Crohn's disease in hemophilic arthropathy patient: a case report.

Crohn's disease (CD) is an inflammatory bowel disease affecting the digestive tract, the incidence of which is on the rise worldwide. The most common clinical manifestation of hemophilia is arthropathy secondary to recurrent joint effusions and chronic synovitis. This article reports on a rare 25-year-old male patient with both hemophilic arthropathy and Crohn's disease who was at risk for pathogenic gastrointestinal bleeding. After undergoing endoscopic pathologic testing and genetic testing, a multidisciplinary expert work-up of a treatment and nutritional plan was performed. The patient improved clinically and adhered to conservative treatment. This case report is the first report of this rare co-morbidity, demonstrating the highly pathogenic mutation locus and summarizing the clinical experience of early diagnosis and treatment.

Arthrofibrosis of the knee in pediatric orthopedic surgery.

Arthrofibrosis is a challenging complication associated with knee injuries in both children and adults. While much is known about managing arthrofibrosis in adults, it is necessary to understand its unique aspects and management strategies in the pediatric population. This paper provides an overview of arthrofibrosis in pediatric orthopedic surgery, focusing on its causes, implications, classifications, and management. This paper is a comprehensive review of the literature and existing research on arthrofibrosis in pediatric patients. Arthrofibrosis is characterized by excessive collagen production and adhesions, leading to restricted joint motion and pain. It is associated with an immune response and fibrosis within and around the joint. Arthrofibrosis can result from various knee injuries in pediatric patients, including tibial spine fractures, ACL and PCL injuries, and extra-articular procedures. Technical factors at the time of surgery play a role in the development of motion loss and should be addressed to minimize complications. Preventing arthrofibrosis through early physical therapy is recommended. Non-operative management, including dynamic splinting and serial casting, has shown some benefits. New pharmacologic approaches to lysis of adhesions have shown promise. Surgical interventions, consisting of arthroscopic lysis of adhesions (LOA) and manipulation under anesthesia (MUA), can significantly improve motion and functional outcomes. Arthrofibrosis poses unique challenges in pediatric patients, demanding a nuanced approach that includes prevention, early intervention with non-operative means, and improvements in surgical techniques. Modern pharmacological interventions offer promise for the future. Customized interventions and research focused on pediatric patients are critical for optimal outcomes.

La artrofibrosis es una complicación difícil asociada con lesiones de rodilla tanto en niños como en adultos. Si bien se sabe mucho sobre el manejo de la artrofibrosis en adultos, es necesario comprender sus aspectos únicos y estrategias de manejo en la población pediátrica. Este documento proporciona una visión general de la artrofibrosis en la cirugía ortopédica pediátrica, centrándose en sus causas, implicaciones, clasificaciones y manejo. Este documento es una revisión completa de la literatura y la investigación existente sobre artrofibrosis en pacientes pediátricos. La artrofibrosis se caracteriza por una producción excesiva de colágeno y adherencias, lo que conduce a un movimiento articular restringido y dolor. Se asocia con una inmunorrespuesta y fibrosis dentro y alrededor de la articulación. La artrofibrosis puede ser el resultado de varias lesiones de rodilla en pacientes pediátricos, incluyendo fracturas de columna tibial, lesiones de LCA y LCP, y procedimientos extraarticulares. Los factores técnicos en el momento de la cirugía desempeñan un papel en el desarrollo de la pérdida de movimiento y deben abordarse para minimizar las complicaciones. Se recomienda prevenir la artrofibrosis a través de la fisioterapia temprana. La gestión no operativa, incluyendo el empalme dinámico y la fundición en serie, ha mostrado algunos beneficios. Los nuevos enfoques farmacológicos a la lisis de adherencias han demostrado ser prometedores. Las intervenciones quirúrgicas, consistentes en lisis artroscópica de adherencias (LOA) y manipulación bajo anestesia (MUA), pueden mejorar significativamente el movimiento y los resultados funcionales. La artrofibrosis plantea desafíos únicos en los pacientes pediátricos, exigiendo un enfoque matizado que incluye prevención, intervención temprana con medios no operatorios y mejoras en las técnicas quirúrgicas. Las intervenciones farmacológicas modernas ofrecen una promesa para el futuro. Las intervenciones e investigaciones personalizadas centradas en pacientes pediátricos son fundamentales para obtener resultados óptimos.

AAV mediated repression of Neat1 lncRNA combined with F8 gene augmentation mitigates pathological mediators of joint disease in haemophilia.

Haemophilic arthropathy (HA), a common comorbidity in haemophilic patients leads to joint pain, deformity and reduced quality of life. We have recently demonstrated that a long non-coding RNA, Neat1 as a primary regulator of matrix metalloproteinase (MMP) 3 and MMP13 activity, and its induction in the target joint has a deteriorating effect on articular cartilage. In the present study, we administered an Adeno-associated virus (AAV) 5 vector carrying an short hairpin (sh)RNA to Neat1 via intra-articular injection alone or in conjunction with systemic administration of a capsid-modified AAV8 (K31Q) vector carrying F8 gene (F8-BDD-V3) to study its impact on HA. AAV8K31Q-F8 vector administration at low dose, led to an increase in FVIII activity (16%-28%) in treated mice. We further observed a significant knockdown of Neat1 (~40 fold vs. untreated injured joint, p = 0.005) in joint tissue of treated mice and a downregulation of chondrodegenerative enzymes, MMP3, MMP13 and the inflammatory mediator- cPLA2, in mice receiving combination therapy. These data demonstrate that AAV mediated Neat1 knockdown in combination with F8 gene augmentation can potentially impact mediators of haemophilic joint disease.

The efficacy of vitamin E in preventing arthrofibrosis after joint replacement.

BACKGROUND: Arthrofibrosis is a joint disorder characterized by excessive scar formation in the joint tissues. Vitamin E is an antioxidant with potential anti-fibroblastic effect. The aim of this study was to establish an arthrofibrosis rat model after joint replacement and assess the effects of vitamin E supplementation on joint fibrosis. METHODS: We simulated knee replacement in 16 male Sprague-Dawley rats. We immobilized the surgical leg with a suture in full flexion. The control groups were killed at 2 and 12 weeks (n = 5 per group), and the test group was supplemented daily with vitamin E (0.2 mg/mL) in their drinking water for 12 weeks (n = 6). We performed histological staining to investigate the presence and severity of arthrofibrosis. Immunofluorescent staining and α2-macroglobulin (α2M) enzyme-linked immunosorbent assay (ELISA) were used to assess local and systemic inflammation. Static weight bearing (total internal reflection) and range of motion (ROM) were collected for functional assessment. RESULTS: The ROM and weight-bearing symmetry decreased after the procedure and recovered slowly with still significant deficit at the end of the study for both groups. Histological analysis confirmed fibrosis in both lateral and posterior periarticular tissue. Vitamin E supplementation showed a moderate anti-inflammatory effect on the local and systemic levels. The vitamin E group exhibited significant improvement in ROM and weight-bearing symmetry at day 84 compared to the control group. CONCLUSIONS: This model is viable for simulating arthrofibrosis after joint replacement. Vitamin E may benefit postsurgical arthrofibrosis, and further studies are needed for dosing requirements.

Late Presentation of Primary Oxalosis, Microcrystalline Arthropathy, and Tumoral Calcinosis: A Case Report and a Literature Review.

BACKGROUND: Primary hyperoxaluria consists of a group of inherited disorders with enzymatic defects in the glyoxylate pathway, leading to decreased oxalate metabolism. The resulting oxalic deposition is specifically responsible for kidney disease and joint disease. Neonatal oxalosis is the most severe form of primary hyperoxia type 1, with the onset of end-stage renal disease in childhood. CASE PRESENTATION: A 55-year-old hemodialysis man was referred to Nephrology because of inflammatory polyarthralgia and periarticular swelling evolving for six months. He had been on hemodialysis for six years for end-stage chronic renal failure, diagnosed at the same time as primary hyperoxaluria. Radiological investigation showed a rugby jersey appearance on the lumbar spine, budding calcium tone opacities next to large joints and clavicles, vascular calcifications and tumoral calcinosis. The synovial fluid contained a few cells with polymorphic intracellular crystals. We ruled out hyperparathyroidism, hypoparathyroidism, and related phosphocalcic disorders, and we retained arthropathy and tumoral calcinosis secondary to primary hyperoxaliuria. The patient also had congestive heart failure. Despite intensification of hemodialysis, he did not improve and died at the age of 56 in the context of cachexia. CONCLUSION: This rare case documents the possible occurrence of late clinical presentation and long survival in primary oxalosis with extra renal complications.

Low-Dose Irradiation and Rotating-Hinge Revision for the Treatment of Severe Idiopathic Arthrofibrosis Following Total Knee Arthroplasty: A Review of 60 Patients With a Mean 6-Year Follow-Up.

BACKGROUND: Severe idiopathic arthrofibrosis after total knee arthroplasty (TKA) is a challenging problem to treat. Low-dose irradiation may decrease fibro-osseous proliferation, while rotating-hinge (RH) revision allows for distal femur shortening and collateral ligament sacrifice. This study reports the clinical outcomes and implant survivorship in patients treated with low-dose irradiation and RH revision for severe idiopathic arthrofibrosis following TKA. METHODS: A retrospective review was performed on 60 consecutive patients. Patients who had greater than 80° arc of knee motion or less than 15° flexion contracture were excluded. Mean follow-up was 6 years (range, 2 to 14). Kaplan-Meier survivorship analyses were performed, and logistic regressions were used to determine associations between preoperative patient characteristics and clinical outcomes. RESULTS: Median flexion contracture and median terminal flexion at presentation were 20 and 70°, respectively; at final follow-up, 59 of 60 patients (98%) had ≤10° flexion contracture and 49 of 60 patients (82%) had ≥90° of flexion. The 10-year survivorship free from reoperation for any reason, revision for any reason, and revision for aseptic loosening were 63, 87, and 97%, respectively. There were 27% percent of patients who underwent a manipulation under anesthesia postoperatively, which was the most common reason for return to the operating room. A greater number of prior surgeries was significantly associated with worse range of motion at the final follow-up (P = .004). There were no known radiation-associated complications. CONCLUSIONS: Patients with severe idiopathic arthrofibrosis following TKA treated with low-dose irradiation and RH revision maintained a gain in knee range of motion of 60° with reliable flexion contracture correction at a mean 6-year follow-up. A manipulation under anesthesia was common in the postoperative period. Survivorship free from revision for aseptic loosening was excellent at 10 years.

Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding.

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by a deficiency of glycosaminoglycan (GAG) catalytic enzymes, resulting in an accumulation of unprocessed or partly degraded GAGs in different tissues, including bones and joints. Notably, skeletal and joint abnormalities may be the first complaint that prompts patients to seek medical attention, especially in the milder forms of the disease. To our knowledge, there are no prior imaging reports that have documented capsuloligamentous thickening in patients with MPS on MRI. In this study, we present four cases of patients with clinically and genetically confirmed diagnosis of type II MPS, encompassing seven MRI examination of different joints, including cervical spine, hip, wrist, knee, and shoulder. All of the patients were male, aged between 14 and 35 years, and exhibited varying degrees of joint stiffness in the clinical examination and carpal tunnel syndrome in cases of the wrist joint was affected. None of the patients had a history of surgical procedures on the affected joint, other metabolic or deposit diseases, or sports activity practice. The MRI revealed significant capsuloligamentous and retinaculum thickening, up to eight times greater than the normal capsular thickness reported in the literature.

Ankle arthrodesis and total ankle replacement in patients with congenital bleeding disorders suffering from severe ankle arthropathy.

INTRODUCTION: In patients with congenital bleeding disorders suffering from severe ankle arthropathy, when conservative treatment and joint-preserving surgical techniques fail, there are two possible non-joint-preserving options: ankle arthrodesis (AA) and total ankle replacement (TAR). AREAS COVERED: The scope and aim of this article was to analyze the current role of AA and TAR in patients with congenital bleeding disorders suffering from severe ankle arthropathy. EXPERT OPINION: In patients with congenital bleeding disorders, both TAR and AA provide good results, mainly in terms of pain relief, although they are not exempt from complications (between 0% and 33% in TAR and between 5% and 23.5% in AA). The current controversy about which of the two surgical techniques, TAR or AA, gives better results, the current literature is not able to resolve it in patients with congenital bleeding disorders. While this question is being answered, my opinion regarding patients with congenital bleeding disorders is that the age of the patient must be taken into account. Given known prosthetic survival rates, the older the patient, the more we might be inclined to indicate TAR. Conversely, AA may be more appropriate for relatively young patients.

Manipulation Under Anesthesia is Safe and Effective for Management of Early Postoperative Knee Arthrofibrosis in Adolescent Patients.

BACKGROUND: Management of postoperative knee arthrofibrosis can be challenging and the preferred time for intervention remains controversial. The purpose of this study is to evaluate the safety and efficacy of early (<3 mo postoperatively) manipulation under anesthesia (MUA) for the treatment of knee arthrofibrosis in adolescent patients. We hypothesized that early MUA could restore normal knee motion with a low complication rate and without the need for more invasive intervention. METHODS: In a retrospective review, 57 patients who underwent MUA for postoperative knee arthrofibrosis were identified. The time between the index surgery and MUA as well as changes in range of motion (ROM) before and after MUA were analyzed. Descriptive statistics with median and interquartile range were used to analyze this non-parametric study cohort. Repeated measures ANOVA was performed to assess improvement in ROM over time. A P value <0.05 denoted statistical significance. RESULTS: The median age of the cohort at time of MUA was 14.5 years [interquartile range (IQR) 12.9 to 17.6)]. 54.4% were male. Median time to MUA was 64 days (IQR 52 to 79) after index surgery. ROM before MUA was 90.0 degrees (IQR 75 to 100), which improved to 130 degrees (120 to 135) after MUA. At final median follow-up of 8.9 months (IQR 5.1 to 16.1), mean ROM was 133 degrees (130 to 140). There were no iatrogenic fractures or physeal separations associated with MUA. 12.3% (n=7/57) failed MUA either due to the need for subsequent repeat MUA (n=2), need for lysis of adhesions (n=3) or need for surgery after MUA (n=2). Those who failed early MUA and required subsequent procedures had ROM >120 degrees at final follow-up. CONCLUSIONS: Postoperative knee arthrofibrosis can be safely and effectively treated with early (<3 mo postoperative) MUA. There were no iatrogenic fractures or physeal separations during MUA. Patients who had recurrence of motion deficits after early MUA and required further intervention, regained satisfactory knee motion at final follow-up. Although further research is warranted to better characterize risk factors for knee arthrofibrosis in adolescent patients, early recognition and MUA is a safe and effective treatment for arthrofibrosis to help patients regain full ROM without invasive intervention. LEVEL OF EVIDENCE: Therapeutic Study - Level IV.

Arthrofibrosis After Total Knee Arthroplasty: A Critical Analysis Review.

¼ Arthrofibrosis after total knee arthroplasty (TKA) is the new formation of excessive scar tissue that results in limited ROM, pain, and functional deficits.¼ The diagnosis of arthrofibrosis is based on the patient's history, clinical examination, absence of alternative diagnoses from diagnostic testing, and operative findings. Imaging is helpful in ruling out specific causes of stiffness after TKA. A biopsy is not indicated, and no biomarkers of arthrofibrosis exist.¼ Arthrofibrosis pathophysiology is multifactorial and related to aberrant activation and proliferation of myofibroblasts that primarily deposit type I collagen in response to a proinflammatory environment. Transforming growth factor-beta signaling is the best established pathway involved in arthrofibrosis after TKA.¼ Management includes both nonoperative and operative modalities. Physical therapy is most used while revision arthroplasty is typically reserved as a last resort. Additional investigation into specific pathophysiologic mechanisms can better inform targeted therapeutics.

Arthroscopic treatment of ankle impingement syndrome.

Arthroscopic treatment of ankle impingement syndrome (AIS) is a minimally invasive surgical procedure used to address symptoms caused by impingement in the ankle joint. This syndrome occurs when there is abnormal contact between certain bones or soft tissues in the ankle, leading to pain, swelling, or limited range of motion. Traditionally, open surgery was the standard approach for treating AIS. However, with advancements in technology and surgical techniques, arthroscopic treatment has become a preferred method for many patients and surgeons. With improved visualization and precise treatment of the arthroscopy, patients can experience reduced pain and improved functionality, allowing them to return to their daily activities sooner. In this paper, we reviewed the application and clinical efficacy the of arthroscopic approach for treating AIS, hoping to provide a reference for its future promotion.

The role of intraarticular injections of hyaluronic acid in joint pain relief in hemophilic arthropathy.

INTRODUCTION: Chronic pain in hemophilic patients is due to joint degeneration associated with hemophilic arthropathy. In addition to appropriate hematological treatment (primary prophylaxis), pharmacologic management and Physical Medicine and Rehabilitation should be indicated. When such measures are not sufficient, intraarticular injections (IAIs) of hyaluronic acid (HyA) may be considered. AREAS COVERED: In order to determine whether IAIs of HyA are effective in terms of pain relief in individuals with painful moderate hemophilic arthropathy, a PubMed and Cochrane Library search using 'hemophilia hyaluronic acid' as keywords was performed on 18 July 2023. EXPERT OPINION: In a study of individuals with hemophilic arthropathy (elbows, knees and ankles), 91% of them improved pain after a mean follow-up of 6 years. In another study of individuals with knee arthropathy, after a 7-year follow-up 82% reported an improvement in pain. As for hemophilic ankle arthropathy, in a study 67% of patients showed relief of joint pain at 6-month follow-up. Although the literature on the subject is very heterogeneous and difficult to interpret, it appears that IAIs of HyA can relieve the joint pain of painful moderate hemophilic arthropathy for months. Moreover, the IAIs can be repeated every 6-12 months.

Comparison of Outcomes After Reverse Total Shoulder Arthroplasty in Patients With Proximal Humerus Fractures Versus Rotator Cuff Arthropathy.

INTRODUCTION: Indications for reverse total shoulder arthroplasty (rTSA) has expanded to encompass complex proximal humerus fractures (PHFs) in recent years. The purpose of this study was to report and assess whether PHF patients treated with rTSA could achieve similar functional outcomes and short-term survivorship to patients who underwent rTSA for rotator cuff arthropathy (RTCA). METHODS: All consecutive patients with a preoperative diagnosis of PHF or RTCA, 18 years or older, treated with rTSA at a single academic institution between 2018 and 2020 with a minimum 2-year follow-up were retrospectively reviewed. Primary outcomes were survivorship defined as revision surgery or implant failure analyzed using the Kaplan-Meier survival curve, and functional outcomes, which included Quick Disabilities of the Arm, Shoulder, and Hand, and range of motion (ROM) were compared at multiple follow-up time points up to 2 years. Secondary outcomes were patient demographics, comorbidities, surgical data, length of hospital stay, and discharge disposition. RESULTS: A total of 48 patients were included: 21 patients (44%) were diagnosed with PHF and 27 patients (56%) had RTCA. The Kaplan-Meier survival rate estimates at 3 years were 90.5% in the PHF group and 85.2% in the RTCA group. No differences in revision surgery rates between the two groups (P = 0.68) or survivorship (P = 0.63) were found. ROM was significantly lower at subsequent follow-up time points in multiple planes (P < 0.05). A greater proportion of patients in the PHF group received cement for humeral implant fixation compared with the RTCA group (48% versus 7%, P = 0.002). The mean length of hospital stay was longer in PHF patients compared with RTCA patients (2.9 ± 3.8 days versus 1.6 ± 1.8 days, P = 0.13), and a significantly lower proportion of PHF patients were discharged home (67% versus 96%, P = 0.015). CONCLUSION: The rTSA implant survivorship at 3 years for both PHF and RTCA patients show comparable results. At the 2-year follow-up, RTCA patients treated with rTSA were found to have better ROM compared with PHF patients.

Clinical disease activity index applicability in lupus arthropathy: Unraveling underdiagnosed joint activity.

INTRODUCTION: Lupus arthropathy (LA) ranges from arthralgia and non-deforming arthritis to severe forms such as Jaccoud-type deformities and mutilating arthritis. Considering the evolving concept of LA, measuring arthritis activity in lupus patients may require a more practical and sensitive tool other than the classical composite scores. METHODS: In this cross-sectional study, we evaluated the articular pattern of a sample of SLE patients which were divided into those that scored in articular domain on Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) and those with activity arthritis using the Clinical Disease Activity Index (CDAI). After all, we analyzed the association between CDAI and arthritis by SLEDAI-2K as well as its association with the presence or not of Jaccoud-type arthropathy (JA). RESULTS: A total of 127 patients with SLE were evaluated. According to SLEDAI-2K, 17 (13.4%) patients have scored in its joint criteria and 32 patients (25.19%) were considered to have some articular activity by CDAI. A total of 16 patients (50%) who scored some activity on CDAI did not score in articular domain of SLEDAI-2K. Also, the presence of Jaccoud-type arthropathy was significantly associated with arthritis activity according to the CDAI score (p = .014) but not with SLEDAI-2K joint criteria (p = .524). CONCLUSION: The CDAI was not directly associated with the presence of arthritis by the joint criteria of SLEDAI-2K and the presence of JA was significantly associated with the CDAI but not with arthritis at SLEDAI-2K.

Arthroscopic Lysis of Adhesions for Arthrofibrosis After Anterior Cruciate Ligament Reconstruction.

BACKGROUND: Arthrofibrosis (AF) after anterior cruciate ligament reconstruction (ACLR) remains a challenge. There is a paucity of data on arthroscopic interventions for AF after ACLR. PURPOSE: To (1) describe the patient, injury, and surgical characteristics and patient-reported outcomes (PROs) of those requiring an arthroscopic intervention for loss of motion after ACLR and (2) compare outcomes between patients undergoing an early intervention (within 3 months) versus those undergoing a late intervention (after 3 months). STUDY DESIGN: Case series; Level of evidence, 4. METHODS: Patients with a history of ACLR and a subsequent operative procedure for postoperative AF at a single institution between 2000 and 2018 were retrospectively identified. Arthroscopic interventions included lysis of adhesions, capsular release with or without manipulation under anesthesia, and excision of cyclops lesions. Patients were excluded if they had a knee dislocation or multiple-ligament injury, a periarticular fracture, or less than 2-year follow-up from the arthroscopic intervention. PROs including the Tegner activity score, visual analog scale pain score, and International Knee Documentation Committee score as well as knee range of motion (ROM) were recorded. RESULTS: A total of 40 patients were included with a mean age of 27.2 years (range, 11.0-63.8 years) at surgery and a mean follow-up of 10.0 years (range, 2.9-20.7 years). The mean preoperative flexion and extension were 102° (range, 40°-150°) and 8° (range, 0°-25°), respectively. The mean postoperative flexion and extension were 131° (range, 110° to 150°) and 0° (range, -10° to 5°), respectively. After the arthroscopic intervention, the mean ROM improved from 94° (range, 40°-140°) preoperatively to 131° (range, 107°-152°) at final follow-up (P < .001), and the visual analog scale pain score improved from 3.0 preoperatively to 1.2 postoperatively (P = .001). Overall, 13 patients (32.5%) underwent an intervention within 3 months and 27 (67.5%) after 3 months. The early intervention group had a higher postoperative International Knee Documentation Committee score compared with the late intervention group (86.8 vs 71.7, respectively; P = .035). CONCLUSION: An arthroscopic intervention for AF after ACLR successfully improved knee ROM and pain. Patients who underwent either early or late surgery obtained satisfactory motion and function, although improved PROs were observed when the intervention occurred within 3 months of the primary procedure.

Overview of Ankle Arthropathy in Hereditary Hemochromatosis.

Hereditary hemochromatosis (HH) is an autosomal recessive bleeding disorder characterized by tissue overload of iron. Clinical systemic manifestations in HH include liver disease, cardiomyopathy, skin pigmentation, diabetes mellitus, erectile dysfunction, hypothyroidism, and arthropathy. Arthropathy with joint pain is frequently reported at diagnosis and mainly involves the metacarpophalangeal and ankle joints, and more rarely, the hip and knee. Symptoms in ankle joints are in most cases non-specific, and they can range from pain and swelling of the ankle to deformities and joint destruction. Furthermore, the main radiological signs do not differ from those of primary osteoarthritis (OA). Limited data are available in the literature regarding treatment; surgery seems to be the gold standard for ankle arthropathy in HH. Pharmacological treatments used to maintain iron homeostasis can also be undertaken to prevent the arthropathy, but conclusive data are not yet available. This review aimed to assess the ankle arthropathy in the context of HH, including all its aspects: epidemiology, physiopathology, clinical and imaging presentation, and all the treatments available to the current state of knowledge.

Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.

Inborn metabolic diseases (IMD) are rare conditions that can be diagnosed during adulthood. Patients with IMD may have joint symptoms and the challenge is to establish an early diagnosis in order to institute appropriate treatment and prevent irreversible damage. This review describes the joint manifestations of IMD that may be encountered in adults. The clinical settings considered were arthralgia and joint stiffness as well as arthritis. Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in relation with alkaptonuria, and progressive joint stiffness may correspond to a mucopolysaccharidosis or mucolipidosis. Gaucher disease is initially revealed by painful acute attacks mimicking joint pain described as "bone crises". Some IMD may induce microcrystalline arthropathy. Beyond classical gout, there are also gouts in connection with purine metabolism disorders known as "enzymopathic gouts". Pyrophosphate arthropathy can also be part of the clinical spectrum of Gitelman syndrome or hypophosphatasia. Oxalate crystals arthritis can reveal a primary hyperoxaluria. Destructive arthritis may be indicative of Wilson's disease. Non-destructive arthritis may be seen in mevalonate kinase deficiency and familial hypercholesterolemia.

Posterior Ankle Impingement.

This article is devoted to managing posterior ankle impingement syndrome and its management using endoscopic to arthroscopic surgical instrumentation. The authors explore the critical anatomy, pathogenesis, and clinical examination. Operative techniques, including the approach, and instrumentation used, are outlined. The postoperative protocol is discussed. Finally, a literature review is provided, which also defines known complications.