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(E85.0) Non-neuropathic heredofamilial amyloidosis
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102 222 in individuals diagnosis non-neuropathic heredofamilial amyloidosis confirmed
52 500 deaths with diagnosis non-neuropathic heredofamilial amyloidosis
51% mortality rate associated with the disease non-neuropathic heredofamilial amyloidosis
Diagnosis non-neuropathic heredofamilial amyloidosis is diagnosed Men are 6.07% more likely than Women
54 214
Men receive the diagnosis non-neuropathic heredofamilial amyloidosis
32 453 (59.9 %)Died from this diagnosis.
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48 008
Women receive the diagnosis non-neuropathic heredofamilial amyloidosis
20 047 (41.8 %)Died from this diagnosis.
Risk Group for the Disease non-neuropathic heredofamilial amyloidosis - Men and Women aged 70-74
In Men diagnosis is most often set at age 0-14, 20-94
Less common in men the disease occurs at Age 0-1, 15-19, 95+Less common in women the disease occurs at Age 0-1, 95+
In Women diagnosis is most often set at age 0-94
Disease Features non-neuropathic heredofamilial amyloidosis
Absence or low individual and public risk
Non-neuropathic heredofamilial amyloidosis - what does this mean
Non-neuropathic heredofamilial amyloidosis is a rare inherited disorder caused by a mutation in the transthyretin gene, which results in the production of an abnormal form of the protein transthyretin. this abnormal protein is deposited in the organs of the body, leading to organ damage and dysfunction.
What happens during the disease - non-neuropathic heredofamilial amyloidosis
Non-neuropathic heredofamilial amyloidosis is a type of amyloidosis that is caused by the abnormal deposition of amyloid proteins in the organs and tissues of the body. the amyloid proteins are produced by the body in response to an inherited genetic mutation that causes the proteins to misfold and accumulate in organs and tissues, leading to organ damage and dysfunction. the amyloid proteins are normally found in the body in small amounts, but in this condition they accumulate to levels that are toxic to the body, leading to organ damage and dysfunction.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- Biochemical tests
- Genetic testing
- Imaging studies (CT, MRI, PET)
- Echocardiogram
- Cardiac biomarkers
- Electrocardiogram (ECG)
- Urinalysis and urine protein electrophoresis
- Liver biopsy
- Skeletal muscle biopsy
Treatment and Medical Assistance
Main goal of the treatment: To reduce the amount of amyloid proteins in the body and to manage the symptoms.
- Regular monitoring of vital signs
- Medication to reduce inflammation and pain
- Regular physical activity
- Nutritional counseling and dietary modifications
- Regular blood tests to monitor the disease progression
- Regular urine tests to monitor the levels of amyloid proteins
- Plasmapheresis to remove the amyloid proteins from the blood
- Stem cell transplant to replace the diseased cells
- Gene therapy to replace the defective gene
- Organ transplant to replace the affected organs
19 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Non-neuropathic heredofamilial amyloidosis - Prevention
Non-neuropathic heredofamilial amyloidosis can be prevented through genetic counseling and testing to identify those at risk of inheriting the disorder. additionally, lifestyle modifications such as avoiding smoking, alcohol, and unhealthy foods can help reduce the risk of developing the disease.