Amyloidosis: An Insight into Its Impact and Management

Amyloidosis is a disease caused by the deposit of amyloid in different organs of the body, causing various alterations depending on the amount and the affected organ.

Amyloid is a protein with a fibrillar structure that is deposited in different organs, destroying normal tissues.

How does amyloidosis occur?

The causes of amyloidosis are unknown.

Amyloidoysis is classified into six large groups:

• Primary amyloidosis: Unrelated to other diseases, except multiple myeloma.
• Secondary amyloidosis: in relation to other diseases, especially rheumatological such as ankylosing spondylitis, rheumatoid arthritis, followed by infectious diseases, including tuberculosis, osteomyelitis or leprosy.
• Localized amyloidosis: Amyloid deposits exclusively in one organ (skin, lung, ..).
• Senile amyloidosis: In autopsies of patients where the deposit of amyloid is found in the central nervous system, heart, joints and pancreas without previous symptoms.
• Familial amyloidosis: There are different amyloid deposit associations that are genetically transmitted between some families.
• Amioidosis associated with hemodialysis: The disease production mechanisms are unknown in all cases.

Symptoms

It is related to the affected organs, regardless of the type of amyloidosis.

In localized forms, symptoms are limited exclusively to the affected organs, and in senile forms, the diagnosis is made at autopsy.

Amyloidosis (either primary to secondary) can be considered in a patient with symptoms of weight loss, tiredness, swelling of the feet (edema), shortness of breath, headache, tingling sensation (paresthesia), and voice changes .

The incidence is the same in both sexes. In the secondary forms, the mean age of diagnosis is lower than in the primary forms.

The kidney is the organ that is most affected (up to 90% of cases), which slowly and progressively becomes one of the most frequent causes of death.

At the level of the digestive system, amyloid deposition is also frequent but with few symptoms, among which macroglossia or large tongue stands out in up to 10% of cases.

Symptoms of arrhythmias and heart failure occur in the heart.

Purpura, a red-purplish palpable skin lesion, appears in 20% of patients. These lesions characteristically appear in the area around the eyes.

Diagnosis

The diagnosis is based on the demonstration of amyloid material by biopsy, which is usually obtained from subcutaneous abdominal fat or rectal tissue if there are no biopsyable skin lesions. In some cases, a bone marrow biopsy is performed, diagnosing the disease in 40%, or directly in the affected organ.

Laboratory results show anemia in 90% of patients and increased blood velocity.

Treatment

It consists of treating the underlying disease, if any, as there is currently no effective treatment.

In cases of kidney failure, hemodialysis and even kidney transplantation is indicated.

This is why it is a disease with an average survival prognosis of 1 to 4 years from diagnosis. Kidney failure, heart failure, arrhythmias, and infections are the most common causes of death.

Family and Community Medicine Specialist