Health A-Z

ICELADIC TYPE AMYLOIDOSIS, also known as Type VI amyloidosis, is a rare genetic disorder characterized by the deposition of abnormal proteins, called amyloids, in various organs and tissues throughout the body. Here's an overview of symptoms, diagnosis, testing, and treatment options.

1. Renal Symptoms: Proteinuria (protein in urine), nephrotic syndrome (a group of symptoms including proteinuria, low blood protein levels, high cholesterol levels, and edema), renal failure.
2. Cardiac Symptoms: Cardiomyopathy (disease of the heart muscle), heart failure, arrhythmias (irregular heartbeats).
3. Neurological Symptoms: Peripheral neuropathy (damage to peripheral nerves), autonomic neuropathy (damage to nerves that control involuntary bodily functions), carpal tunnel syndrome.
4. Other Symptoms: Gastrointestinal issues, including malabsorption and diarrhea; skin involvement such as macroglossia (enlarged tongue) and purpura (purple spots due to bleeding under the skin).

1. Symptomatic Management: Treatment focuses on managing symptoms and complications. For example, medications may be prescribed to control blood pressure, reduce proteinuria, manage heart failure, or relieve neuropathic pain.
2. Supportive Care: Patients may benefit from supportive care measures such as dietary modifications, physical therapy, and occupational therapy to manage symptoms and improve quality of life.
3. Organ-specific Treatments: Depending on the organs affected and the severity of involvement, organ-specific treatments such as dialysis for renal failure or cardiac medications for heart failure may be necessary.
4. Genetic Counseling: Genetic counseling should be offered to patients and their families to discuss the inheritance pattern of ICELADIC type amyloidosis and the implications for family planning.

1. Genetic Testing: Since ICELADIC type amyloidosis is a genetic disorder, genetic testing can identify mutations in the affected genes. ICELADIC type amyloidosis is caused by mutations in the GSN gene, which encodes for the protein gelsolin.
2. Biopsy: Biopsy of affected tissues, such as kidney or cardiac tissue, can reveal the presence of amyloid deposits. Congo red staining followed by examination under polarized light microscopy is a common method to confirm the presence of amyloid deposits.
3. Imaging Tests: Imaging tests like echocardiography may be used to assess cardiac involvement, while nerve conduction studies and electromyography can evaluate peripheral neuropathy.
4. Blood Tests: Blood tests may reveal abnormalities such as elevated creatinine levels (indicative of kidney dysfunction), elevated troponin levels (indicative of cardiac damage), or abnormal liver function tests.