DocSym
β
Searchsearch
Search
(E85.1) Neuropathic heredofamilial amyloidosis
More details coming soon
102 222 in individuals diagnosis neuropathic heredofamilial amyloidosis confirmed
52 500 deaths with diagnosis neuropathic heredofamilial amyloidosis
51% mortality rate associated with the disease neuropathic heredofamilial amyloidosis
Diagnosis neuropathic heredofamilial amyloidosis is diagnosed Men are 6.07% more likely than Women
54 214
Men receive the diagnosis neuropathic heredofamilial amyloidosis
32 453 (59.9 %)Died from this diagnosis.
100
95
90
85
80
75
70
65
60
55
50
45
40
35
30
25
20
15
10
5
0
48 008
Women receive the diagnosis neuropathic heredofamilial amyloidosis
20 047 (41.8 %)Died from this diagnosis.
Risk Group for the Disease 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 neuropathic heredofamilial amyloidosis
Absence or low individual and public risk
Neuropathic heredofamilial amyloidosis - what does this mean
Neuropathic heredofamilial amyloidosis is a rare genetic disorder caused by a mutation in the ttr gene, which produces a protein called transthyretin. the mutated protein accumulates in the body, forming amyloid deposits in nerves, organs, and other tissues, leading to a variety of symptoms including neuropathy, organ failure, and autonomic dysfunction.
What happens during the disease - neuropathic heredofamilial amyloidosis
Neuropathic heredofamilial amyloidosis is a rare genetic disorder caused by mutations in the transthyretin gene. these mutations cause a buildup of abnormal proteins called amyloid in the nerves, leading to nerve damage, sensory disturbances, and gradual paralysis. over time, the amyloid deposits can spread to other organs, leading to organ dysfunction and eventually death.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- Neurological examination
- Imaging studies (MRI, CT, PET)
- Electrodiagnostic studies (EMG, NCS)
- Blood tests (amyloid levels, genetic testing)
- Biopsy of affected tissues
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of neuropathic heredofamilial amyloidosis and improve the patient's quality of life.
- Regular monitoring of the patient's physical and mental health
- Medication to reduce symptoms such as pain, fatigue, and cognitive impairment
- Physical therapy to improve mobility and strength
- Occupational therapy to help the patient adjust to daily activities
- Speech therapy to improve communication skills
- Counseling to help manage stress and anxiety
- Nutritional counseling to ensure the patient is getting the right nutrients
- Alternative therapies such as acupuncture and massage therapy
- Support groups to provide emotional support and share experiences
19 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Neuropathic heredofamilial amyloidosis - Prevention
Neuropathic heredofamilial amyloidosis can be prevented by avoiding exposure to environmental toxins, maintaining a healthy lifestyle, and avoiding alcohol and tobacco use. additionally, genetic counseling is recommended for individuals with a family history of the disease.