Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria

Al-Ajlouni, Jihad; Alisi, Mohammed S; Yasin, Mohamad; Khanfar, Aws; Hamdan, Mohammad; Halaweh, Ahmad Abu; Hawamdeh, Hashem Al; Elessi, Khamis; Alsbou, Mohammad

doi:10.1016/j.artd.2020.07.037

Cited by 12 publications

(7 citation statements)

References 16 publications

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“…An increase in urinary creatine excretion, as well as for taurine, has been observed in destructive and inflammatory muscle disorders [ 52 , 53 ]. The increase in creatine, its precursor guanidinoacetate, and taurine may be ascribed to muscle damage from AKU condition and be connected to the higher risk of muscle complications that AKU patients carry with respect to others with osteoarthritis disease [ 54 , 55 ].…”

Section: Resultsmentioning

confidence: 99%

Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria

Grasso

Geminiani

Galderisi

et al. 2022

IJMS

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Alkaptonuria (AKU) is an ultra-rare metabolic disease caused by the accumulation of homogentisic acid (HGA), an intermediate product of phenylalanine and tyrosine degradation. AKU patients carry variants within the gene coding for homogentisate-1,2-dioxygenase (HGD), which are responsible for reducing the enzyme catalytic activity and the consequent accumulation of HGA and formation of a dark pigment called the ochronotic pigment. In individuals with alkaptonuria, ochronotic pigmentation of connective tissues occurs, leading to inflammation, degeneration, and eventually osteoarthritis. The molecular mechanisms underlying the multisystemic development of the disease severity are still not fully understood and are mostly limited to the metabolic pathway segment involving HGA. In this view, untargeted metabolomics of biofluids in metabolic diseases allows the direct investigation of molecular species involved in pathways alterations and their interplay. Here, we present the untargeted metabolomics study of AKU through the nuclear magnetic resonance of urine from a cohort of Italian patients; the study aims to unravel molecular species and mechanisms underlying the AKU metabolic disorder. Dysregulation of metabolic pathways other than the HGD route and new potential biomarkers beyond homogentisate are suggested, contributing to a more comprehensive molecular signature definition for AKU and the development of future adjuvant treatment.

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Section: Resultsmentioning

confidence: 99%

Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria

Grasso

Geminiani

Galderisi

et al. 2022

IJMS

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“…It has been reported that nitisinone can reduce HGA production and has a therapeutic effect on AKU (17, 18). Surgery is considered feasible for patients with spinal or peripheral large joint involvement to improve the quality of survival (19,20).…”

Section: Discussionmentioning

confidence: 99%

Case report: Thoracolumbar spinal stenosis associated with alkaptonuria

et al. 2023

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BackgroundAlkaptonuria is a rare autosomal genetic disorder with an incidence of about 1 in 1 million per year. Spinal involvement often manifests in the later stages of the disease. However, this is the first report of the presentation of thoracolumbar spinal stenosis.Case presentationWe report the case of a 61-year-old female patient with significant thoracolumbar stenosis symptoms. The patient had obvious kyphosis with preoperative lower extremity muscle strength grade 2/5. Symptoms and imaging signs initially suggested ankylosing spondylitis. This patient was classified into motor incomplete injury (ASIA C). However, the patient was found to have melanin deposits on the sclera and skin, and the urine was darkened at rest. CT and MRI both suggested no bone bridge connection between vertebrae, which was the key difference between ankylosing spondylitis and alkaptonuria in imaging. Most importantly, urine specimen testing and intraoperative pathology demonstrated alkaptonuria. The patient underwent spinal decompression and vertebral body fixation. Postoperative recovery was good: the patient had significantly relieved pain and could stand and walk.ConclusionThis case is the first report of thoracolumbar spinal stenosis associated with alkaptonuria involving the spine.

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“… 33 In another series done by Al-Ajlouni et al involving four hips and four knees followed for 2–10 years, none of these patients at follow-up had prosthesis-related complications. 34 Another surgical concern was increased perioperative complications (including infection, periprosthetic fracture, and wear) compared to non-alkaptonuric patients. However, in a follow-up study done by Pachore et al on 12 hip arthroplasties on patients who were followed for up to 24 years, all involved patients had excellent outcomes, and there were no increased complications noticed.…”

Section: Discussionmentioning

confidence: 99%

“…35 The same findings of no increased complications were reported by Al-Ajlouni et al as well. 34 It is not uncommon for alkaptonuria to be diagnosed intraoperatively during arthroplasty surgery. As in our case, the diagnosis is usually made after visualization of the extensive blackish discoloration of the cartilage and surrounding tissues.…”

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confidence: 99%

Reverse Total Shoulder Arthroplasty in Alkaptonuric Shoulder: Case Presentation, Review of Literature, and Technical Considerations

Dawod¹,

Alswerki²,

Darabah³

et al. 2023

ORR

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Importance Alkaptonuric shoulder arthropathy is a challenging clinical entity in arthroplasty. In this report, we describe an atypical presentation, technical considerations, a literature review, and some recommendations of significant benefits to shoulder surgeons. Objective The author’s objective in this report is to illustrate the deleterious metabolic effects of ochronosis on cartilage and the development of early arthritis. Design This is a case report study, done in May 2021. Setting Middle East, Jordan. Introduction Alkaptonuria is a metabolic disease of amino acid metabolism that can affect multiple organ systems, including the musculoskeletal system. The musculoskeletal system manifestations usually involve the spine, knee, and, uncommonly, the shoulder. Tissue ochronosis caused by alkaptonuria can cause significant damage to the joint and surrounding soft tissue envelope. In this case, we presented a patient who has end-stage glenohumeral arthritis and rotator cuff arthropathy secondary to ochronosis. Case Presentation In this case report, we present a 42-year-old male patient who presented to the clinic with severe right shoulder pain and limitations of the range of motion, especially with abduction. The patient underwent radiographic assessment, which showed a rotator cuff arthropathy combined with advanced degenerative changes of the right glenohumeral joint. The patient underwent reverse total shoulder arthroplasty. After the surgery and on follow-up later on for a period of one year and after a period of physiotherapy and rehabilitation, the patient showed remarkable improvement in the pain and range of motion. Conclusion Alkaptonuria can have a detrimental effect on the articular cartilage and the surrounding soft tissue envelope, which might manifest clinically as early degenerative arthritis changes in a young adult patient. Shoulder involvement is extremely rare and can manifest with substantial injury to the glenohumeral joint; whenever such extensive damage is present, shoulder arthroplasty is the best treatment.

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Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria

Cited by 12 publications

References 16 publications

Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria

Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria

Case report: Thoracolumbar spinal stenosis associated with alkaptonuria

Reverse Total Shoulder Arthroplasty in Alkaptonuric Shoulder: Case Presentation, Review of Literature, and Technical Considerations

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