User:Mr. Ibrahem/Hereditary amyloidosis transthyretin-related
| Mr. Ibrahem/Hereditary amyloidosis transthyretin-related | |
|---|---|
| Other names | Corino de Andrade's disease; amyloidosis hereditary transthyretin-related |
 | |
| Hereditary amyloidosis transthyretin-related has an autosomal dominant pattern of inheritance. | |
| Specialty | Neurology |
| Symptoms | Numbness of the limbs, carpal tunnel syndrome, autonomic dysfunction, cardiomyopathy[1][2] |
| Complications | Severe diarrhea, weight loss, low blood pressure with standing[2] |
| Usual onset | 40 to 65 years[3] |
| Types | Familial amyloid polyneuropathy, cardiac amyloidosis, leptomeningeal amyloidosis[2] |
| Causes | Genetic (autosomal dominant)[2] |
| Diagnostic method | Based on symptoms, biopsy, genetic testing[1] |
| Treatment | Liver transplantation[3] |
| Medication | Patisiran, inotersen, vutrisiran, tafamidis[3][4] |
| Frequency | Rare[1] |
| Deaths | Life expectancy 5 to 15 yr post onset[2] |
Hereditary amyloidosis transthyretin-related (hATTR) is a condition that can result in numbness of the limbs, carpal tunnel syndrome, autonomic dysfunction, and cardiomyopathy.[1][2] As the disease progresses severe diarrhea, weight loss, and low blood pressure with standing may occur.[2]
It is due to a autosomal dominant genetic mutation which is inherited from a person's parents or newly occurs during early development.[2][3] Various mutations may be involved.[2] The underlying mechanism involves build-up of the protein amyloid in body tissues.[1] Diagnosis is based on symptoms, biopsy, and genetic testing.[1] It is a type of amyloidosis.[3]
Treatments may include liver transplantation in early disease.[3] The medications patisiran, inotersen, or vutrisiran may be used for nerve problems while tafamidis may be used for heart problems.[3][4] Death generally occurs around 10 years after symptom onset.[2]
Familial amyloid polyneuropathy occurs in about 4% of African Americans and 1 in 100,000 white people.[3] Onset of symptoms is usually in those 40 to 65 years old.[3] It was first described by Portuguese neurologist Mário Corino da Costa Andrade, in 1952.[2][5]
References[edit]
- ^ a b c d e f "Familial transthyretin amyloidosis - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 15 November 2022. Retrieved 13 December 2022.
- ^ a b c d e f g h i j k "#105210 - AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED". omim.org. Archived from the original on 6 December 2022. Retrieved 13 December 2022.
- ^ a b c d e f g h i "Amyloidosis". NORD (National Organization for Rare Disorders). Archived from the original on 18 August 2022. Retrieved 12 December 2022.
- ^ a b "DailyMed - AMVUTTRA- vutrisiran injection". dailymed.nlm.nih.gov. Archived from the original on 3 July 2022. Retrieved 13 December 2022.
- ^ Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves". Brain. 75 (3): 408–27. doi:10.1093/brain/75.3.408. PMID 12978172.