Learn more about hereditary ATTR amyloidosis (hATTR) this World Amyloidosis Day
At Sobi, we are proud to support the first ever World Amyloidosis Day, 26 October. The aim of the day is to raise awareness of this rare and complex group diseases in order to improve the time it takes for diagnosis and treatment.
Hereditary transthyretin amyloidosis (hATTR) is a type of amyloidosis that can have a devastating impact. “hATTR is a very severe disease, so awareness of the symptoms plays a vital role in quick diagnosis and rapid treatment1,” says Anna Rundcrantz, Portfolio Director for Specialty Care & Commercial Operations at Sobi.
What is hATTR?
hATTR is a rare, progressive and debilitating genetic disease caused by a gene change or mutation in the transthyretin (TTR) protein. It is a type of amyloidosis, a group of four diseases with various causes and symptoms2.
What are the symptoms of hATTR?
Since hATTR can manifest itself in many ways and with a broad range of symptoms, it can be hard for doctors and patients to recognise. Patients often present with a cluster of one, two, three or more red-flag symptoms. The most frequent include breathlessness, dizziness when changing position, weight loss, diarrhoea, fatigue, loss of sensation in the feet, and heart failure3.
“This is a progressive disease,” says Anna. “In stage 1, the patient is affected by early neurological symptoms, such as tingling or numbness in the limbs and extremities4. In stage 2, after five or six years, they can start losing function, and in stage 3, after 10-15 years, the disease is severe, with people confined to wheelchairs and with only a few years to live5 6.”
What happens if hATTR goes untreated?
Survival depends on the mutation and can range from two to five years from initial presentation in untreated patients7.
Who is affected?
hATTR affects both men and women, with onset usually occurring around 50-60 years of age8. Early forms can occur as young as 30 years of age9. To learn more about what it’s like living with hATTR, watch Larza’s story below:
How many people are affected?
It is estimated to affect around 10,000 people globally10, and 3,500 – 5,000 patients in Europe. Within Europe the highest prevalence is in Portugal and Sweden, and large populations also in Germany, Italy and France11.
What is the diagnosis pathway?
“hATTR is underdiagnosed and the journey to diagnosis is a long one, averaging four years12,” Anna says. “Once you have the diagnosis, it is urgent to get rapid treatment before the patient starts losing function. Once the function is gone, you can never get it back. For that reason, educating physicians and the public is crucial.”
To learn more or support a local World Amyliodosis event, visit https://www.worldamyloidosisday.org/
4 Monteiro C, Mesgazardeh JS et al. Predictive model of response to tafamidis in hereditary ATTR polyneuropathy. JCI Insight. 2019 Jun 20;4(12):e126526
5 Adams D. Ther, Adv Neurol Disord. 2013;6(2):129–139.
6 Coutinho P et al, Forty years of experience with type I amyloid neuropathy. Review of 483 cases. In: Glenner G, Costa P, de Freitas A
(Editors), Amyloid and amyloidosis. Amsterdam: Excerpta Medica; 1980. p. 88–98. * Due to early onset (<50 years) Val30met
9 https://www.worldamyloidosisday.org/wp-content/uploads/2021/04/AM-INFO-GB-DEF.pdf
10 Manganelli2020_Article_HereditaryTransthyretinAmyloid
12 Hawkins P et al. Ann Med. 2015;47:625-638
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