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Transthyretin amyloidosis 

Today, at the MCSC Center for Neuromuscular Pathology, our specialists are engaged in the treatment and monitoring of patients with transthyretin amyloidosis.

Systemic amyloidosis is a group of diseases (violation of protein metabolism) in which a specific protein (amyloid) is deposited in the tissues, which leads to damage to various organs and systems. 

  • One of the varieties of this disease is transthyretin amyloidosis.

Transthyretin amyloidosis (ATTR-amyloidosis) – this is a progressive disease that occurs due to the accumulation of deformed amyloid formed from the protein transthyretin (TTR) in the peripheral nervous system (somatic and autonomic), heart, kidneys, gastrointestinal tract and other organs. 

  • Such protein deposits can lead to damage and malfunction of internal organs and peripheral nerves. 
  • As a rule, the symptoms of amyloidosis are nonspecific and can mimic other diseases. 

An important feature of this disease is that it is presented in two forms:

  • Acquired, developing against the background of abnormal accumulation of wild-type transthyretin
  • Hereditary, the cause of which are currently known more than 140 variants of mutations in the TTR gene

In transthyretin polyneuropathy, amyloid accumulation occurs mainly in the sensitive fibers of peripheral nerves. 

  • It is manifested by a violation of sensitivity, tingling, numbness or pain in the hands and feet. Damage to the autonomic nervous system (nerves that affect the functioning of internal organs), digestive tract and heart is also often detected. 

What can indicate the development of this disease?

  • Progressive symmetrical sensorimotor polyneuropathy: muscle weakness in the legs or arms, thinning of muscles, decreased sensitivity, unbalanced gait, staggering when walking, dizziness
  • Bilateral carpal tunnel syndrome (pain and numbness of the fingers of the hands)
  • Spinal canal stenosis (back and leg pain, weakness, lameness)
  • Damage to the central nervous system (dementia, ataxia – violation of the coordination of movements of various muscles, epileptic seizures, strokes)
  • Autonomic disorders (orthostatic hypotension - excessive decrease in blood pressure when taking an upright position, urinary tract infections, sweating disorders, erectile dysfunction)
  • Eye damage (clouding of the vitreous, decreased visual acuity, glaucoma)
  • Cardiac dysfunction (arrhythmias, restrictive cardiomyopathy)
  • Disruption of the gastrointestinal tract (diarrhea, nausea, vomiting, weight loss, organomegaly – abnormal enlargement of organs)
  • Impaired renal function (microalbuminuria, azotemia, renal failure)

Only a comprehensive examination will help to make an accurate diagnosis.

  • Timely diagnosis of symptoms allows you to select medications that slow down the progression of the disease and improve the patient's quality of life.

Currently, due to the availability of modern research methods, cases of the disease have become more frequent, including in the early stages, which is especially important for the appointment of effective therapy.

You can make an appointment for a consultation at the neuromuscular pathology center by phone:

  • +7 (495) 304-30-39 (MHI)
  • 8 (800) 234-24-22 (PMU)
GBUZ Moscow Clinical Scientific Center named after Loginov MHD