Pbach

Anna,
I had never heard of the disease either until we got this patient.  From looking it up on the internet, I learned that it is basically a malfunction of the mitochondria (where the Krebs Cycle takes place), the "power house" of all functions and processes in the human body and is acquired genetically. It is called a metabolic syndrome because it is associated with multi-organ failure including neuropathy and muscle degeneration as is the case for our patient. The only treatment is to support each organ systems symptom, i.e.. dialysis for kidney failure, insulin for diabetes, appropriate nutrition, meds, and or surgery for GI malfunctions, therapy and meds for neuro-muscular disease, blood txf for chronic anemia etc So, not a good prognosis for these patients. And, Unfortunately our patient acquired VWD genetically along with this syndrome. I'm glad you asked, it inspired me to learn more about it myself.
Perri

Anna,
I had never heard of the disease either until we got this patient.  From looking it up on the internet, I learned that it is basically a malfunction of the mitochondria (where the Krebs Cycle takes place), the "power house" of all functions and processes in the human body and is acquired genetically. It is called a metabolic syndrome because it is associated with multi-organ failure including neuropathy and muscle degeneration as is the case for our patient. The only treatment is to support each organ systems symptom, i.e.. dialysis for kidney failure, insulin for diabetes, appropriate nutrition, meds, and or surgery for GI malfunctions, therapy and meds for neuro-muscular disease, blood txf for chronic anemia etc So, not a good prognosis for these patients. And, Unfortunately our patient acquired VWD genetically along with this syndrome. I'm glad you asked, it inspired me to learn more about it myself.
Perri