Arthroscopic diagnosis and treatment of shoulder ochronotic arthropathy – A case report

Abstract

Alkaptonuria is a rare inherited metabolic disorder, caused by the deficiency of homogentisate 1,2 dioxygenase enzyme. The three major features of alkaptonuria are the presence of homogentisic acid in urine, ochronosis (bluish-black pigmentation in connective tissue) and arthritis of the spine and large joints. We present a 48 years old female presented with pain, restriction of movements of right shoulder. Arthroscopy was suggestive of ochronotic arthropathy. The definitive diagnosis of ochronosis was subsequently confirmed by laboratory and pathologic evaluation.

The potential of nitisinone for the treatment of alkaptonuria

“…Physiotherapy, which is aimed at maintaining mobility and reducing the rate of musculoskeletal decline has been utilised [13]. Pain management is frequently administered, although the delivery of any analgesia can be impacted due to the ochronosis of tissues, particularly when considering the spine and shoulders [14][15][16][17][18]. Due to the lack of a disease modifying therapy, ultimately, multiple joint replacements are needed [19][20][21].…”

Short-term results of total shoulder arthroplasty for ochronotic arthritis

“…Alkaptonuria is a rare inherited autosomal recessive disorder caused by a deficiency of homogentisic acid-oxydase enzyme [1, 2]. Prevalence ranges from 1:200,000 to 1:1000,000 [2, 3].…”

“…The deficiency of the enzyme results in deposition of homogentisic acid pigment in connective tissues, also called ochronosis [4]. Ochrontic pigment deposition in joints results in black discoloration of the cartilage [1, 5]. Large joint osteoarthritis (hip, knee and shoulder) develops after the third decade; peak incidence of ochronotic arthropathy is the fifth decade [1, 3].…”

“…Ochrontic pigment deposition in joints results in black discoloration of the cartilage [1, 5]. Large joint osteoarthritis (hip, knee and shoulder) develops after the third decade; peak incidence of ochronotic arthropathy is the fifth decade [1, 3]. The knee joint is affected most, followed by hip and shoulder.…”

“…There is no specific medical treatment that cures the disease [1, 5]. Currently, treatment consists of a protein-restricted diet, with restriction of foods containing phenylalanine and tyrosine.…”