Symptoms & Diagnosis

Symptoms can vary among people with the condition, even within the same family, and may appear at different times for each person. People with wild-type amyloidosis may experience symptoms similar to those of hereditary amyloidosis.

There are multiple challenges to a speedy diagnosis, as more than one health specialty is involved. There is usually a constellation of symptoms which may mimic or overlap with other, more common, conditions. Some early symptoms are those which affect people as they get older, so are just put down to the ageing process.

Common symptoms

Peripheral nerve (polyneuropathy) symptoms

Our peripheral nervous system comprises nerves that branch from the brain and spinal cord into the arms and legs, and it’s these nerves that handle motor function or movement.

Polyneuropathy is damage or disease affecting peripheral nerves (peripheral neuropathy), in roughly the same areas on both sides of the body.

ATTR neuropathy develops when amyloid deposits cause the malfunction of peripheral nerves, affecting the nerves supplying sensation and movement to the body’s extremities, such as the hands, feet and arms.

Symptoms may involve:

  • Tingling
  • Numbness
  • Carpal tunnel syndrome
  • Burning pain
  • Loss of sensitivity to temperature
  • Weakness
  • Altered sensations
  • Stabbing
  • Pins and needles
  • Increased pain
  • Difficulty using
  • Sleep problems because of night-time pain

Autonomic nerve-related symptoms

The autonomic nervous system is a component of the peripheral nervous system. It regulates involuntary bodily processes, including heart rate, blood pressure, digestion, respiration and sexual arousal. Amyloid deposits can affect the autonomic nervous system and symptoms may involve:

  • Recurrent urinary tract infections and/or urinary retention
  • Excessive sweating
  • Dizziness or fainting upon standing (postural/orthostatic hypotension)
  • Sexual dysfunction
  • Nausea and vomiting
  • Diarrhoea and/or constipation, sometimes alternating.
  • Early satiety (feeling of fullness after eating little)
  • Unintentional weight loss
  • Indigestion (dyspepsia)
  • Difficulty swallowing

Heart related (cardiomyopathy) symptoms

A chronic disease of the heart known as cardiomyopathy is a common early presentation of ATTR amyloidosis. Amyloid deposits in the heart muscle may cause no symptoms at all if they are small. But when the deposits are large, they can lead to stiffening of the heart muscle. This restrictive cardiomyopathy means the heart cannot pump blood around the body as efficiently as usual. Symptoms may involve:

  • Fatigue
  • Muscle weakness
  • Dizziness
  • Collapse (syncope or fainting), which may occur after eating, or after exertion
  • Shortness of breath, even after mild exertion
  • Weight loss
  • Leg swelling (oedema)
  • Angina or chest pain
  • Palpitations and abnormal heart rhythms (most frequently atrial fibrillation)
  • Nausea
  • Disrupted sleep

Other varied symptoms

  • Glaucoma
  • Blurred or spotty vision
  • Abnormalities of the pupil or blood vessels in the white of the eye
  • Detached retina
  • Progressive dementia
  • Stroke-like episodes
  • Kidney dysfunction
  • Headache
  • Loss of movement control
  • Seizures
  • Weakness
  • Ocular Manifestations

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