Genetic testing is the key
  • Teste genético
Sixty years after the first description in the literature of cases in Portugal, paramyloidosis is now identified in many people around the world. Due to improved health care, physicians in specialized centers now have more experience in the diagnosis and treatment of PARAMYLOIDOSE.
Origins in Portugal
Familial Amyloid Polyneuropathy associated with Transthyretin (paramyloidosis) was originally described by Dr. Corino de Andrade in 1952 in Portugal. More cases were quickly identified in Japan and Sweden.
Although paramyloidosis is a very rare disease (less than 1 in 100,000 people worldwide), it is more frequent in some countries, as is the case in Portugal where the Val30Met mutation occurs in 1 in 1000 people in The Póvoa de Varzim area in the north of Portugal. More than 100 different mutations of the transthyretin gene (TTR) have been described worldwide, with the Val30Met mutation being most frequent.
The same genetic alteration may be associated with several types of symptoms in different countries In Portugal, most people with the genetic mutation, Val30Met, develop symptoms in their 30s and 40s, whereas in Sweden only 5-10% of people with the same mutation develop the disease only around 50 years of age .
Other TTR mutations are associated with different symptoms. For example, the V122I mutation of TTR, common in African Americans, is associated with cardiac manifestations (heart failure), without manifestations of polyneuropathy as in the Portuguese form of paramyloidosis associated with Val30Met.
How is paramyloidosis diagnosed?
If there is a known family history, the diagnosis of paramyloidosis is usually made by genetic testing for detection of the mutation present in the affected family member. The confirmation of the presence of amyloid in a tissue (salivary gland, abdominal fat, nerve, etc.) through a biopsy is a complementary examination that allows the identification of amyloid accumulation responsible for the symptoms of the disease.
If there is no family history the diagnosis may be more difficult, and biopsy is often the first diagnostic test.
Upon confirmation of deposition of TTR amyloid in a tissue, genetic testing is performed in the search for a mutation in the TTR gene.
In addition, cardiac evaluation may be an important diagnostic test for paramyloidosis, especially in the predominantly cardiogenic forms.
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