Abstract

Ochronotic arthropathy and its consequences in a middle age man: a case report

Author(s): Pedro Weingrill1*, Anair Catarina Marconato2†, Vívian Santana Alves2† and André Luiz Gomes3

Alkaptonuria is a rare autosomal recessive disorder characterized by a deficiency of the enzyme homogentisate oxidase, leading to the accumulation of homogentisic acid (HGA) in the body. This accumulation results in symptoms such as darkening of the urine and deposition of pigments in various tissues, including joints, ears, and sclerae, a condition known as ochronosis. In this case report, we present a 47-year-old man who sought care at a Family Health Unit with complaints of arthralgia and dark spots on various parts of his body. The patient was diagnosed with alkaptonuria after a lengthy history of symptoms and medical investigations, culminating in complications such as Achilles tendon rupture and diagnosis of Diffuse Large B-Cell Lymphoma. Despite successful chemotherapy treatment for the lymphoma, the patient continues to face significant challenges related to alkaptonuria, including joint pain and physical limitations.