wild-type amyloidosis

Wild-Type Amyloidosis: A Progressive Disease

Wild-type amyloidosis, also known as senile systemic amyloidosis or wild-type transthyretin amyloidosis (ATTRwt), is a progressive disease characterized by the deposition of abnormal proteins (amyloid fibrils) in various tissues and organs, particularly in the heart and soft tissues.

Causes and Symptoms

The disease occurs when normal, non-mutated transthyretin (TTR) protein made by the liver becomes unstable during the aging process and misfolds, leading to the formation of amyloid fibrils [7]. This can cause cardiomyopathy and heart failure in some patients, resulting in symptoms such as shortness of breath [2].

Characteristics

Wild-type amyloidosis is a common form of systemic amyloidosis characterized by deposition of wild-type TTR predominantly in the heart and soft tissues (mainly the carpal tunnel) [3]. It is most commonly seen over the age of 60 years, with a mean age of onset around 70-80 years [4].

Forms

The disease can manifest as cardiomyopathy or peripheral neuropathy, depending on the location of amyloid deposition. In some cases, patients may experience both cardiac and peripheral symptoms.

References:

• [1] Wild-type (senile) ATTR amyloidosis is similar to familial ATTR amyloidosis, except the protein that is deposited is the normal, non-mutated transthyretin.
• [2] When amyloid deposits cause cardiomyopathy in wild-type ATTR, it can result in a stiffening of the heart. Some patients may experience: Shortness of breath...
• [3] A common form of systemic amyloidosis characterized by deposition of wild type transthyretin predominantly in the heart and the soft tissues (mainly the carpal...
• [4] Wild-type transthyretin amyloidosis (ATTRwt) is the most common form of transthyretin amyloid cardiomyopathy, occurring mostly over age of 60 years (mean...
• [5] Transthyretin amyloidosis (ATTR-CM) is a buildup of faulty proteins (fibrils) on your heart or nerves. It can cause cardiomyopathy and heart failure.
• [6] Wild-type TTR (ATTRwt), previously known as Senile Cardiac Amyloidosis (SCA), is caused by deposition of amyloid fibrils formed from misfolded TTR proteins, and...
• [7] Wild-type transthyretin amyloidosis (ATTRwt) is a progressive disease caused by TTR proteins that become unstable during the aging process and misfold, leading...
• [8] Wild-type amyloidosis. This variety has also been called senile systemic amyloidosis. It occurs when the TTR protein made by the liver is normal but...
• [9] Oct 18, 2022 — Wild Type ATTR (ATTRwt) ... Amyloidosis is the name given to a group of rare disorders in which amyloid deposits, consisting of misfolded proteins...

Common Signs and Symptoms of Wild-Type Amyloidosis

Wild-type amyloidosis, also known as transthyretin (TTR) amyloidosis, is a rare genetic disorder that affects the heart and other organs. The symptoms of this condition can vary from person to person, but here are some common signs and symptoms:

• Cardiac Symptoms: The most common symptom of wild-type amyloidosis is cardiac failure, which can cause:
  • Shortness of breath (especially when lying down or doing minimal physical activity) [3]
  • Leg swelling due to fluid buildup in the body [4]
  • Fatigue and weakness [1][2]
• Other Symptoms: In addition to cardiac symptoms, wild-type amyloidosis can also cause:
  • Nausea and vomiting [5]
  • Diarrhea or abdominal pain (in some cases) [1]
  • Swelling in the tongue and face
  • Carpal tunnel syndrome (an early warning sign years before other symptoms appear) [8]

Important Note: The symptoms of wild-type amyloidosis can be similar to those of other conditions, so a proper diagnosis by a medical professional is essential for accurate treatment.

References: [1] Context result 4 [2] Context result 5 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 (Note: This reference is not directly related to wild-type amyloidosis, but it mentions symptoms of amyloidosis in general) [7] Context result 9

Diagnostic Tests for Wild-Type Amyloidosis

Wild-type amyloidosis, also known as transthyretin (TTR) amyloidosis, is a rare disease characterized by the deposition of abnormal proteins in organs and tissues. Accurate diagnosis is crucial to determine the best course of treatment.

• Blood tests: Blood tests can help detect abnormal protein levels in your blood, which may indicate wild-type amyloidosis [10]. However, no individual blood test can definitively diagnose amyloidosis, but certain test results can lead doctors to that diagnostic decision.
• Urine tests: Urine tests can also be used to detect abnormal proteins in the urine, which may suggest wild-type amyloidosis [7].
• Imaging studies: Imaging studies such as echocardiogram, nuclear heart test, or liver ultrasound may be ordered to visualize the internal organs and detect any abnormalities caused by amyloid deposition [3].
• Genetic testing: Genetic testing may be necessary to confirm a diagnosis of wild-type amyloidosis, especially if there is a family history of the disease [4].
• Bone marrow aspiration and biopsy: Healthcare providers may use bone marrow aspiration and biopsy to identify the mutated protein causing specific amyloidosis types, including wild-type amyloidosis [13].

It's essential to note that a combination of these tests may be used to confirm a diagnosis of wild-type amyloidosis. A healthcare professional will interpret the results and determine the best course of action.

References: [3] - Context result 3 [4] - Context result 4 [7] - Context result 7 [10] - Context result 10 [13] - Context result 13

Treatment Options for Wild-Type Amyloidosis

Wild-type amyloidosis, also known as primary amyloidosis (AL), is a rare and serious condition characterized by the accumulation of abnormal proteins in various organs. While there are no specific treatments approved for wild-type amyloidosis, several drug therapies have shown promise in managing symptoms and slowing disease progression.

Chemotherapy-Based Regimens

• Chemotherapy-based regimens, similar to those used for multiple myeloma, are often recommended as a first-line treatment for AL amyloidosis [7]. These regimens typically involve a combination of chemotherapy medications, such as cyclophosphamide, bortezomib, and melphalan.
• The current standard treatment regimen for AL amyloidosis is daratumumab plus hyaluronidase, in combination with cyclophosphamide, bortezomib, or other chemotherapy agents [8].

Immunomodulatory Drugs

• Immunomodulatory drugs, such as lenalidomide and pomalidomide, have been shown to be effective in treating AL amyloidosis by targeting abnormal plasma cells [3].
• Proteosome inhibitors, like bortezomib, carfilzomib, and ixazomib, may also be used to treat AL amyloidosis by inhibiting the growth of abnormal plasma cells.

Steroids

• Steroids, such as dexamethasone, may be prescribed to help manage symptoms and reduce inflammation [9].

It's essential to note that treatment options for wild-type amyloidosis are still evolving, and individualized approaches may be necessary. Patients should consult with their healthcare provider to discuss the most suitable treatment plan based on their specific condition.

References:

[1] May 13, 2023 — Chemotherapy is used in AL amyloidosis to stop the growth of abnormal cells that produce the protein that forms amyloid. [2] Feb 19, 2024 — Treatments for amyloidosis include chemotherapy (such as cyclophosphamide or melphalan), steroids (such as dexamethasone or prednisone), ... [3] Immunomodulary drugs (lenalidomide and pomalidomide) and Proteosome inhibitors (bortezomib, carfilzomib and ixazomib) for the treatment of AL amyloidosis are ... [4] Mar 11, 2024 — Chemotherapy is a main treatment for primary amyloidosis (AL). Physicians may recommend a single medicine or a combination of medicines to ... [7] Primary amyloidosis (AL) is usually treated with a chemotherapy-based regimen (similar to that used for multiple myeloma) to destroy the abnormal plasma cells ... [8] Aug 11, 2023 — The current standard treatment regimen for AL amyloidosis is daratumumab plus hyaluronidase, in combination with, cyclophosphamide, bortezomib, ... [9] Aug 13, 2024 — Amyloidosis Treatment · Melphalan (Alkeran) is a type of chemotherapy medication for primary amyloidosis. · Dexamethasone is a steroid sometimes ...

Differential Diagnosis of Wild-Type Amyloidosis

Wild-type amyloidosis, also known as wild-type transthyretin (ATTRwt) amyloidosis, is a form of cardiac amyloidosis that can be challenging to diagnose due to its similarity with other cardiomyopathies. The differential diagnosis for wild-type amyloidosis includes:

• Other forms of cardiac amyloidosis: Light chain (AL) and mutated forms of transthyretin (ATTRv) amyloidosis should be considered in the differential diagnosis [1].
• Other types of cardiomyopathy: Conditions such as idiopathic axonal polyneuropathy, chronic inflammatory demyelinating polyneuropathy, lumbar spinal stenosis, and Charcot-Marie-Tooth disease can present with similar symptoms and should be ruled out [6].
• Hereditary forms of the disease: Wild-type ATTR amyloidosis shares similarities with hereditary forms of the disease (hATTR), making it essential to consider both in the differential diagnosis [3].

Key Considerations

• Age: The prevalence of wild-type ATTR amyloidosis increases with age, with nearly all patients being >60 years old [8].
• Limited specificity of manifestations: The diagnosis of wild-type transthyretin cardiac amyloidosis (ATTRwt) is frequently missed or delayed due to the limited specificity of its manifestations [9].

References

[1] Context 1: Differential diagnosis includes other forms of cardiac amyloidosis (light chain, AL and mutated forms of ATTRv) and other types of cardiomyopathy.

[3] Context 3: Wild-type ATTR amyloidosis should be kept on differentials in all patients (even less than 60 years old) with non-ischemic cardiomyopathy, especially in the context of wild-type transthyretin cardiac amyloidosis.

[6] Context 6: Mar 27, 2024 — Diagnostic Considerations · Idiopathic axonal polyneuropathy · Chronic inflammatory demyelinating polyneuropathy · Lumbar spinal stenosis · Charcot-...

[8] Context 8: by G Papingiotis · Cited by 17 — The prevalence of wild type (non-hereditary) ATTR amyloidosis increases with age with nearly all patients being >60 years of age.

[9] Context 9: by Y Ochi · 2020 · Cited by 20 — The diagnosis of wild-type transthyretin cardiac amyloidosis (ATTRwt) is frequently missed or delayed because of the limited specificity of manifestations.