, Nervous System damage (neuropathy), Anesthesia Problems, Anemia. Fifty percent of patients do not show on muscle biopsy. I do feel it is genetic and want a genetic evaluation. My brother had similar symptoms. Liver functions, Alkaline Phosphate, sed rate, Anion Gap, neutrophils, HDL, LDL elevated. Ketones, Protein, Blood, WBC, RBC elevated in urine. Urine Bilirubin slightly elevated. Albumin low. Vitamin D Deficient. Clotting and Bleeding abnormalities. Polyuria, Frequency. Legs collapse on treadmill. On walks legs loose feeling and stop, cannot walk. I cannot go anywhere anymore. Liver Pain with eating. Pain with walking. Since March I have lost 23 lbs. Only eat bread, crackers, some fresh fruit. GGT, B. Nat. Peptide, CRP elevated. Fat in stool.