Andrade's Amyloidosis: Case report

Abstract

Objective: Andrade's disease (transthyretin familial amyloidotic polyneuropathy) is a rare, hereditary, autosomal dominant disease characterized by mutation of a protein called transthyretin. It is synthesized mainly in the liver and deposited as amyloid, affecting the kidney, heart, CNS and vitreous humor. Worldwide prevalence is estimated at 1/10,000 inhabitants and in Europe at 1/100,000 inhabitants. There is a family history in 85% of cases and it manifests in the third decade of life. The average survival without treatment is 10 years, with cardiac and renal involvement, malnutrition and infections being the main causes of death. Renal involvement occurs in 50% of cases, less than 10% develop renal failure. In cardiac disorders, conduction disorders are common and progressive. Clinical case: Male patient, 73 years old, with a history of systemic arterial hypertension, who was evaluated in the neurology unit, presenting weakness and paresthesia in lower limbs, forgetfulness, inattention, dysnomia for faces, without disorientation and/or confusion. MRI of the brain, with involutive cortico-subcortical changes, suggestive of vasogenic microangiopathy. EMG compatible with sensory-motor polyneuropathy of lower limbs. Holter compatible with ventricular tachycardia, in addition to a transthoracic echocardiogram with findings of biventricular dilated cardiomyopathy with strain pattern with apical deterioration suggestive/compatible with amyloidosis, restrictive/infiltrative cardiomyopathy. He was admitted with decompensated CHF and stage 3b-4 CKD (baseline creatinine 2.4). Conclusion: To date, no cases of Andrade's amyloidosis have been described in Venezuela, which makes its disclosure valuable for understanding this disease and stimulating future research to achieve an early diagnosis and adequate therapy.