Symptoms and Signs of AL Amyloidosis

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In AL amyloidosis, amyloid deposits may affect any part of the body except for the brain. Usually one or two organs are predominantly affected (known as the “dominant” organs). The structure and properties of the abnormal light chain proteins forming the amyloid fibrils are slightly different in every single AL amyloidosis patient and symptoms also vary widely, depending on which organs contain amyloid deposits and the extent to which the deposits affect organ function. The precise way in which deposition of amyloid causes disease is not fully understood.  There may be poor correlation between the amount of local amyloid and the extent to which organ function is lost. Although heavy amyloid load is invariably a bad sign, active deposition of new amyloid is often more closely linked to worsening disease than are stable, longstanding deposits.

AL Amyloidosis Symptoms

Patients with AL amyloidosis may complain of general problems such as weight loss, fatigue, weakness, loss of appetite and easy bruising. They may also develop:

Kidney disease (>90%): kidney size is usually normal, but may be enlarged or, in advanced cases, reduced. Kidney problems seen in AL amyloidosis include:

kidney disease

Position of the kidneys shown in red

  • proteinuria (protein in the urine)
  • nephrotic syndrome:
    1. large amounts of protein in the urine (>3.5g/day)
    2. low albumin in the blood
    3. peripheral oedema- swollen ankles
  • end stage kidney failure: The kidneys stop functioning altogether and the patient needs either dialysis or a kidney transplant in order to survive.

rarely:

  • haematuria (blood in the urine)
  • renal tubular defects
  • nephrogenic diabetes insipidus
  • renal calcification

 

Heart disease (90%): In addition to the physical damage caused to the heart structure and function by amyloid deposits, the amyloidogenic light chains may themselves be toxic to the heart muscle cells.

Normal position of the heart highlighted in red

Position of the heart shown in red

Heart problems seen in AL amyloidosis include restrictive cardiomyopathy in 30%. this means that the heart muscle is stiffened by amyloid deposits, so the heart cannot pump blood efficiently. This may lead to:

  • shortness of breath even on minor exertion.
  • arrhythmias (heart rhythm abnormalities) due to amyloid deposits affecting the electrical conducting system in the heart.
  • angina (heart pain on exercise or at rest).
  • fainting, sometimes on exertion, sometimes after eating.

For further information on amyloidosis and the heart, go to the section of the website on cardiac amyloidosis

Nervous system disease (neuropathy): amyloid deposits can affect the nerves controlling sensations and numerous bodily functions:

brain and nervous system highlighted in purple, showing how nerves are found throughout the entire body

Brain and nervous system shown in purple, illustrating how nerves are found throughout the entire body

1. Peripheral neuropathy:

  • In 10-20% of patients there is loss of pain and temperature sensation in the hands, feet and lower legs at first, and movement problems at a later stage.
  • In 20% of patients there is carpal tunnel syndrome, with wrist and hand pain and tingling.

2. Autonomic neuropathy:

  • Orthostatic hypotension: fainting and near-fainting on standing or sitting up due to blood pressure drop.
  • Impotence
  • Gut problems such as diarrhoea, constipation and early satiety (feeling full after eating a small amount).

Gut disease: Other than gut problems caused by autonomic neuropathy there may be:

Position of the digestive system highlighted in red

Position of the digestive system shown in red

 

      • diarrhoea
      • constipation
      • weight loss due to poor absorption of nutrients from food (malabsorption)
      • rectal bleeding

 

 

 

 

 

Spleen and liver disease:

  • enlarged spleen or problems with spleen function (hyposplenism)
  • enlarged liver or liver failure
Position of the spleen

Position of the spleen shown in green

Position of the liver shown in red

Position of the liver shown in red

 

 

 

 

 

 

 

 

Skin disease:

  • easy bruising
  • lesions on face, upper trunk and sometimes limbs-lumps, papules, nodules, and plaques
Skin rash in AL amyloidosis

Skin rash in AL amyloidosis

 There may be nail changes.

Nail changes in AL amyloidosis

Nail changes in AL amyloidosis

Joint disease (rare), may:

  • be similar to rheumatoid arthritis affecting many joints (polyarticular)
  • affect single joints such as hip or shoulder

Additional AL amyloidosis signs

About 8% of patients with AL amyloidosis suffer from carpal tunnel syndrome – tingling and pain in the wrists, pins and needles in the hands.  

In medical terminology, a finding is said to be pathognomonic of a disease if it occurs only in the presence of that disease. The following signs occur rarely (in less than 15% of patients with AL amyloidosis) but when present they are pathognomonic of AL amyloidosis, meaning that this is very likely to be the diagnosis:

1. macroglossia – enlarged tongue

Macroglossia - enlarged tongue, sometimes with bite marks in AL amyloidosis

Macroglossia – enlarged tongue, sometimes with bite marks

2. shoulder pad sign

swelling of shoulders due to amyloid deposits in the soft tissue around them

Shoulder pad sign – swelling of both shoulders due to amyloid deposits in the soft tissue around the shoulders.

3. bruising of the skin around the eyes: “raccoon eyes”or “panda eyes”

raccoon eyes a sign of AL amyloidosis

Raccoon eyes

Click here to see Dr Helen Lachmann, consultant nephrologist at the NAC, talking about organ involvement in AL amyloidosis.

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