P095 Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome: a case report

Background Camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome is a rare genetic disorder with autosomal recessive transmission including camptodactyly, synovial hyperplasia-related arthropathy, progressive coxa vara deformity and non-inflammatory pericarditis. We report the observation of a case. Observation S.Y aged 8.5 years, from a consanguineous marriage, presented with a chronic arthropathy affecting wrists, knees and ankles that had been evolving for 6 years and currently, elbows are also affected. The history includes surgery for claw deformity of the hands at the age of 3. No similar cases in the family. Osteoarticular examination showed symmetrical swelling of the elbows, wrists (Fig. 1),knees (Fig. 2) and ankles (Fig. 3.The affected joints were neither red, painful nor warm on palpation, with normal mobility. The onset of symptoms could not be determined due to the indolence of the condition and the rest of the clinical examination was unremarkable. Discussion CACP syndrome is a more common condition in the Middle East and North Africa, with about 20 cases reported worldwide. This syndrome is still poorly understood and is often confused with juvenile idiopathic arthritis. It should be suspected in the presence of any congenital claw deformity of the hands (camptodactyly) with a chronic non-inflammatory arthropathy, which are constant signs. Coxa-vara and pericarditis (found respectively in 60 and 30% of cases) should be systematically sought. The consanguinity reported in the literature is also present in our case. However, there are no similar cases in siblings. The diagnosis is important, thus avoiding the initiation of unnecessary treatments such as corticosteroids, DMARDs or biotherapy. Biology no inflammatory syndrome, FAN negatives. Standard X-ray of the pelvis presence of a coxa-vara on the right Joint ultrasound common tenosynovitis of the extensors of the fingers, effusion with synovial hypertrophy without a Doppler catch of the elbows, knees and ankles Myelogram without abnormality. Cardiac ultrasound without pericarditis. The diagnosis of CACP was made in view of: a history of camptodactyly, chronic non-inflammatory arthropathy and coxa-vara. Analgesic treatment was instituted in case of pain, with cardiac monitoring by ultrasound every 6 months. Conclusion CACP syndrome is a rare disease often confused with juvenile idiopathic arthritis. Congenital camptodactyly and non-inflammatory arthropathy are very evocative of the diagnosis. The absence of similar cases in siblings makes our observation special.

Cervical vertebrae affection in calcium pyrophosphate crystal deposition disease (description of a clinical case)

Calcium pyrophosphate deposition disease (CPPD) is characterized by polymorphism of clinical manifestations: from asymptomatic course to severe chronic arthropathy with destruction of bone structures. It is believed that calcium pyrophosphate crystals are more often found in the knee and so-called root joints (hip and shoulder), as well as in the triangular fibro-cartilaginous complex. However, CPPD can also affect the axial skeleton. A pathological process localized in the spine is more common in older people and is rare at a young age. The article presents a case of chondrocalcinosis of the cervical spine in a 62-year-old female patient who did not have risk factors.

Unanticipated Difficult Airway Management in a Trauma Partient with Severe Ankylosing Spondylitis

Ankylosing Spondylitis is a debilitating chronic arthropathy that affects multiple joints. Anaesthesiologists face significant challenges when dealing with the airway implications of this disease, especially when it is unanticipated that a difficult airway may be encountered. This case describes a 42-year-old trauma victim who required an emergency denitive trachea at his ward. Ankylosing Spondylitis and complex airway anatomy led to his intubation failure. He was eventually given an emergency surgical tracheostomy. The successful management of a difficult airway was possible thanks to the appropriate use of modern airway adjuncts as well as workplace soft skills.

Juvenile Ankylosing Spondylitis - Associated Uveitis

Juvenile ankylosing spondylitis is a chronic arthropathy that predominantly affects boys after the age of 10 years. We report a clinical case of a 16 years old aged male, who presented in the emergency room with a painful red eye, severe photophobia, and tearing right eye. The slit lamp examination was showing unusual anterior uveitis with hypopyon. The visual acuity was 2/10 in the right eye. The slit lamp examination of the left eye was unremarkable. The clinical results were in favour of Juvenile ankylosing spondylitis (Figure 1).

Case Report: Ochronotic Arthropathy

Ochronosis is a rare metabolic disease caused by the deficiency of the homogentisic acid oxidase enzyme. It gives clinical findings related to the accumulation of homogentisic acid in soft tissues and excretion in urine. Patients with chronic arthropathy usually have some joint pain and inflammatory back pain. Although axial involvement radiologically resembles ankylosing spondylitis (AS), it is differentiated by the absence of typical syndesmophytes, facet involvement, sacroiliac erosion and fusion.Although there is no effective treatment for ochronosis disease; our patient was given a protein-poor diet, vitamin C supplementation (100 mg/kg/day) and analgesic treatment for symptoms recommended in the literature; and a reduction in joint complaints was observed. In this case, the aim is to diagnose the rare ochronotic arthropathy followed with the diagnosis of AS and to show that both axial and peripheral joint involvement can be together in this disease.

Tranexamic Acid - Major Antifibrinolytic Agent Used to Achieve Hemostasis in Hemophilic Patients with Anti-Factor VIII Anti-Bodies Who Must Undergo Total Joint Replecement

Hemophilia is a congenital coagulopathy characterized by a deficiency of coagulation factor VIII or IX. The main complication of this hemopathy is represented by the hemorrhagiparous phenomena that affect mainly the musculoskeletal system. Of the various chronic complications of this condition, hemarthrosis is responsible for the onset of chronic arthropathy, which is a disabling condition. In addition to hematologist-prescribed coagulation factor replacement therapy, acute hemarthrosis and chronic arthropathy management requires close collaboration with both orthopedic surgeons and physiotherapists. This multidisciplinary collaboration is essential both to prevent the onset of hemarthroses and to manage acute bleeding episodes, to assess joint function and to effectively treat hemophilic chronic arthropathy. Hemophilic arthropathy causes significant joint instability and reduced mobility or even total ankylosis, which may lead to permanent disability and hence to a decrease in the patient�s quality of life. From an orthopedic point of view, disabling hemophilic arthropathy may be treated by surgery. Achieving effective hemostasis is vital in order to be able to perform these extremely difficult surgical procedures, due to the high risk of bleeding. This paper aims at highlighting the hemostatic efficacy of tranexamic acid in orthopedic surgery in hemophilic patients who must undergo total joint replacement.

Crystal arthritis

Many different crystal types can form in the body and potentially cause acute synovitis, chronic arthropathy, or periarticular syndromes. The most common and clinically relevant crystals are monosodium urate, the causative agent in gout, and calcium pyrophosphate, both of which commonly affect the foot and ankle. Foot involvement, particularly the first metatarsophalangeal joint, is the clinical hallmark of gout.

Current Trend of Invasive Orthopaedic Interventions for People with Haemophilia in Romania: Single Centre Experience

Objective In countries with low factor concentrate consumption, disabling joint disease remains the major morbidity in patients with haemophilia. The objective of the present analysis is to express the trend and profile of invasive orthopaedic interventions in our country with low usage of factor replacement, lacking the prophylaxis program until recent years. Patients and Methods This retrospective descriptive study was conducted in our university centre in Timisoara with long-lasting experience in haemophilia care, which succeeded in developing an exceptionally valuable genuine comprehensive inter-institutional cooperation. This study refers to 115 invasive interventions performed on 97 patients: 83 with haemophilia A, 10 with haemophilia B and 4 with von Willebrand disease in the period of 2001 to 2017; 17 of them had inhibitors, 5 developing inhibitors after the intervention. Results and Discussion The cohort of patients consisted mostly of young adults, aged between 7 and 49 years. The vast majority of them, 91.3% of the patients, had the burden of severe chronic arthropathy. This was the reason for 95 interventions, with programmed solution. In 20 cases the cause of invasive interventions was emergency. Knee and hip replacement represented 28% of the major interventions. The complications we encountered were excessive bleeding (12.2%), infection (13%) and inhibitor development (4.3%). Conclusion Surgery is a demanding intervention in patients with haemophilia, which unfortunately cannot be ignored in our country. Hopefully, the improved availability and accessibility to replacement therapy will eliminate the necessity of these interventions, optimizing the outcomes for the next generations.