Familial amyloidosis is a rare disease that mainly affects the nerves and heart, but also more rarely the eyes and kidneys. This disease is due to a mutation in the gene encoding the synthesis of transthyretin, resulting in a modification of the translated protein. This abnormal protein and its derivatives are deposited in the form of a toxic "amyloid" substance in tissues and organs, altering their functions, particularly in the gastrointestinal tract. From a gastrointestinal perspective, different treatments can be proposed in the absence of specific recommendations for familial amyloidosis. The hygienic and dietary measures consist of avoiding tobacco, alcohol and carbonated drinks, limiting fatty meals rich in poorly digestible fibers, and splitting meals. If this fails, metoclopramide and domperidone are suggested. As a second-line erythromycin, can be used with caution because of cardiac risks and drug interactions. Polyethylene glycol-based osmotic laxatives can be used to treat constipation. Alternating diarrhea and constipation can be treated with ispaghul-based laxatives, aiming at transit regulation. Finally, refractory diarrhea can be treated with the administration of loperamide. If this fails, treatment with a somatostatin analogue may be offered. However, all these treatments can present significant side effects, therefore natural alternatives are often sought. Psyllium in particular regulates transit by normalizing stool consistency: it is effective against digestive disorders such as constipation, but it is also effective in the event of diarrhea. It allows the formation of a viscous gel by the hydrophilicity of polysaccharides macromolecules, increasing the fecal bowl which stimulates peristalsis and facilitates defecation. The WHO has recognized that Psyllium is superior to wheat bran in the treatment of irritable bowel syndrome. The main objective of the study is to assess the effect of daily Psyllium administration on digestive quality of life in familial amyloidosis patients who suffer from digestive disorders.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Psyllium is given to patients
University Hospital of Nice
Nice, Provence-Alpes-Côte d'Azur Region, France
Effect of Psyllium administration on digestive quality of life in familial amyloidosis patients
The effect of Psyllium administration on digestive quality of life in familial amyloidosis patients will be evaluated at 6 months using the Gastrointestinal Quality of Life index (GIQLI)
Time frame: 6 months
Effect of Psyllium administration on global quality of life in familial amyloidosis patients
The effect of Psyllium administration on global quality of life in familial amyloidosis patients will be evaluated at 6 months using the Norfolk Quality of Life - questionnaire
Time frame: 6 months
Effect of Psyllium administration on motor function in familial amyloidosis patients
The effect of Psyllium administration on motor function in familial amyloidosis patients will be evaluated at 6 months using the Neuropathy Impairment Score Lower Limb tests (0 to 88; 0 is defined as a normal status)
Time frame: 6 months
Effect of Psyllium administration on gastro intestinal pain in familial amyloidosis patients
The effect of Psyllium administration on gastro intestinal pain in familial amyloidosis patients will be evaluated at 6 months using the visual analogy scale (0 to 10; 0 is defined as no pain status)
Time frame: 6 months
Effect of Psyllium administration on stool density in familial amyloidosis patients
The effect of Psyllium administration on stool density in familial amyloidosis patients will be evaluated at 6 months using the Bristol score (1 to 7; 1-2 is defined as a constipation status, 3-4 is the most regular status, 5-7 is defined by diarrheas)
Time frame: 6 months
Adverse effects of Psyllium administration in familial amyloidosis patients
Adverse effects of Psyllium administration in familial amyloidosis patients will be recorded thoughout the study
Time frame: 6 months
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