Paramyloidosis, also called foot disease or Familial Amyloidotic Polyneuropathy, is a rare disease that has no cure, of genetic origin, characterized by the production of amyloid fibers by the liver, which are deposited in tissues and nerves, destroying them slowly.
This disease is called the disease of the feet because it is in the feet that the symptoms first appear and, little by little, they appear in other areas of the body.
In paramyloidosis, an impairment of peripheral nerves causes the areas innervated by these nerves to be affected, leading to changes in sensitivity to heat, cold, pain, tactile and vibration. In addition, the motor capacity is also affected and the muscles lose their muscle mass, suffering a great atrophy and loss of strength, which leads to difficulty in walking and using the limbs.
What symptoms
Paramyloidosis affects the peripheral nervous system, leading to:
- Heart problems, such as decreased blood pressure, arrhythmias and atrioventricular obstructions; Erectile dysfunction; Gastrointestinal problems, such as constipation, diarrhea, fecal incontinence and nausea and vomiting, due to difficulty in gastric emptying; Urinary dysfunctions, such as retention and urinary incontinence and changes in glomerular filtration rates; ocular disorders, such as pupil deterioration and consequent blindness.
In addition, in a terminal stage of the disease, the person may suffer from reduced mobility, needing a wheelchair or staying in bed.
The disease usually manifests between the ages of 20 and 40, leading to death 10 to 15 years after the first symptoms appear.
Possible causes
Paramyloidosis is an autosomal dominant inherited disease that has no cure and is caused by a genetic mutation in the TTR protein, which consists of the deposition in the tissues and nerves of a fibrillar substance produced by the liver, called amyloid.
The deposition of this substance in the tissues leads to a progressive decrease in sensitivity to stimuli and motor capacity.
How the treatment is done
The most effective treatment for paramyloidosis is liver transplantation, which is able to slow the progression of the disease somewhat. The use of immunosuppressive drugs is indicated to prevent the individual's body from rejecting the new organ, but unpleasant side effects may arise.
In addition, the doctor may also recommend a medication, called Tafamidis, which helps to slow the progression of the disease.
