Catastrophic Antiphospholipid Syndrome Presenting as Diffuse Peripheral and Central Thromboses

Case report - Introduction: Catastrophic Antiphospholipid Syndrome (cAPS) is the most severe form of antiphospholipid syndrome with a high mortality;it is characterised by multiorgan involvement that develops within a short time frame and usually consists of microvascular thrombosis. We present the case of a 50-year-old lady with recurrent microvascular and macrovascular thromboses who was initially treated with endovascular stents and amputation progressing to require immunosuppression and anticoagulation, to include steroids, rituximab, intravenous immunoglobulin and plasma exchange. Case report - Case description: A 50-year-old lady presented to the Emergency Department with bilateral leg and abdominal pain. Her comorbidities included type two diabetes, psoriasis, three miscarriages, borderline personality disorder and a heavy smoking history. Clinical examination revealed pulse deficits in the distal lower limbs with gangrene evidence of ischaemia on her toe digits. CT angiogram demonstrated complete thrombus of the Infrarenal abdominal aorta extending to the common iliac and external iliac arteries bilaterally. Thrombolysis ensued and an aortic stent was inserted with symptom relief. Two weeks later readmission occurred with bilateral leg pain;Ultrasound Doppler revealed a tight stenosis at the distal aortic region. Initial management consisted of Intravenous heparin but worsening ischaemia resulted in insertion of kissing stents at the aortic bifurcation. The patient's pain settled with no residual arterial compromise. One month later the patient was re-admitted with bilateral leg pain and necrotic right toes;this led to a right forefoot amputation. A triphasic bilateral finger colour change was noted with ischaemic pain and livedo reticularis on lower limbs, with a decision to institute Iloprost and methylprednisolone ensued. Antiphospholipid antibodies returned showing triple positivity. Management subsequently included addition of IV rituximab, plasma exchange, IVIG and sildenafil. Two months later the patient was re-admitted with complete lower limb paralysis due to a complete thrombus of the aortic bi-iliac stent;thrombolysis ensued with good result. A further admission 1- month later occurred due to sepsis and an infected necrotic left forefoot resulting in an above knee amputation. No further endovascular stenting was advised to risk of embolic seeding following medical management. Case report - Discussion: We have described a case of cAPS on a previously asymptomatic female patient who presented with diffuse peripheral and central thromboses. Our patient suffered from intraabdominal organ infarction and subsequent acute kidney injury, recurrent arterial and venous occlusion over a period of 12 months and previous pulmonary emboli. Livedo reticularis and gangrene were visible cutaneous manifestations of this disorder on our patient. cAPS accounts for less than 1% of APS and has a high mortality of 50% which means early and frequent discussion with specialist centres is important. In addition to the clinical features described in our patient, laboratory features included moderate thrombocytopaenia and evidence of haemolysis (raised bilirubin and LDH). The cAPS registry demonstrates that the majority of patients are female (72%) with a mean age of 37 years, 46% have primary APS, 40% suffer from SLE and 9% from other autoimmune diseases. This patient does not have a secondary autoimmune condition. The most common clinical features to present before cAPS develops include foetal loss, previous DVT or thrombocytopaenia, two of which our patient demonstrated. The prognosis and clinical features of cAPS have been shown to depend on the extent of thrombosis, organs affected and the presence of a systemic immune response from affected tissues. Treatment options available for cAPS consist of multiorgan support, anticoagulation and immunosuppression, in the form of glucocorticoids, rituximab, IV Immunoglobulin and plasma exchange. Our patient required all of these due to accelerating thrombosis as determined b new gangrene, ongoing livedo reticularis rash and thrombocytopenia. Case report - Key learning points: Our case demonstrates the importance of keeping a high index of suspicion for cAPS as up to 46% will have this as their first presenting feature of APS - including our patient. On her admission to hospital particular attention was paid to clinical examination which suggested Raynauds and a skin rash consistent with livedo reticularis - this prompted a rheumatology consult, serology testing, starting Iloprost and tertiary centre transfer. The diagnosis was secure with high titre of IgG anticardiolipin antibody, anti Beta-2 glycoprotein 1 antibodies and Lupus Anticoagulant detected- all on two occasions more than 12 weeks apart. Patients may present to surgical specialties in view of peripheral vascular symptoms and signs. It would be appropriate to identify patients with APS early to prevent multiple surgeries or considerations for endovascular stents, as they are frequently not successful. This case highlights the need for discussion and education within the multidisciplinary setting for patients with APS, including surgical teams. Finally, the risk of immunosuppression for patients who have received rituximab can persist for up to 12 months following treatment and this lady also had the co-morbidity of diabetes. This patient's risk stratification was high in view of COVID-19 and she was advised to shield until government guidelines ended last year. Currently she is doing well without new symptoms and she will be reviewed at 6 months following rituximab, in the Autumn of 2021.

Mental health and COVID-19: The impact of a virtual course for family caregivers of adults with intellectual and developmental disabilities.

BACKGROUND: The COVID-19 pandemic has significantly impacted family caregivers of adults with intellectual and developmental disabilities (IDD). This study evaluated a virtual course for family caregivers from across Canada, focused on supporting the mental health and well-being of adults with IDD and their families. The evaluation examined the feasibility and acceptability of the course, as well as the impact of the intervention on participants' overall health and well-being. METHODS: The 6-week virtual course, informed by a parallel Extension for Community Healthcare Outcomes (ECHO) course for service providers, combined didactic instruction with applied activities. A total of 126 family caregiver course participants consented to be part of the research evaluation delivered over three cycles between October 2020 and April 2021. Attendance was measured at each weekly session. Satisfaction was assessed weekly and post-program. Learning, self-efficacy, and well-being were assessed pre- and post-course, and again at follow-up (8 weeks post-course). Mixed-effects models assessed changes between and within individuals across time. RESULTS: Participants had consistent attendance, low-dropout rates, and reported high satisfaction, with 93% of participants reporting that their expectations for the course were met. Compared with pre-course, participants reported improved self-efficacy and well-being post-course, which were maintained at follow-up. CONCLUSIONS: An interactive and applied virtual education course delivered to a large group of family caregivers of adults with IDD was both feasible and acceptable. It positively impacted participants' well-being by offering much needed mental health support and creating a peer-led community of practice.

A rare cause of diffuse peripheral and central thromboses

Content: Catastrophic Antiphospholipid Syndrome (cAPS) is the most severe form of Antiphospholipid Syndrome with a high mortality. We present the case of a fifty year old lady with recurrent thromboses, initially treated with endovascular stents, progressing to require immunosuppression and anticoagulation. A fifty year old lady presented with bilateral leg and abdominal pain. Co-morbidities included Diabetes Mellitus and three miscarriages. Examination revealed pulse deficits in the lower limbs with gangrene on her toe digits. CT Angiogram demonstrated complete thrombus of the Infrarenal Aorta and an Aortic stent was inserted. Two weeks later readmission occurred with leg pain;Doppler revealed a tight stenosis at the distal aortic region which mandated Kissing stent insertion. One month later the patient presented with bilateral leg pain and necrotic right toes;this led to a right forefoot amputation. A triphasic finger colour change was noted with livedo reticularis on her lower limbs;a decision to institute Iloprost and Methylprednisolone ensued. Antiphospholipid antibodies returned showing triple positivity. Management subsequently included the addition of Rituximab, Plasma Exchange, IVIG and Sildenafil. Two months later readmission occurred with lower limb paralysis due to a complete thrombus of the Aortic Bi-Iliac stent- thrombolysed with good result. No further endovascular stenting was advised due to risk of embolic seeding. We have described a case of cAPS on a previously asymptomatic patient who presented with diffuse thrombosis. Our patient suffered from organ infarction, recurrent vascular occlusion over a period of 12 months and previous pulmonary emboli. Livedo reticularis and gangrene were demonstrated. CAPS accounts for less than 1% of APS with a mortality of 50%;this means early specialist input is important. The cAPS registry demonstrates that the majority of patients are female (72%) with a mean age of 37 years, 46% have primary APS, 40% suffer from SLE and 9% from other Autoimmune diseases. This patient does not have a secondary autoimmune condition. The most common clinical features to present before cAPS develops include foetal loss, previous DVT or thrombocytopenia- two of which our patient demonstrated. The prognosis and clinical features of cAPS have been shown to depend on the extent of thrombosis, organs affected and the presence of a systemic immune response. Our patient required aggressive treatment due to accelerating thrombosis as determined by new gangrene, ongoing livedo reticularis and thrombocytopenia. Our case demonstrates the importance of keeping a high index of suspicion for cAPS as up to 46% will have this as their first presenting feature of APS. The diagnosis was secure with high titre of IgG anticardiolipin antibody, anti-Beta-2 glycoprotein 1 antibodies and Lupus Anticoagulant. Patients may present to surgical specialties in view of peripheral vascular signs and symptoms. It would be appropriate to identify patients with APS early to prevent multiple surgeries or endovascular stents, as they are frequently not successful. This case highlights the need for discussion and education within the multi-disciplinary setting for patients with APS. Finally, the risk of immunosuppression for patients who have received Rituximab can persist for up to 12 months following treatment. This patient's risk stratification was high in view of COVID-19 and she was advised to shield until government guidelines ended.