Acquired amyloidosis: case report
DOI:
https://doi.org/10.32385/rpmgf.v42i1.14061Keywords:
Acquired amyloidosis, Domino liver transplant, Treatment, PrognosisAbstract
Introduction: Familial amyloidotic polyneuropathy (FAP) or amyloidosis is an autosomal dominant disease caused mainly by a mutation in the transthyretin (TTR) gene, leading to the accumulation of amyloid deposits in various tissues and organs, such as the skin, heart, liver, and peripheral nerves. As most plasma TTR is produced by the liver, liver transplantation is the best therapeutic option. The acquired form of FAP consists of the presence of this same accumulation of amyloid deposits in patients who have undergone liver transplantation from FAP patients and is known as domino liver transplantation. Sensory polyneuropathy is the most common initial symptom, followed by dysautonomia and motor symptoms later in the course of the disease.
Case description: A 70-year-old man with a history of liver transplantation in 2011 for hepatocarcinoma came to the primary health care center for an episode of syncope associated with bladder incontinence and headache, and was referred to the emergency department. On suspicion of epilepsy, he was discharged with antiepileptic medication, which he never started. Afterwards, he was referred multiple times for complaints of right lumbosciatalgia, refractory to analgesic medication, physiotherapy, and acupuncture. After extensive evaluations, he was diagnosed with acquired FAP through a salivary gland biopsy. Being only treated symptomatically, the disease progressed, impairing his autonomy and quality of life, and he ended up dying on the 17th of May 2024.
Comment: In patients who have undergone sequential liver transplantation, the physician should inquire about the appearance of new clinical manifestations at each appointment, particularly urinary or gastrointestinal symptoms, sensory complaints, or changes in muscle strength. The fact that the initial symptoms were sensory, which are often underestimated by both the patient and the doctor, makes this disease a diagnostic challenge and often leads to a delay in diagnosis. We hope that in the future there will be more research into the treatment of this disease, to stop or slow down its progression, which otherwise becomes incapacitating and even fatal.
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