Just after the Middle Ages, in small fishing villages in the north of Portugal, arose an evil stranger The strongest men, at a certain point in their lives, began to drag their feet; later, to show problems to walk and, finally, to die.
More than four hundred years later, a doctor finally described the condition medically. His name was Corino Andrade, and it is his last name that colloquially identifies the Familial Amyloidotic Polyneuropathy (FAP).
What is Andrade’s disease?
As explained by the Valverdeña Association of Andrade’s Disease, this pathology is an amyloidosis (accumulation of a protein substance called amyloid) disabling and lethal, which affects the connective system and the peripheral nervous system. It is the result of a genetic defect on chromosome 18.
As this accumulation occurs, the patients manifest the characteristic symptomatology, which is that of a progressive mixed neuropathy. Normally, the onset of symptoms occurs around the fourth decade of life.
Initially, there is usually a tingling, numbness, loss of strength and sensitivity in the lower extremities, which progresses to the rest of the body. Frequently, there are stinging, pain, sensations of electric shock and a sensation of cold.
On the other hand, these patients also show signs of another type, such as gastrointestinal (constipation, chronic diarrhea, malabsorption, bacterial overgrowth…), endocrinological (pancreatic involvement, nausea, vomiting, regurgitation, loss of weight and appetite, anemia, fluid retention, edema, dizziness…), cardiac, renal , visual or sexual. Taking all this into account, the death of the patient usually occurs within ten years.
Can it be treated?
Fortunately they exist ways to stabilize progression of Andrade’s disease. In 1990 it was discovered that a liver transplant carried out in time could greatly reduce the damage, although this approach is not always entirely effective.
More recently, in 2014, it was found that some drugs, the TTR stabilizers (a protein that is altered by the genetic defect that causes the disease). In 2020, this approach was joined by the inhibitors of the same proteinof which two are approved in Spain.
References
Valverdeña Association of Andrade’s Disease. Andrade’s disease. Consulted online at https://www.enfermedadandradevalverde.com/enfermedad-andrade/ on 02/28/2023