Use of eculizumab in a systemic lupus erythemathosus patient presenting thrombotic microangiopathy and heterozygous deletion in CFHR1-CFHR3. A case report and systematic review

This study describes a successful case of use of eculizumab in a patient with SLE and TMA refractory to standard therapy, and provides a literature review. Case description and search in PubMed and MEDLINE using systemic lupus erythemathous and/or antiphospholipid syndrome (APS) and eculizumab retrieved 15 case reports. Eighteen-year-old female presented acute renal failure and TMA and was diagnosed with SLE. Steroids and IV cyclophosphamide were started together with plasma exchange. After 55  days, she still persisted with microangiopathic anemia, thrombocytopenia, and anuria, and eculizumab was introduced. She had rapid improvement in hematological parameters, and dialysis was discontinued 25 days after the first dose. Genetic analysis showed large heterozygous deletion encompassing the entire CFHR1 and CFHR3, a finding previously associated with patients presenting atypical hemolytic-uremic syndrome (aHUS). Twenty patients who received eculizumab with SLE and/or APS have been published to date: 11 were female and mean age at presentation was 31 years. Seven out of the 20 pati ents presented only SLE, 5 patients only APS and 8 patients both SLE and APS. Eighteen patients underwent plasma exchange, with a mean of 20 (4–120) sessions per patient. Thirteen patients received rituximab. Hematological response was evident in 100% and kidney recovery in 85% of patients. The te rminal complement blockade with eculizumab is an optional treatment for patients wi...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research

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Conditions:   Autoimmune Disorder;   Rheumatoid Arthritis;   Systemic Lupus Erythematosus;   Primary Sjögren's Syndrome Interventions:   Drug: branebrutinib;   Drug: abatacept;   Drug: branebrutinib placebo Sponsor:   Bristol-Myers Squibb Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Immune Thrombocytopenia Interventions:   Biological: efgartigimod;   Other: Placebo Sponsor:   argenx BVBA Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Cancer Anaemia Intervention:   Drug: Ferinject Sponsor:   Samsung Medical Center Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Authors: Jha VK, Jairam A, Mahapatra D Abstract Oral anticoagulants are commonly prescribed in patients with kidney diseases having atrial fibrillation and thromboembolic risk. It is very important to understand their clinical pharmacology and changes that may occur as GFR declines. Risks and benefits of newer oral anticoagulants are different in patients with CKD and patients with ESRD. Patients with GFR
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research
Conclusion: TfR2 -Y250X and TfR1-rs3817672 SNP showed clinical association with iron deficiency anemia and screening for mutations of TFR2 is a new diagnostic tool that can be offered to patients who do not have HFE mutations or who have incomplete HFE genotypes. This results may have practical implications for the molecular diagnosis of hemochromatosis. Genotyping the TFR gene should be included in the disease diagnostic protocols. PMID: 31793267 [PubMed - in process]
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research
We report a patient with active APS nephropathy lesions occurring on native kidneys, in which endothelial mTORC activation was substantiated at the molecular level. Treatment with sirolimus was shown on a repeat kidney biopsy to successfully inhibit the AKT/mTORC pathway and was associated with significant improvement in kidney function and lesions of vasculopathy. Drug tolerance was excellent during the entire follow-up. This case validates and extends previous observations in kidney transplant recipients and demonstrates that endothelial activation of the AKT/mTORC pathway occurs in the damaged renal vasculature of nativ...
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
We examined a patient aged 31 who had a sudden burning paraesthesia, pain and numbness in the lower legs together with an increased temperature of 39°C. Clinical examination showed asymmetrical sensory polyneuropathy more clearly seen in the lower legs and the left wrist, with high ESR (up to 44 mm/h), leukocytosis, slight anemia and proteinuria. CSF was normal. After three weeks the temperature suddenly increased again up to 39°C and severe flaccid distal tetraparesis was seen more clearly with foot drop in the left lower leg and dense oedema in the left wrist, purple cyanosis and haemorrhagic foci appeared on the...
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
ConclusionsCompared to other pituitary adenomas, secreting and non-secreting, where pituitary surgery is the recommended first-line treatment, men with prolactinomas will usually respond to medical treatment with no need for any additional treatment.
Source: Pituitary - Category: Endocrinology Source Type: research
AbstractPurpose of ReviewAntiphospholipid syndrome (APS) is a rare heterogenous disorder associated with the presence of antiphospholipid antibodies and can present in a wide variety of clinical manifestations including thrombosis and pregnancy complications. Although the etiology of APS remains poorly understood, there is strong support for considering APS as a complex genetic disease in which multiple genetic risk factors, in conjunction with environmental factors, affect its onset, progression, and severity. Here, we provide a comprehensive review of the current knowledge of the genetic basis of APS, which remains in it...
Source: Current Rheumatology Reports - Category: Rheumatology Source Type: research
Opinion statementDespite being the second most common indolent non-Hodgkin ’s lymphoma (iNHL), marginal zone lymphoma (MZL) remains largely understudied, and given its underlying disease heterogeneity, it is challenging to define a single treatment approach for these patients. For localized disease, local therapy is recommended such as triple therapy forH.pylori in gastric extranodal MZL, splenectomy for splenic MZL, and radiotherapy for nodal MZL. For disseminated disease with low tumor burden, a watch and wait or single-agent rituximab can be used. However, for symptomatic disease, a similar approach to follicular ...
Source: Current Treatment Options in Oncology - Category: Cancer & Oncology Source Type: research
More News: Anemia | Antiphospholipid Syndrome | Dialysis | Genetics | Hematology | Hemolytic Uremic Syndrome (HUS) | Hughes Syndrome | Lupus | Microangiopathic Hemolytic Anemia | Renal Failure | Rheumatology | Rituxan | Study | Thrombocytopenia | Urology & Nephrology