The impact of amyloidosis on human health.

 The impact of amyloidosis on human health.

Describe amyloidosis.

A protein called amyloid accumulates in the body and damages different organs in a rare condition known as amyloidosis. These amyloids accumulate in multiple body organs.  It may cause the organs to malfunction. The heart, kidneys, liver, spleen, neurological system, and digestive tract are among the organs that could be impacted.

Certain forms of amyloidosis coexist with other illnesses. When the other diseases are treated, these kinds might become better. Life-threatening organ failure can result from some forms of amyloidosis.

amyloidosis

Amyloidosis may affect organs


Let’s explore the different types of amyloidosis and their underlying causes:

What causes amyloidosis?

Immunoglobulin Light Chain Amyloidosis, or AL Amyloidosis:

  • This type, also known as primary amyloidosis, involves abnormal plasma cells in the bone marrow producing monoclonal immunoglobulin light chains.
  • Cause: It occurs when there’s an abnormal production of antibodies (immunoglobulins) from the bone marrow. These antibodies cannot be broken down properly, leading to their deposition in tissues and organs.
  • AL amyloidosis is sometimes linked to multiple myeloma, a type of bone marrow cancer.
  • Biochemical Nature: The amyloid fibrils are made up of these light chain proteins (kappa or lambda).
  • Symptoms: AL amyloidosis can affect any organ—heart failure, kidney issues, neuropathy, and even an enlarged tongue.

AA Amyloidosis (Amyloid A Protein):

  • Cause: Prolonged inflammation is the main factor linked to AA amyloidosis. It can develop due to diseases like rheumatoid arthritis, Crohn’s disease, ulcerative colitis, or infectious diseases such as tuberculosis (TB).
  • Mechanism: A particular protein (serum amyloid A) is produced in response to inflammatory processes, and this protein subsequently forms amyloid deposits in different organs.
  • Elevate an acute phase protein called SAA, which then deposits as amyloid fibrils.
  • Affected Organs: Usually starts in the kidneys but can impact other organs.
  • Management: Treating the underlying infection or inflammatory disease can slow down or halt its progression.

ATTR Amyloidosis (Transthyretin-Related Amyloidosis):

  • Genetic Twist: ATTR amyloidosis is often inherited. It’s caused by mutations in the transthyretin (TTR) gene.
  • Protein: Abnormal TTR proteins deposit as amyloid fibrils.
  • Symptoms: Typically involves neuropathy and cardiomyopathy, showing up in mid to late life.

Hereditary ATTR Amyloidosis (Transthyretin-Related Amyloidosis):

  • Cause: This type of amyloidosis is inherited genetically. Mutations in the transthyretin (TTR) gene lead to unstable TTR proteins that are more likely to form amyloid fibrils.

Age-Related Variant (Wild-Type ATTR): 

  • Wild-type ATTR amyloidosis typically develops as individuals age, often affecting men over 75 years old. Various mutations cause this type.

Wild-Type ATTR (ATTRwt)

Unmutated TTR protein often causes cardiomyopathy in older men.

Beta-2 Microglobulin Amyloidosis:

  • Cause: Beta-2 microglobulin amyloidosis occurs in people who undergo long-term dialysis. Proteins in the blood accumulate and deposit in joints and tendons.

Risk Factors:

  • Age: Amyloidosis is commonly diagnosed among people aged 60 to 70 years.
  • Gender: It’s more prevalent in men.
  • Chronic Inflammatory or Infectious Diseases: Conditions like rheumatoid arthritis, Crohn’s disease, and chronic infections increase the risk.

What are the symptoms of amyloidosis?

Common Symptoms of Amyloidosis:

  • Feeling very tired or weak: Amyloid deposits can affect overall energy levels.
  • Unintentional weight loss: If you’re losing weight without trying, it could be a sign.
  • Shortness of breath: Amyloidosis can impact lung function.
  • Swollen feet or legs: Fluid buildup due to impaired organ function.
  • Bruising around your eyes: Sometimes called “raccoon eyes,” this occurs due to fragile blood vessels.

Organ-Specific Symptoms:

  • Heart Involvement: Irregular heartbeat (arrhythmia) or chest pain.
  • Digestive System Involvement: Loss of appetite, nausea, vomiting, diarrhea, or constipation.
  • Kidney Involvement: Frothy urine (due to protein leakage).
  • Nerve Involvement: Pain, numbness, or tingling in the hands and feet.

Other Possible Symptoms:

  • Enlarged tongue.Thickening or purplish patches on the skin.

Diagnosis:

Diagnosing amyloidosis can be challenging because symptoms overlap with other conditions.

However, doctors typically use the following tests:

  • Blood and urine tests
  • Electrocardiogram (ECG), echocardiogram, or MRI scans to assess organ function
  • Biopsy (removing a small sample of tissue for amyloid testing)
  • SAP scan (to visualize amyloid deposits)
  • Genetic testing for hereditary forms.

Amyloidosis treatment

The video explains the current treatment.


The treatment options  
  • AL Amyloidosis (Immunoglobulin Light Chain Amyloidosis):
  • High-dose chemotherapy with stem cell transplant: This approach aims to remove the abnormal plasma cells that produce amyloid. An autologous blood stem cell transplant (ASCT) may be performed.
  • Targeted Therapies: Medications like proteasome inhibitors (e.g., bortezomib) can help control the underlying plasma cell disorder.
AA Amyloidosis (Amyloid A Protein):
  • Control the Underlying Disorder: Since AA amyloidosis is associated with chronic inflammatory conditions (such as rheumatoid arthritis or Crohn’s disease), managing the underlying disease is crucial.
  • Steroids (Anti-Inflammatory Medications): These help reduce inflammation and prevent further amyloid deposition.
Also, read https://www.isaamyloidosis.org/.

Hereditary ATTR Amyloidosis (Transthyretin-Related Amyloidosis):
  • Liver Transplantation: In hereditary ATTR amyloidosis, the abnormal protein is produced in the liver. A liver transplant may be considered.
  • Tafamidis: This medication stabilizes transthyretin (TTR) and slows disease progression.
Wild-Type ATTR Amyloidosis:
  • Supportive Care: Managing symptoms and maintaining overall health are essential. Regular follow-ups with a healthcare provider are crucial.
Beta-2 Microglobulin Amyloidosis:
  • Dialysis Optimization: For individuals on long-term dialysis, optimizing dialysis procedures can help reduce amyloid deposition.

General Measures:

  • Balanced Diet: Eating nutritious meals supports overall well-being.
  • Limit Alcohol Intake: Excessive alcohol can worsen symptoms.
  • Exercise: Regular physical activity promotes better health.
  • Monitoring and Follow-Up:
  • Regular check-ups with specialists (such as oncologists or nephrologists) are essential.
  • Monitoring organ function and adjusting treatment as needed.
Amyloidosis is like a collection of proteins. They gather in hushed whispers, forming abnormal deposits called amyloid. These clandestine gatherings occur in various organs—heart, kidneys, liver, nerves, and even the digestive system. But there’s no cure for these protein squatters. Instead, we focus on managing their unruly behavior.

The Culprits:
AL Amyloidosis (Immunoglobulin Light Chain Amyloidosis):
Bone marrow is sometimes linked to multiple myeloma.

AA Amyloidosis (Secondary Amyloidosis):
Infectious diseases such as tuberculosis or chronic inflammation such as rheumatoid arthritis establish the foundation.

Hereditary ATTR Amyloidosis:
A genetic inheritance—like a family heirloom you didn’t want.

Wild-Type ATTR Amyloidosis:
Develops with age, often affecting older gentlemen.

Beta-2 Microglobulin Amyloidosis:
Reserved for dialysis patients—those long-term dialysis sessions lead to protein deposits.
Detective Work (Diagnosis):

Blood tests, urine tests, and heart scans—our investigative tools.
Biopsy: A tiny tissue sample reveals the amyloid’s secrets.
SAP scan: Unveils where the protein has spread.
Genetic testing: To check if it’s a family affair.

Treatment:

  • No cure, but we walk with symptoms:
  • Underlying Conditions: If amyloidosis is due to another health issue (like rheumatoid arthritis), treating that helps.
  • Specific Treatments: Varies by type—chemotherapy, medications, and sometimes organ or stem cell transplants.

What are the other treatment options for AL amyloidosis?

Let’s explore the treatment options for AL amyloidosis, which is a rare condition characterized by abnormal protein deposits (amyloid) affecting various organs. Managing AL amyloidosis 
involves a combination of approaches to improve quality of life, relieve symptoms, and sustain organ function.

Here are the key treatment strategies:

DaraCyBorD: (Daratumumab, Cyclophosphamide, Bortezomib, and Dexamethasone):
Recent Breakthrough: Up to 600 people each year in the UK now benefit from DaraCyBorD, the very first treatment approved for AL amyloidosis on the NHS. This approval followed a U-turn by the National Institute for Health and Care Excellence (NICE) after initially rejecting it.

Effectiveness: Clinical trials have shown that DaraCyBorD is effective, with patients being five times more likely to see their disease halted. Approximately 59% of patients who received DaraCyBorD had no sign of AL amyloidosis 20 months after treatment.

Components: DaraCyBorD combines daratumumab (Darzalex®) with cyclophosphamide, bortezomib (Velcade®), and dexamethasone. All four drugs are already individually available on the NHS.

Game-Changer: This treatment has the potential to significantly impact patients’ quality of life and remission times.

Supportive Therapy:

Diuretic Therapy: The mainstay of supportive treatment aims to manage fluid retention (edema) by using diuretics.

Symptom Relief: Supportive measures focus on improving symptoms and sustaining organ function while anti-plasma cell therapy takes effect.

Other Approaches:

Chemotherapy: Chemotherapy remains a crucial component of AL amyloidosis treatment. It aims to control the underlying plasma cell disorder responsible for amyloid production.

Stem Cell Transplant: Some patients may benefit from peripheral blood stem cell transplantation.

Organ Transplant: Depending on the affected organs, patients with various types of amyloidosis (including AL) may be considered for organ transplants (e.g., heart, liver, or kidney transplants).
.
Advocacy and Persistence:
The approval of DaraCyBorD is a significant achievement, but it highlights the importance of advocacy efforts. Patients, clinicians, and organizations like Myeloma UK played a crucial role in fighting for access to this life-extending treatment.
While celebrating this victory, we must also recognize that timely access to effective treatments remains essential for all patients, regardless of where they live.

Conclusion

Finding an amyloid treatment center with an experienced team and properly qualified specialists is crucial because amyloidosis is rare. This dangerous illness can become chronic or life-threatening. AL amyloidosis patients are living longer because of improved treatments. Ask your doctor about AL amyloidosis clinical trials and new treatment studies.



No comments:

Post a Comment