Swiss Type Amyloid Polyneuropathy

Swiss Type Amyloid Polyneuropathy, also known as ATTR Val30Met, is a rare, progressive, and hereditary neuropathy characterized by the accumulation of amyloid fibrils throughout the body.

Definition

Swiss Type Amyloid Polyneuropathy is a specific form of transthyretin (TTR) amyloidosis, caused by a mutation in the TTR gene. This pathology leads to abnormal protein aggregation, primarily affecting the peripheral nervous system, heart, and gastrointestinal tract.

Symptoms

Patients with Swiss Type Amyloid Polyneuropathy may experience a range of symptoms, including:

  • Progressive sensorimotor polyneuropathy
  • Pain and numbness in the extremities
  • Muscle weakness and loss of muscle mass
  • Autonomic dysfunction, such as postural hypotension and gastrointestinal disturbances
  • Cardiac manifestations, including arrhythmias, heart failure, and cardiomyopathy

Diagnosis

Diagnosing Swiss Type Amyloid Polyneuropathy involves:

  1. Clinical assessment of symptoms and medical history
  2. Genetic testing to identify the TTR gene mutation
  3. Nerve conduction studies and electromyography
  4. Biopsy of affected organs to detect amyloid deposits
  5. Cardiac imaging and functional tests to assess heart involvement

Treatment

Treatment options for Swiss Type Amyloid Polyneuropathy aim to slow down disease progression, alleviate symptoms, and manage complications. These may include:

  • TTR stabilizers to hinder amyloid fibril formation
  • Supportive care, including pain management and physical therapy
  • Heart medications and monitoring for cardiac dysfunction
  • Liver transplantation to reduce production of abnormal TTR protein
  • Research into emerging therapies, such as gene silencing and gene editing approaches

Early detection and intervention can significantly impact the prognosis and quality of life for individuals with Swiss Type Amyloid Polyneuropathy.

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