Sequential tendon ruptures in ochronosis: case report

Abstract

<p>Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme that degrades HGA in the tyrosine degradation pathway. Homogentisic acid (HGA) and its metabolites accumulate in the connective tissues leading to dark pigmentation of connective tissue in patients with alkaptonuria. HGA deposits in connective tissue causes weakness of the tendon and subsequent rupture, especially the large tendons in the body. Only few cases are reported in the literature with multiple tendon rupture but many case reports are available with isolated rupture of tendons. We report on a patient with sequential tendon ruptures in a patient. The case is reported for its rarity.</p>

Alkaptonuria in an Elderly Presenting with Asynchronous Rupture of both Quadriceps Tendons and Chronic Kidney Failure: Case Report and Literature Review

“…Treatment options were the same as those with non-pathological QT rupture, with early surgical repair and strict postoperative immobilization. Repair was carried out by either end-to-end direct sutures [ 8 , 9 ], patellar drill [ 10 - 12 ], or suture anchors [ 13 ]. Due to the extensive necrosis, our patient underwent primary end-to-end direct closure with good outcomes.…”

“…The underlying pathophysiology of tendon rupture in AKU can be explained by the inhibition of collagen crosslinking due to deposition of HGA in the connective tissue of tendons, thus decreasing and interfering with the structural integrity of collagen, and eventually, spontaneous rupture and early degeneration of the cartilage [ 11 , 13 ]. This deposition of HGA also explains the dark appearance of the affected tendon and cartilage [ 11 , 13 ].…”

Alkaptonuria with extensive ochronotic degeneration of the Achilles tendon and its surgical treatment: a case report and literature review

“…Asynchronous bilateral rupture of the Achilles tendon has also been reported in some patients with ochronosis [ 13 , 16 , 34 ]. Alkaptonuria is a systemic disease and some cases reported indicate that the incidence of multiple sequential ruptures of various tendons secondary to ochronosis is possible over time [ 35 , 37 ]. Consequently, prophylactic therapy for alkaptonuric ochronosis is needed to avoid subsequent tendon ruptures.…”