symptoms

Amyloidosis symptoms

Related articles: Amyloidosis

Definition

Amyloidosis is a condition characterized by the accumulation, often in the extracellular area, of insoluble protein material (called amyloid).

Depending on the form of amyloidosis that affects the patient, amyloid deposits can accumulate locally, causing limited symptoms, or in a diffuse way, interfering with the structure and function of many organs.

The potential etiological factors vary according to the type of amyloidosis: it can be primitive or secondary to various infections and to inflammatory, genetic or neoplastic conditions.

Most common symptoms and signs *

  • Alve alterations
  • Anuria
  • Arrhythmia
  • Ascites
  • Asthenia
  • Dry mouth
  • Cardiomegaly
  • Diarrhea
  • Decreased sweating
  • Dysphagia
  • Dyspnoea
  • Edema
  • Hepatomegaly
  • Tingling in the legs
  • Bone fractures
  • Joint swelling
  • Goiter
  • hypohidrosis
  • Orthostatic hypotension
  • Jaundice
  • Inflated tongue
  • macroglossia
  • Backache
  • Solitary pulmonary nodule
  • Black eye
  • Paresthesia
  • Weight loss
  • Polyuria
  • Proteinuria
  • Foam in urine
  • Nephrotic syndrome
  • splenomegaly
  • Constipation
  • Sweating
  • Uremia
  • Articular Pouring
  • Pericardial effusion
  • Dizziness

Further indications

The symptoms and the severity of the disease depend on the type of amyloidosis and on the organ mainly affected by the accumulation of amyloid. For example, if this is deposited in the kidneys, they can cause chronic kidney failure, while the involvement of the heart compromises the ability to supply adequate blood to the whole organism, eventually leading to heart failure. Hepatic involvement causes hepatomegaly. Occasionally there is portal hypertension, consequently esophageal varices and ascites.

Amyloidosis can potentially cause the following symptoms: weakness, significant weight loss, fluid retention with edema (a consequence of heart failure or nephrotic syndrome), abnormal heart rhythms (arrhythmias), dizziness, shortness of breath, finger paraesthesia of the hands and feet, alteration of sweating. Macroglossia (volumetric growth of the tongue), disorders of gastrointestinal motility, poor absorption of nutrients and intestinal obstruction may also occur. Rheumatological symptoms include carpal tunnel syndrome and chronic shoulder, wrist and finger pain. Pathological fractures, particularly of the humerus and femur, and skin lesions, such as purpura and ecchymoses, may occur. Thyroid amyloidosis, on the other hand, can give rise to a goiter. Systemic forms of amyloidosis can cause severe multi-organ failure.

Diagnosis is defined by biopsy, examining a small sample of the affected tissue under a microscope. The therapy changes according to the type of amyloidosis. In general, the treatments available help to manage the symptoms, as well as limiting the production of amyloid.