Amyloidosis

"It is essential to correctly identify the type of protein that is being deposited as amyloid material, since the treatment differs depending on it".

DR. RAMÓN LECUMBERRI VILLAMEDIANA
CODIRECTOR. HAEMATOLOGY AND HAEMOTHERAPY DEPARTMENT

The amyloidoses are a heterogeneous group of diseases that consist in the pathological deposit of an own protein with an abnormal folding in different organs and systems (heart, kidneys, liver, nervous system...), altering its operation.

There are many proteins that can cause amyloidosis, although the most frequent forms of this disease are amyloidosis AL (by light chains, or primary) and amyloidosis AA (or secondary), followed at a great distance by other hereditary variants (by transthyrretin, apolipoprotein, etc.).

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What are the symptoms of amyloidosis?

The symptoms are non-specific and, although they are determined by the loss of function of the affected organ, they often remain masked by the disease that determines its appearance. At the beginning of the picture, since renal affectation is the most frequent, the appearance of slight proteinuria can be the only clinical manifestation.

Cardiac affectation is frequent and can present in the form of cardiomegaly, heart failure, the appearance of arrhythmias and, less frequently, ischemic heart disease. At the level of the digestive system, amyloid deposits can produce alterations in intestinal motility.

When there is hepatic affectation an asymptomatic hepatomegaly is produced. Sometimes portal hypertension with esophageal varices and ascites may occur. Up to 20% of patients may appear skin lesions, mainly purple lesions by infiltration of the vessels, usually periorbital.

What are the most common symptoms?

  • Mild Proteinuria
  • Cardiomegalia
  • Heart failure
  • Alterations in intestinal motility

Do you have any of these symptoms?

You may have amyloidosis

What are the causes of amyloidosis?

The causes of amyloid production and its deposit in tissues are unknown. 

Types:

  • Primary amyloidosis, when the cause of amyloid production is not known. It is related to abnormal antibody production by a type of immune cell called plasma cells.
  • Secondary amyloidosis, when there is a relationship with a chronic inflammatory process resulting from diseases of long evolution, such as chronic infections (bronchiectasis, tuberculosis, chronic osteomyelitis...) and rheumatic diseases (rheumatoid arthritis, ankylosing spondylitis...).

What is the prognosis of amyloidosis?

The disease is progressive and, although largely related to the underlying disease, the prognosis is poor. Exceptionally, remission can be achieved and only in cases of infections or tumors that can be removed or cured, since the usual is the unfavorable evolution.

The average survival ranges from 1 to 4 years, the main causes of death being renal failure, infections and cardiac involvement due to arrhythmias and heart failure.

How is amyloidosis diagnosed?

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The diagnosis of amyloidosis is complex due to the great variability and low specificity of the symptoms and signs that they cause.

After clinical and analytical suspicion, the diagnosis can only be confirmed by performing a biopsy and then staining it with Congo red, observing under the microscope the characteristic green birefringence of the amyloid.

The locations with the highest diagnostic yield for biopsy are the fat of the abdominal panicle and the rectal mucosa. Other useful sites for biopsy are the gums, skin, nerves, kidney and liver.

How is amyloidosis treated?

Our Amyloidosis Unit specializes in the treatment of this disease

The treatment of amyloidosis is exclusively symptomatic, so it must be specially directed towards the underlying cause since this is the only option to be able to modify the course of the amyloidosis.

When no underlying cause is known, as in primary amyloidosis, treatment is currently based on the administration of treatment cycles with prednisone and melphalan or prednisone with melphalan and colchicine. Likewise, the treatment includes those of the visceral affectation produced as renal and cardiac insufficiency, etc.

We have the latest pharmacological therapeutic advances available for the treatment of these processes, participating in new therapeutic protocols and clinical trials, as well as extensive experience in carrying out transplants of both bone marrow and a solid organ, which may form part of the therapeutic strategy in some cases.

In the Amyloidosis Unit of the Clinica Universidad de Navarra, specialists in Cardiology, Hematology, Internal Medicine, Nephrology and Neurology work as a team, offering the patient with amyloidosis a comprehensive and individualized treatment, according to his/her needs.

Where do we treat it?

IN NAVARRE AND MADRID

OUR MEDICAL TEAM

Hematology and Hemotherapy Service Specialists

The Hematology Service of the Clinic, formed by specialists of recognized national and international prestige, has integrated molecular diagnostic techniques and the use of new personalized treatments in its assistance work, allowing a more precise and fast diagnosis of the hematological diseases.

The joint work of the medical staff and the researcher facilitates the development and application of the new treatments and at the same time the precise evaluation of the result of the treatments.

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Why at the Clinica?

  • Experts in the development of Cellular Therapy treatments.
  • International reference center in lymphomas, multiple myeloma and monoclonal gammopathies.
  • Experts in the diagnosis and treatment of hemorrhagic and thrombotic problems.

Our team of professionals

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