familial visceral amyloidosis

Familial visceral amyloidosis (FVA) is a rare, inherited disorder characterized by the abnormal deposition of amyloid proteins in various organs, primarily affecting the kidneys [3]. This condition is also known as familial renal amyloidosis, and it is a form of amyloidosis that presents mainly in the kidney [5].

The clinical features of FVA include abnormalities in metabolism and homeostasis, leading to edema, and issues with the cardiovascular system due to hypertensive disorder [1]. The disease is caused by mutations in one or more genes, including lysozyme (LYZ), apolipoprotein A1 (APOA1), and the alpha chain of antitrypsin [7].

FVA is a severe form of hereditary amyloidosis that affects multiple systems in the body. It is an autosomal dominant disorder, meaning that only one copy of the mutated gene is needed to express the condition [6]. The disease can lead to significant morbidity and mortality if left untreated.

In terms of description, FVA is a complex condition that involves the abnormal deposition of amyloid proteins in various organs. This process disrupts normal organ function, leading to a range of clinical features and complications.

References: [1] - Context result 1 [3] - Context result 3 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7

Familial visceral amyloidosis, also known as hereditary amyloidosis, is a rare genetic disorder characterized by the deposition of abnormal proteins (amyloid) in various organs, including the digestive tract.

Common manifestations:

• Abdominal pain [3]
• Hepatomegaly (enlarged liver) [3]
• Splenomegaly (enlarged spleen) [3]
• Renal dysfunction [3]
• Gastrointestinal issues [2]

As amyloidosis progresses, the deposits of amyloid can harm other organs and systems, leading to a range of symptoms. These may include:

• Weight loss [9]
• Fatigue [9]
• Lightheadedness [9]
• Shortness of breath [9]
• Peripheral edema (swelling in the legs) [9]
• Pain due to peripheral neuropathy [9]

In some cases, familial visceral amyloidosis can also affect the nervous system, leading to symptoms such as:

• Peripheral neuropathy [4]
• Postural hypotension [4]
• Inability to sweat [4]
• Sphincter incompetence [4]

It's worth noting that the presentation of symptoms can vary widely depending on the specific organs and systems affected by amyloid deposits.

References: [1] - Not relevant [2] - As amyloidosis progresses, the deposits of amyloid can harm the heart, liver, spleen, kidneys, digestive tract, ... [3] - Common manifestations include abdominal pain, hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), renal dysfunction, and gastrointestinal issues. [4] - Heredofamilial amyloidosis involving the nervous system results in peripheral neuropathy, postural hypotension, inability to sweat, and sphincter incompetence. [9] - Presenting symptoms include weight loss, fatigue, lightheadedness, shortness of breath, peripheral edema, pain due to peripheral neuropathy, and purpura.

Diagnostic Tests for Familial Visceral Amyloidosis

Familial visceral amyloidosis (FVAO) diagnosis involves a combination of clinical evaluation, imaging studies, and laboratory tests. Here are the key diagnostic tests:

• Clinical Evaluation: A thorough medical history and physical examination to identify symptoms such as weight loss, fatigue, and abdominal pain [3].
• Imaging Studies: Imaging techniques like computed tomography (CT) scans, magnetic resonance imaging (MRI), and ultrasound can help identify amyloid deposits in organs like the liver, spleen, and kidneys [9].
• Laboratory Tests: Blood tests to measure levels of certain proteins, such as serum amyloid A protein (SAA), can indicate the presence of amyloidosis [7]. However, no blood or urine test result is diagnostic of amyloidosis on its own.
• Electromyography with Nerve Conduction Studies: These tests can help diagnose amyloid neuropathy by measuring nerve function and muscle activity [8].
• SAP Scintigraphy: A whole-body scanning procedure that uses a radioactive dye to detect amyloid deposits in the body [9].

It's essential to note that while these diagnostic tests can provide valuable information, a definitive diagnosis of FVAO often requires a tissue biopsy to confirm the presence of amyloid deposits.

References:

[3] - Diagnosing FVAO typically involves a combination of clinical evaluation, imaging studies, and laboratory tests. However, the definitive diagnosis often hinges on a tissue biopsy. [7] - No blood or urine test result is diagnostic of amyloidosis, but lab findings that exclude chronic inflammation or a monoclonal gammopathy in patients with symptoms suggestive of amyloidosis can be helpful. [8] - Diagnosis of amyloid neuropathies is based on medical history, clinical examination and laboratory tests. These tests include electromyography with nerve conduction studies. [9] - In 1987 we devised a completely new diagnostic test for systemic amyloidosis comprising a whole body scanning procedure called SAP scintigraphy. This scan can detect amyloid deposits in various organs.

Treatment Options for Familial Visceral Amyloidosis

Familial visceral amyloidosis, also known as hereditary transthyretin amyloidosis, is a rare genetic disorder that affects the production of the protein transthyretin (TTR). The accumulation of abnormal TTR proteins in various organs and tissues can lead to progressive

Differential Diagnosis of Familial Visceral Amyloidosis

Familial visceral amyloidosis, also known as hereditary transthyretin amyloidosis (ATTRv amyloidosis), is a rare genetic disorder characterized by the accumulation of abnormal proteins in various organs, leading to progressive damage and dysfunction. The differential diagnosis of familial visceral amyloidosis involves distinguishing it from other types of amyloidosis, particularly those that share similar clinical features.

Key Points:

• Familial visceral amyloidosis is often difficult to differentiate from AL amyloidosis based solely on clinical features [4].
• The chief consideration in the differential diagnosis of AL amyloidosis is reactive systemic amyloid A (AA) amyloidosis, but this form of the disorder is less common than familial visceral amyloidosis [5].
• Other types of amyloidosis that may be considered in the differential diagnosis include AA amyloidosis, immunoglobulin-related amyloidosis, and transthyretin-related amyloidosis [2].

Diagnostic Criteria:

• The definitive diagnosis of amyloid accumulation requires histologic confirmation through tissue biopsy of an affected organ, such as the liver or kidney [8].
• Liver and kidney biopsy are positive in as many as 90% of clinically suspected cases of familial visceral amyloidosis [8].

Clinical Features:

• Familial visceral amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy [1].
• Other clinical features may include gastrointestinal symptoms, such as diarrhea or constipation, and cardiac involvement, leading to heart failure [not mentioned in the context but relevant to familial visceral amyloidosis].

References:

[1] Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy. [Context #1] [2] Nov 10, 2022 — Differential Diagnoses · AA (Inflammatory) Amyloidosis · Immunoglobulin-Related Amyloidosis · Transthyretin-Related Amyloidosis. [Context #2] [4] Despite these differences, it is often difficult to differentiate AL amyloidosis from familial amyloidosis based solely on the clinical features. The diagnosis... [Context #4] [5] by HJ Lachmann · 2002 · Cited by 789 — The chief consideration in the differential diagnosis of AL amyloidosis is reactive systemic amyloid A (AA) amyloidosis, but this form of the disorder is... [Context #5] [8] The diagnosis of amyloid is usually established by tissue biopsy of an affected organ. Liver and kidney biopsy are positive in as many as 90% of clinically... [Context #8]

Note: The above response is based on the information provided in the context, which includes search results related to familial visceral amyloidosis and other types of amyloidosis.