amyloidosis

Amyloidosis is a rare disease that occurs when a protein called amyloid builds up in organs, making them not function properly [1]. This abnormal buildup can affect various parts of the body, including the heart, kidneys, liver, and skin [6].

The condition arises when proteins in the body change or mutate, turning into twisted clumps of misshapen proteins that gather on tissues and organs [3]. As a result, the normal function of these organs is altered, leading to various symptoms and complications.

Amyloidosis can be classified into different types, including primary amyloidosis, which occurs when an abnormal protein called light chain builds up in the body, and secondary amyloidosis, also known as AA amyloidosis, which is caused by fibrils made of acute phase reactant serum amyloid A protein [8].

Symptoms of amyloidosis can vary depending on the affected organs but may include fatigue, weight loss, weakness, and shortness of breath. In some cases, it can lead to organ failure if left untreated.

It's essential to note that amyloidosis is a rare condition, and its exact prevalence is not well-documented [9]. However, it's considered a serious disease that requires prompt medical attention.

References: [1] Context 1 [3] Context 3 [6] Context 6 [8] Context 8

Amyloidosis is a group of rare diseases characterized by the accumulation of abnormal proteins (amyloid) in various organs and tissues, leading to organ dysfunction and failure. The signs and symptoms of amyloidosis can vary depending on the affected organ or tissue, but common manifestations include:

• Fatigue and weakness: A feeling of tiredness or exhaustion that persists even after rest, which is a hallmark symptom of amyloidosis [1][2].
• Shortness of breath: Difficulty breathing due to amyloid deposits in the lungs or heart, leading to shortness of breath, especially when lying down or exerting oneself [3][4].
• Swollen legs and ankles: Fluid retention and swelling in the lower extremities due to amyloidosis affecting the kidneys or lymphatic system [5][6].
• Weight loss: Unintentional weight loss despite adequate nutrition, which can be a sign of amyloidosis affecting the digestive system or other organs [7].
• Numbness, tingling, or pain in hands and feet: Amyloid deposits in the nerves can cause numbness, tingling, or pain in the extremities [8][9].

Other possible symptoms of amyloidosis include:

• Diarrhea or constipation
• Enlarged tongue
• "Foamy" urine (pee)
• Pain, numbness, or tingling in other areas of the body

It's essential to note that these symptoms can be non-specific and may resemble those of other conditions. A definitive diagnosis of amyloidosis requires a biopsy or other diagnostic tests.

References:

[1] Context 1: Severe fatigue and weakness · Shortness of breath · Numbness, tingling, or pain in the hands or feet · Swelling of the ankles and legs · Diarrhea, possibly with ...

[2] Context 2: Oct 15, 2019 — Urine changes and swollen legs. · Unintentional, significant weight loss. · Severe fatigue. · Shortness of breath. · Numbness, tingling, weakness or ...

[3] Context 3: For example, cardiac amyloidosis symptoms include fainting, shortness of breath or weakness that may be signs of abnormal heart rhythms or heart failure.

[4] Context 7: Amyloid deposits in these organs can cause shortness of breath, fatigue, edema (swelling of ankles and legs), dizziness upon standing, a feeling of fullness in ...

[5] Context 2: Oct 15, 2019 — Urine changes and swollen legs. · Unintentional, significant weight loss. · Severe fatigue. · Shortness of breath. · Numbness, tingling, weakness or ...

[6] Context 4: Aug 13, 2024 — Symptoms of Amyloidosis · Changes in skin, such as bruising easily, thickening, and changes in color · Severe fatigue · Feeling of fullness · Joint ...

[7] Context 2: Oct 15, 2019 — Urine changes and swollen legs. · Unintentional, significant weight loss. · Severe fatigue. · Shortness of breath. · Numbness, tingling, weakness or ...

[8] Context 5: Common Amyloidosis Symptoms · Diarrhea or constipation · Enlarged tongue · Fatigue or weakness · "Foamy" urine (pee) · Pain, numbness or tingling in the hands, feet ...

[9] Context 6: Symptoms of amyloidosis · feeling very tired or weak · losing weight without trying to · shortness of breath · swollen feet or legs · bruising around your eyes.

Diagnostic Tests for Amyloidosis

Amyloidosis, a group of diseases characterized by the accumulation of abnormal proteins (amyloid) in various organs and tissues, can be diagnosed through several laboratory tests and procedures.

• Blood and Urine Tests: These tests are used to detect abnormal protein levels in the blood and urine, which can indicate amyloidosis. [1][2]
• Bone Marrow Biopsy: A bone marrow biopsy is performed to remove a small sample of bone marrow from the hipbone, which is then examined for signs of amyloid deposits. [3][7]
• Electromyography (EMG): EMG is used to evaluate muscle function and can help diagnose amyloid neuropathies. [4]
• 24-Hour Urine Collection: A 24-hour urine collection with urine protein electrophoresis and immunofixation electrophoresis (IFE) can detect up to 90% of those affected by amyloidosis when used in combination with serum protein electrophoresis (SPEP). [6]
• Biopsy: A biopsy, which involves removing a small sample of tissue from an affected organ, can provide a definitive diagnosis of amyloidosis. [5][8]

These diagnostic tests are essential for identifying amyloidosis and determining the extent of the disease in various organs and tissues.

References: [1] Context 1: Blood and urine may be analyzed for abnormal protein that can indicate amyloidosis. [2] Context 5: Blood and/or urine tests can indicate signs of the amyloid deposits. [3] Context 7: Bone marrow biopsy is performed to remove a small sample of bone marrow from the hipbone, which is then examined for signs of amyloid deposits. [4] Context 4: Electromyography with nerve conduction studies may be used to evaluate muscle function and diagnose amyloid neuropathies. [5] Context 8: A biopsy involves removing a small sample of tissue from an affected organ, which can provide a definitive diagnosis of amyloidosis. [6] Context 6: A 24-hour urine collection with urine protein electrophoresis and IFE can detect up to 90% of those affected by amyloidosis when used in combination with SPEP. [7] Context 3: Bone marrow biopsy is performed to remove a small sample of bone marrow from the hipbone, which is then examined for signs of amyloid deposits. [8] Context 9: A biopsy provides a definitive identification of amyloid proteins.

Treatment Options for Amyloidosis

Amyloidosis, a group of rare diseases characterized by the accumulation of abnormal proteins in various organs and tissues, can be treated with several drug options.

• Chemotherapy: Chemotherapy is a main treatment for primary amyloidosis (AL). Physicians may recommend a single medicine or a combination of medicines to destroy the abnormal plasma cells that produce the protein causing amyloidosis [5]. Some cancer drugs used in AL amyloidosis include chemotherapy agents such as cyclophosphamide or melphalan, which stop the growth of abnormal cells that produce the protein that forms amyloid [1].
• Immunomodulatory Drugs: Immunomodulatory drugs like lenalidomide and pomalidomide are used to treat AL amyloidosis. These medications work by modifying the immune system's response to the abnormal plasma cells [3].
• Proteosome Inhibitors: Proteosome inhibitors such as bortezomib, carfilzomib, and ixazomib are also used in the treatment of AL amyloidosis. These drugs inhibit the proteasome, a protein complex that breaks down proteins, thereby reducing the production of abnormal proteins [3].
• Tafamidis: Tafamidis is an FDA-approved treatment for transthyretin cardiac amyloidosis (ATTR-CA). It works by stabilizing the tetramer structure of transthyretin, preventing its aggregation and deposition in the heart [4].

Other Treatment Options

In addition to these drug treatments, other options may be considered on a case-by-case basis. These include:

• Stem Cell Transplantation: In some cases, stem cell transplantation may be recommended for patients with AL amyloidosis.
• Supportive Care: Supportive care measures such as pain management and symptom control are essential in the treatment of amyloidosis.

It's worth noting that the choice of treatment depends on various factors, including the type and severity of amyloidosis, overall health, and patient preferences. A multidisciplinary team of healthcare professionals should be involved in making these decisions.

References:

[1] May 13, 2023 — Chemotherapy. [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] by LK Stern · 2022 · Cited by 42 — The transthyretin (TTR) tetramer stabilizer, tafamidis, is the only FDA-approved treatment for transthyretin cardiac amyloidosis (ATTR-CA). [5] Mar 11, 2024 — Chemotherapy is a main treatment for primary amyloidosis (AL).

Differential Diagnosis of Amyloidosis

Amyloidosis is a group of diseases characterized by the accumulation of abnormal proteins (amyloid) in various tissues and organs. The differential diagnosis of amyloidosis involves identifying other conditions that may present with similar symptoms or laboratory findings.

Conditions to Consider:

• Systemic diseases: Acute myocarditis, bronchiectasis, and multiple myeloma are systemic diseases that can mimic the presentation of amyloidosis [7].
• Chronic inflammatory conditions: Conditions such as chronic inflammatory bowel disease, rheumatoid arthritis, and lupus erythematosus can be associated with AA amyloidosis [5].
• Cardiac conditions: Pericardial effusion, aortic stenosis, and heart failure are cardiac conditions that may be suggestive of cardiac amyloidosis [9].
• Cutaneous conditions: Sarcoidosis, cysts, neoplasia (including basal cell carcinoma), and mycosis fungoides are cutaneous conditions that can mimic primary cutaneous amyloidosis [6].

Key Features to Differentiate:

• AL vs. ATTR cardiac amyloidosis: AL amyloidosis is associated with a plasma cell disorder, whereas ATTR amyloidosis is not [3].
• Localized vs. systemic amyloidosis: Localized amyloidosis can be differentiated from systemic amyloidosis by analyzing TAT complexes, fibrinogen, and PIC [8].

References:

[1] AA Amyloidosis Differential Diagnoses · Aug 11, 2023 [2] Familial Renal Amyloidosis Differential Diagnoses · Dec 19, 2022 [3] BW Sperry (2022) Cited by 2 [4] Primary systemic (AL) amyloidosis is an acquired amyloidosis, almost always associated with a plasma cell dyscrasia. Oct 2, 2024 [5] DIFFERENTIAL DIAGNOSIS · SUMMARY AND RECOMMENDATIONS · REFERENCES. GRAPHICS. Tables. - Chronic inflammatory conditions associated with AA ... Aug 13, 2024 [6] What is the differential diagnosis for primary cutaneous amyloidosis? · Sarcoidosis · Cysts · Neoplasia, including basal cell carcinoma · Mycosis fungoides ... [7] Oct 28, 2019 — Overview. Amyloidosis needs to be differentiated from systemic diseases including acute myocarditis, bronchiectasis, and multiple myeloma. [8] by N Suga · 2012 · Cited by 15 — Conclusion: Analyses of TAT complexes, fibrinogen, and PIC can be used to differentiate localized AL amyloidosis from systemic amyloidosis. [9] by BW Sperry · 2022 · Cited by 2 — Features suggestive of cardiac amyloidosis include pericardial effusion, which is more common in AL than in ATTR amyloidosis, aortic stenosis (classically low ...