Hereditary transthyretin amyloidosis is a rare chronic disease. It is caused by abnormal protein deposits in organs or tissues and can take several forms.
- Hereditary transthyretin amyloidosis is a rare disease: 50,000 people are affected worldwide.
- It can take different forms and therefore cause varied symptoms: gastrointestinal disorders, loss of sensitivity, difficulty moving, etc.
- Treatments can slow down or even stop its progression.
Hereditary transthyretin amyloidosis affects approximately 50,000 people worldwide. This chronic disease is linked to a genetic mutation that causes misfolding of transthyretin (TTR) proteins. “When these amyloid proteins accumulate, they stick to each other and take the form of rigid linear fibrils, like a braided scoubidou thread, we speak of amyloid fibrilsexplains theFrench association against amyloidosis. These rigid fibrils accumulate in the organs, form amyloid plaques and prevent their normal functioning. Different proteins may be affected: there are therefore different types of hereditary transthyretin amyloidosis. “The organs affected depend on the type of amyloidosiswarns the association. Depending on the organ in which the amyloid fibrils are deposited, we will speak of renal, cardiac, pulmonary, neurological, digestive amyloidosis, etc..”
How to recognize hereditary transthyretin amyloidosis?
The same disease masks different realities and depending on the parts of the body affected, the symptoms will not be the same. “The symptoms encountered during amyloidosis are often vague and not very specific at first. adds the association. This can be heart problems, loss of sensitivity, weakness of the limbs or pain, alternating gastrointestinal disorders: diarrhea, constipation, nausea, vomiting, etc. “The most characteristic neurological manifestation is length-dependent axonal degeneration, which causes neurological dysfunction, develop the site amyloidose.be. Heart problems are mainly heart failure and conduction disorders. Autonomic disorders may also occur, for example erectile dysfunction or kidney problems.”In some forms of the disease, walking becomes increasingly difficult.”In some patients, paresthesia and pain in one or both wrists are a first feature (carpal tunnel syndrome).”completes the site.
Hereditary transthyretin amyloidosis: a diagnosis that takes time
“Due to the variety of initial symptoms and the rarity of the disease, which is poorly understood by doctors, the diagnosis is often delayed. indicates the French Association against Amyloidosis. According to a study carried out by a patients’ association in the United States, diagnosis takes about a year from the first symptoms and requires consulting five doctors, on average. “However, it is important that the diagnosis is made as quickly as possible to avoid progressive worsening of organ damage, particularly cardiac damage., warns the association. Only a biopsy allows a reliable diagnosis to be made.
Hereditary transthyretin amyloidosis: what are the treatments?
Once the diagnosis has been made, support is put in place. The French Association Against Amyloidosis emphasizes that it is multidisciplinary: it includes at least a neurologist, a cardiologist, an ophthalmologist and a geneticist. “The treatment involves treatment anti-amyloid if possible, treatment of the manifestations of the disease, medico-social care and genetic counseling for the screening and management of TTR gene mutation carriers“, she adds. Existing treatments can slow the development of the disease, or even stop it, but not reduce the existing symptoms. “Without treatment, the disease progresses inexorably towards the worsening of sensory and motor deficits, autonomic disorders, and often cardiac damage, responsible for disabilities, she warns. Death occurs within ten years.“
