Amyloidosis rare disease with multifaceted clinical picture

Amyloidosis – a rare disease with a multifaceted clinical pictureThe umbrella term amyloidosis covers various diseases that are associated with Deposits of tiny protein filaments, the so-called protein fibrils, throughout the body. The body is unable to dissolve or break down these amyloids, so that severe damage to various organs can occur in the course of the disease. In particularly severe cases, not only individual organs, but all organ systems are affected by the disease.

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Amyloidosis rare disease with versatile clinical picture

Amyloidosis rare disease with a multifaceted clinical picture

Amyloidosis cases in Germany

3.036 cases in 2019
3.121 cases in 2022 ( Prognosis )

Such a Systemic amyloidosis however, occurs extremely rarely. Only one in 100.000 new cases of systemic amyloidosis per year. The patients are usually older than 65 years. Mild forms of amyloidosis are more common, but with a lower incidence 800 new cases per year in Germany But still very rare.

The causes of amyloidosis

Three main forms of the disease are distinguished. The Light chain (AL) amyloidosis arises as a result of diseases of the bone marrow. Here it comes to a proliferation of plasma cells, responsible for the production of antibodies. In addition to the intact antibodies, structurally altered free light chains also always enter the blood. The body then deposits this in the organ structures. Often the proliferation of plasma cells is based on a tumor of the lymphatic tie. AL amyloidosis is therefore particularly common in multiple myeloma and Waldenstrom's disease. Both diseases are Malignant blood diseases.

Amyloidosis rare disease with a multifaceted clinical picture

The AA amyloidosis on the other hand is caused by chronic inflammatory diseases caused. The trigger in this case is the acute phase protein, which is produced more frequently in chronic infections such as tuberculosis or leprosy. Chronic inflammatory bowel diseases such as Crohn's disease or ulcerative colitis as well as rheumatic diseases can also trigger AA amyloidosis. Changes in the genetic material as well as mutations can cause a Cause hereditary or familial amyloidosis. It occurs frequently in combination with other inherited diseases such as familial Mediterranean fever. The protein filaments can further accumulate in the kidney. There lead to functional disorders. The result is Nephrotic syndrome with protein loss via the kidney. This leads to water retention in the body and, in the case of loss of immunoglobulins, which are responsible for defense, also to increased infections. The amyloidosis of the gastrointestinal tract is mainly characterized by Diarrhea, bleeding or intestinal obstruction noticeable with severe pain. The liver is enlarged. Feels rock hard when palpated.

The brain and nerves can also be affected by the disease. This results in functional disorders of all kinds, which are similar in their effects to the Dementia resemble. The protein threads can also cause damage to the peripheral nerves, i.e. the nerves that lie outside the spinal cord and brain. Typical symptoms here are sensitivity and movement disorders. Carpal tunnel syndrome, nodular changes in the skin, hair loss, red circles under the eyes or hoarseness, on the other hand, are more indicative of amyloidosis Infestation of soft ties towards. In rare cases, amyloidosis causes Disorders of the endocrine system which manifest themselves as thyroid disorders or hypofunction of the adrenal glands. The symptoms of amyloidosis are often unspecific. Can also occur in other diseases. For this reason, the diagnosis is often only made at an advanced stage of the disease. However, amyloidosis is always suspected when patients have cardiomyopathy, nerve dysfunction, or liver enlargement of unclear cause. Similarly, patients with multiple myeloma always consider amyloidosis as a possible concomitant disease.

In order to make a reliable diagnosis, the physician must Tie sample from an affected organ remove and examine in the laboratory. Here you can see the exact composition of the protein filaments, which must be known for a successful treatment. In the case of generalized amyloidosis, the collection can also be performed gently from the subcutaneous fatty tie. If the amyloidosis is confirmed by these examination procedures, a test is performed to determine the extent of the amyloidosis Bone marrow aspiration search for causative diseases.

The extent of the filamentous deposits is determined by a Scintigraphy. Patients are given radioactively labeled substances that bind to the protein filaments so that they become visible in the imaging process. However, the diagnosis is often difficult, so that the diagnosis of amyloidosis can often only be made after death at autopsy.

The therapy of amyloidosis

The majority of amyloidoses are treatable today. The therapy depends on the form of the disease. Thus, the uncontrolled proliferation of plasma cells can be prevented by a high-dose chemotherapy with subsequent stem cell transplantation usually contain.

Patients with Mediterranean fever can prevent the development of amyloidosis by taking the substance Colchicine counteract. In addition, the organ damage is various general measures and medications treated. people with heart disease receive ACE inhibitors. Diuretics to lower blood prere. In the case of kidney involvement, a low-salt diet may be advisable.

Amyloidosis – the prognosis

Whether and how well amyloidosis can be treated depends on the form of the disease and on the age of the patient. The presence of multiple myeloma or heart disease significantly worsens the prognosis, whereas mild forms of the disease are often associated with only a slightly reduced life expectancy.

Amyloidosis rare disease with a multifaceted clinical picture

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