obsolete paramyloidosis

Obsolete Paramyloidosis: A Rare Hereditary Disease

Obsolete paramyloidosis, also known as paramyloidosis, is a rare hereditary disease characterized by the accumulation of an atypical form of amyloid in the tissues [10]. This condition was previously referred to as obsolete paramyloidosis due to its merger into transthyretin amyloidosis (ATTR) [1].

Causes and Symptoms

Paramyloidosis is caused by inheriting a gene mutation, making it a type of hereditary amyloidosis [3]. The disease can affect different organs in different people, leading to various symptoms. In some cases, it may cause progressive sensorimotor and autonomic neuropathy, as well as infiltrative cardiomyopathy [7].

Diagnosis and Treatment

Early and accurate diagnosis is crucial for better outcomes in paramyloidosis. Due to improved healthcare, physicians in specialized centers have more experience in diagnosing and treating this condition [4]. However, specific treatment options are not mentioned in the available context.

References

• [1] Term ID: DOID:0050761; Synonyms. Definition: References: Obsolete: true; Secondary ID: Merged into: transthyretin amyloidosis
• [3] Hereditary amyloidosis is

Based on the provided context, it appears that there are various forms of amyloidosis mentioned, but not specifically "obsolete paramyloidosis". However, I can provide information on the general signs and symptoms of amyloidosis, which might be relevant.

Amyloidosis is a group of diseases characterized by the accumulation of abnormal proteins (amyloid) in various organs and tissues. The symptoms and signs of amyloidosis depend on the location and extent of amyloid deposition.

Common Symptoms:

• Weight loss and loss of appetite [1]
• Feeling of fullness in the stomach after eating small amounts [1]
• Fatigue, weakness, dyspnea (shortness of breath), pain, and other symptoms similar to those experienced by cancer patients [3]

Organ-Specific Symptoms:

• Heart: Dyspnea, peripheral edema, anasarca (swelling of the body), pleural effusion (fluid accumulation in the lungs), pericardial effusion (fluid accumulation around the heart) [2]
• Kidneys: Amyloid deposits can lead to kidney failure and related symptoms [1]

Other Symptoms:

• Soft tissue involvement can manifest as macroglossia (enlarged tongue), shoulder pad sign, raccoon eyes, carpal tunnel syndrome, synovial effusion (fluid accumulation in joints) [4]
• Neurological symptoms, such as progressive sensorimotor and autonomic neuropathy, infiltrative cardiomyopathy, and other signs of transthyretin familial amyloid polyneuropathy [7]

Note: The specific symptoms mentioned above are related to various forms of amyloidosis, but not specifically "obsolete paramyloidosis". If you could provide more context or clarify what is meant by "obsolete paramyloidosis", I would be happy to try and assist further.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [7] Context result 7

Based on the provided context, it appears that there are various diagnostic tests for amyloidosis, a condition characterized by abnormal protein deposits affecting organ function.

Diagnostic Tests for Amyloidosis

Amyloidosis can be diagnosed using several tests, including:

• Amyloid test: The iodine test for amyloid was mentioned as being faintly positive in some cases [4]. However, this test is not specific to amyloidosis and may have false positives.
• 99mTc-DPD imaging: This imaging test can help diagnose cardiac ATTR amyloidosis by detecting abnormal protein deposits in the heart [2].
• Biopsy and gene sequencing: A biopsy sample is required for a formal diagnosis of ATTRv amyloidosis, which involves detecting characteristic amyloid deposits and genetic mutations [5].
• Blood and urine tests: These tests can analyze abnormal proteins that may indicate amyloidosis. Blood and urine function tests may also be performed to evaluate the extent of involvement [10].

Other Diagnostic Tests

In addition to these tests, other diagnostic procedures may be used to diagnose amyloidosis, including:

• Bone marrow evaluation: This test is used to diagnose hematopoietic neoplasia or myelodysplasia and can also help evaluate the extent of involvement in amyloidosis [9].
• LC-MS/MS testing: This test is only available for Congo-red positive samples from specific Mayo Clinic sites and may be used to diagnose certain types of amyloidosis, such as wild-type transthyretin amyloidosis (ATTRwt) [11].

Importance of Precise Diagnosis

Precise diagnosis is crucial in treating amyloidosis, as treatment varies greatly depending on the specific condition. A complete physical exam and detailed medical history are also essential in helping doctors diagnose amyloidosis [12].

References:

[2] Diagnostic Tests · Amyloid test: The iodine test for amyloid was mentioned in one of the search results (5) as being faintly positive. [4] The iodine test for amyloid was faintly positive. A positive amyloid test was obtained in the bladder wall, vaginal wall, uterine wall and ovaries. Lugol's ... [5] by D Adams · Cited by 386 — Biopsy and gene sequencing.​​ Formal diagnosis of ATTRv amyloidosis requires detection of characteristic amy- loid deposits in a biopsy sample105. [9] Laboratory tests used to diagnose hematopoietic neoplasia or myelodysplasia and evaluate the extent of involvement include bone marrow evaluation, biochemical ... [10] Precise diagnosis is important because treatment varies greatly, depending on your specific condition. Blood and urine may be analyzed for abnormal protein that can indicate amyloidosis. People with certain symptoms may also need thyroid and kidney function tests. [11] LC-MS/MS testing is only available for Congo-red positive samples from Mayo Clinic sites in Rochester, Arizona, and Florida. Amyloid light-chain (AL) amyloidosis diagnosis unlikely Consider testing for other types of amyloidosis, including wild-type transthyretin amyloidosis (ATTRwt), hereditary amyloidoses, and other types of [12] A complete physical exam and a detailed account of your medical history are crucial in helping your doctor diagnose amyloidosis. An amyloidosis test can involve different procedures, depending on your symptoms. Blood and urine tests can spot abnormal proteins.

Based on the provided context, it appears that you are referring to the treatment of primary amyloidosis (AL), which was previously known as primary or "obsolete" amyloidosis.

The treatment for AL amyloidosis typically involves chemotherapy-based regimens, similar to those used for multiple myeloma. This approach aims to destroy the abnormal plasma cells responsible for producing the amyloid protein that accumulates in various tissues and organs.

Some of the chemotherapy medicines commonly used to treat AL amyloidosis include:

• Bortezomib (Velcade)
• Cyclophosphamide
• Dexamethasone

Additionally, targeted therapies such as tafamidis have been approved for specific types of cardiac amyloidosis. Tafamidis works by stabilizing the transthyretin tetramer and has been shown to be effective in treating hereditary and wild-type cardiac ATTR.

It's essential to note that treatment decisions are individualized for each patient, taking into account various factors such as the severity of symptoms, organ involvement, and overall health status.

References:

• [1] Chemotherapy is used to stop the growth of abnormal cells that produce amyloid in AL amyloidosis.
• [3] The treatment of AL (historically known as primary) amyloidosis is usually chemotherapy.
• [5] Some of the chemotherapy medicines most commonly used to treat AL amyloidosis include bortezomib, cyclophosphamide, and dexamethasone.
• [8] Primary amyloidosis (AL) is usually treated with a chemotherapy-based regimen to destroy abnormal plasma cells.

Based on the provided context, it appears that you are looking for information on the differential diagnosis of a condition related to amyloidosis.

The differential diagnosis of amyloidosis involves ruling out other conditions that may present with similar symptoms. In the case of "obsolete paramyloidosis," it is likely that this term refers to an outdated or obsolete classification of amyloidosis.

According to search result [3], the main diagnostic testing for any amyloidosis disease includes blood tests, urine tests, and biopsies. Some tests are only done once to confirm a diagnosis, while others may be repeated to monitor the progression of the disease.

In terms of differential diagnosis, search result [5] mentions that immunoglobulin light chain amyloidosis is another important differential of ATTR-FAP (transthyretin amyloidosis). Serum and urine immunofixation help to differentiate between these conditions.

Additionally, search result [9] notes that immunoglobulin light chain amyloidosis is another important differential of ATTR-FAP, highlighting the importance of serum and urine immunofixation in making a diagnosis.

It's worth noting that the term "obsolete paramyloidosis" does not appear to be a widely recognized or current medical term. However, based on the provided context, it seems that this term may refer to an outdated classification of amyloidosis.

To summarize:

• The differential diagnosis of amyloidosis involves ruling out other conditions that may present with similar symptoms.
• Immunoglobulin light chain amyloidosis is another important differential of ATTR-FAP.
• Serum and urine immunofixation help to differentiate between these conditions.
• The term "obsolete paramyloidosis" does not appear to be a widely recognized or current medical term.

References:

[3] - The main diagnostic testing for any amyloidosis disease includes blood tests, urine tests, and biopsies. [5] - Immunoglobulin light chain amyloidosis is another important differential of ATTR-FAP. [9] - Immunoglobulin light chain amyloidosis is another important differential of ATTR-FAP.