RARE DISEASE HONG KONG

捐助支持
加入本會
登記做義工

About Rare DiseasesRare Disease Wiki

Amyloid light-chain (AL) Amyloidosis

Name of disease:

Amyloid light-chain (AL) Amyloidosis

ICD-10 diagnosis code:

E85.81

Causes:

Amyloidosis is when an abnormal protein called amyloid builds up in your tissues and organs. When it does, it affects their shape and how they work. Amyloidosis is a serious health problem that can lead to life-threatening organ failure.

Pattern of inheritance:

AL amyloidosis is not contagious, and is not considered to be hereditary.

Prevalence:

AL Amyloidosis represents the most common type of systemic amyloidosis in western countries. Prevalence between 1:17,000-50,000
About two-thirds of the patients are male.
AL may occasionally be associated with myeloma, because like AL amyloidosis, multiple myeloma affects the plasma cells inside the bone marrow.

Diagnosis:

Diagnostic testing for AL amyloidosis involves blood tests, urine tests , biopsies, echocardiogram and imaging.

Blood tests: level of alkaline phosphatase (ALP), free light chains, and N-terminal pro-brain natriuretic peptide (NT-proBNP)
24-hour urine test: proteinuria, free light chain proteinuria, glomerular filtration rate
Tissue or organ biopsy is stained with a dye called “Congo-red stain" and sent for microscopic examination
Echocardiogram (ECG) and Magnetic resonance imaging (MRI) maybe performed for patients with heart involvement
Amyloid typing can be achieved by mass spectrometry

Age of onset:

It usually affects people from ages 50-80, average age of diagnosed patients is 63 years.

Common signs and symptoms:

The symptoms of AL Amyloidosis depend on where amyloid has deposited. Symptoms might include:

Diarrhea or constipation
Enlarged tongue
Unexplained severe fatigue
Pain, numbness or tingling in the hands, feet or joints
Repeat infections
Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
Trouble swallowing
Weight loss for no apparent reason

In addition, if AL amyloidosis affects the heart, you might experience:

Chest pain
Irregular heartbeat
Shortness of breath
Swollen legs, ankles and feet

Available treatments (medicinal and non-medicinal):

Treatment for AL amyloidosis is aimed at reducing the level of abnormal plasma cells to eliminate the production of abnormal light chains and improving organ function.

Several factors such as age, general health and extent of organ damage are taken into account, but usually a combination of different types of drug are given. Many of the treatment options include products typically used to treat multiple myeloma, e.g. :

Autologous blood stem cell transplant (ASCT)
Chemotherapy
Steroid
Proteasome inhibitor
Immunomodulatory drug
Monoclonal Antibodies

Disease management tips:

There are multiple ways for patients to ease the symptoms and improve well-being with natural and complementary therapies.

Exercise
Meditation and deep breathing exercises before bedtime
Eat healthily and lower your salt intake
Maintain a balance of fluid intake

References:

https://www.webmd.com/cancer/lymphoma/amyloidosis-symptoms-causes-treatments#1
https://amyloidosis.org/facts/al#faq
https://www.orpha.net/en/disease/detail/85443
https://arci.org/about-amyloidosis/al-amyloidosis/
https://www.healthline.com/health/amyloidosis/natural-therapies-for-amyloidosis#1.-Movement

Other useful websites:

The Amyloidosis Alliance

https://www.amyloidosisalliance.org/

Myeloma Patients Europe

https://www.mpeurope.org/about-al-amyloidosis/

This page is contributed by Johnson & Johnson.