Yum yum. Yes, we know what you're thinking. It's time for a Christmas treat and ice-cream seem to be the perfect choice. All of us love ice-cream, as a child or as an adult - we love ice-cream (Or maybe its just me :D). However, ice-cream may not very well be the best choice for a snack for someone living with Andersen's Disease. (Not the compulsive disorder to eat ice-cream like me, but the other one, amylopectinosis / branching enzyme deficiency)
Previously, we talked about what Andersen's Disease is and its diagnosis. Let us now talk a little bit about the symptoms for the disease, since Andersen's disease is symptom-specific and treatment is unique for each patient based on the array of symptoms displayed.
Andersen's disease affects the liver, muscles, heart, nervous system and more, thus, biopsies are taken for examination to look for abnormally structured glycogen or amylopectin-like deposits for diagnosis.
Having known these organs / systems are affected, we are able to better associate the symptoms with the disease itself. For example, accumulation of abnormal glycogen caused by the lack of a GBE in skeletal muscle may lead to muscle weakness and fatigue, because the glycogen then cannot be converted back to glucose to be used to produce energy for exercise.
Also, the presence of insoluble glycogen can induce foreign-body reactions to lead to cellular injury. The rapid injury to cells will lead to the replacement of tissue with scar tissue (fibrosis) and regenerative nodules. As such, a patient can develop cirrhosis, usually to the liver. This can lead to liver failure, that is irreversible.
There are many other symptoms found to be associated with Andersen's Disease. Some of which are:
- Muscle weakness & fatigue
- Cirrhosis
- Hypertension.
- Failure to grow & gain weight
- Hepatosplenomegaly (Enlargement of spleen)
There are many more symptoms that could be tell-tale signs of Andersen's Disease, but of course, like every other disease I have learnt, I always end up self diagnosing myself as an affected individual by this disease haha.
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