About Amyloidosis

Amyloidosis is a rare and under diagnosed disease.

It is characterized by mutated proteins known as amyloidosis fibers, which can accumulate in different organs of the body such as the heart, kidneys, liver, intestines, and nervous system and cause organ dysfunctions. 

What is cardiac amyloidosis ?

Triggers rigidity in the heart structure :

The heart structure becomes thicker, causing the muscles to become less effective which can lead to eventual heart failure. Patients can also experience edema of the legs, breathlessness and acute edema of the lungs.

Can disrupt heart signals :

The amyloidosis can also interrupt the heart's electrical signals, leading to chronic discomfort and possible loss of consciousness.

Types of Amyloidosis.

AL Amyloidosis

Caused by myeloma or gammopathy

WT-TTR Amyloidosis

Age-related causes 

H-TTR Amyloidosis

Genetic causes 

AA Amyloidosis

Caused by chronic inflammation or diabetes

Other Amyloidosis

ApoA1, ApoA2, Fibrinogen

Symptoms.

  • Breathlessness
  • Leg Oedema
  • Constant Fatigue
  • Syncope
  • Arrythmea
  • Cardiac hypertrophy
  • Weight gain
  • Weight loss
  • Bruising of the eyelids and torso
  • Macroglossia
  • Hypotension Orthostatique
  • Dizziness
  • Tingling in finger and feet
  • Loss of sensitivity in hands and feet
  • Carpal tunnel syndrome
  • Loss of taste
  • Digestive problems
  • Nausea / Vomiting
  • Diarrhea
  • Deafness
  • Voice problems

Diagnostics tools.

  • Blood | Urine test : To measure biological markers and the presence of light chain.
  • Genetic testing | Blood test : To detect hereditary forms of amyloidosis.
  • Electrocardiogram : To measure the heart frequency and detect potential malfunctions caused by amyloidosis.
  • Electromyogram : to detect nerves dysfunction.
  • Transthoracic ultrasound : To evaluate the heart structure, rigidity, and health.
  • Cardiac MRI : Cardiac MRI : to detect abnormalities to the heart and measure the heart infiltration.
  • Bone Scintigraphy :to detect transthyretin in the heart.
  • Biopsy : to take a tissue sample or small sample of myocardia to show amyloidosis deposition.

Our goals.

  • Improve care and management
  • Improve patients' quality of life
  • Earlier and more effective diagnosis
  • Minimize the spread of amyloidosis

Healthcare European Amyloidosis Research Translation and strategy

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Healthcare European Amyloidosis Research Translation and strategy
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