The path of patients to diagnosis
  • O caminho dos doentes até ao diagnóstico
For people with amyloidosis, the path to a rigorous diagnosis is often long since the symptoms can be confused with those of other more common diseases: it all depends on several factors, such as the existence of a family history, as well as the type and severity of the Symptoms.
One of the reasons for the delay in diagnosis is that the first symptoms do not trigger in people the need to go to the doctor immediately. Sensory symptoms such as tingling or loss of sensation in the feet or extremities of the legs are the ones that occur most frequently, occurring in about 50% of people who develop Paramyloidosis.
These patients are usually referred to a neurologist. Other symptoms, such as alternating bouts of constipation and diarrhea, or erectile dysfunction, are less often the first reported problems, but when they occur they can cause patients to see a gastroenterologist (with suspected irritable bowel syndrome, for example) or a Urologist. Because of its rarity, Paramyloidosis is often not considered by doctors as a possible diagnosis.
As a result, people often go through multiple assessments and sometimes through painful tests looking for a range of possible and more common diagnoses that can lead to potentially inappropriate treatment. Delayed diagnosis is generally lower in regions where the disease is less rare (where there are families and communities already familiar with the disease) where people and doctors are more likely to be more knowledgeable about the disease.
Performing a genetic test on relatives of people diagnosed with Paramyloidosis may be a relevant factor in identifying patients with the Paramyloidosis gene.
These people can then be regularly monitored by specialist physicians and, if the symptoms arise, it is possible to make an early diagnosis and implement an adequate care plan early.
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