La Revue de médecine interne
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Thrombotic Thrombocytopenic Purpura (TTP) is a rare disease characterized by a severe deficiency of ADAMTS13, the specific protease that cleaves von Willebrand factor. The congenital form of TTP (cTTP) results from pathogenic variants of the ADAMTS13 gene. cTTP has two peaks of incidence: one in childhood and the other in adulthood, mainly in an obstetric context. The treatment of cTTP relies on ADAMTS13 replacement therapy for prophylaxis or on-demand, depending on the evolving nature of the disease, along with the management of cardiovascular risk factors. ⋯ Since 2017, a recombinant human ADAMTS13 protein (rhADAMTS13) has been evaluated in cTTP in international clinical trials. The rhADAMTS13 protein, intravenous infusion used for prophylaxis or on-demand, has been granted early access or compassionate use in cTTP in France in 2024. The objective of this document is to establish academic recommendations for the use of rhADAMTS13 in cTTP.
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Review
JAK inhibitors (JAKi): Mechanisms of action and perspectives in systemic and autoimmune diseases.
Janus kinase (JAK) molecules are involved in important cellular activation pathways. Over the past decade, many targeted therapies have emerged, including the increasingly promising role of JAK inhibitors (JAKi) in the treatment of inflammatory and autoimmune diseases. The spectrum of use of these small molecules is increasingly broader. ⋯ JAKi are now also commonly used in other diseases such as psoriatic arthritis, ankylosing spondylitis, and ulcerative colitis. They have also shown promising results in clinical trials for the treatment of other autoimmune conditions. We present here their mechanisms of action, and the main data about JAKi use on systemic and autoimmune diseases.
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Human papillomavirus (HPV) infections cause cancer of the cervix, vagina, vulva, anus, penis and upper respiratory tract. The prevention of HPV-induced cancers is a public health issue. Patients with systemic lupus are at increased risk of persistent HPV infection and cervical cancer due to treatment-induced immunosuppression. HPV vaccination and screening for precancerous lesions are two effective means of preventing cervical cancer. Despite the demonstrated safety and efficacy of the HPV vaccine, coverage of HPV vaccination in SLE adults remains low. Screening for cervical cancer is only carried out as recommended in one lupus patient in two. Catch-up HPV vaccination, therapeutic vaccination and vaginal self-sampling are innovative prevention strategies adapted to patients at risk of HPV-induced cancer. ⋯ Measures to prevent HPV-induced cancers are insufficiently implemented in patients managed for systemic lupus. Healthcare professionals and patients need to be made aware of the importance of HPV preventing vaccination.
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Hepatic encephalopathy is a severe complication with high mortality in patients with hepatopathy and/or portosystemic shunts, partly due to the presence of hyperammonemia because of defective hepatic detoxification. Diagnosis is essentially clinical, characterized by various neuropsychiatric symptoms, possibly associated with hyperammonemia. ⋯ Management is essentially based on treatment of triggering factors such as ionic disorders or sepsis, and symptomatic therapy with non-absorbable disaccharides (notably lactulose) or polyethylene glycol, possibly combined with rifaximin. Progression varies according to the initial severity and management of hepatic encephalopathy, but this condition is potentially reversible with treatment.
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Acquired hemophilia A (AHA) is a rare autoimmune disorder due to autoantibodies against factor VIII, with a high mortality risk. It should be suspected in subjects with abnormal bleedings, especially subcutaneous bleed associated with prolonged activated partial thromboplastin time (aPTT). ⋯ Eradication of inhibitor should be established as soon as the diagnosis is confirmed with steroid alone often associated with cytotoxic agents or rituximab, depending on FVIII activity and inhibitor titer. The purpose of this review is to summarize the epidemiology, etiopathogenesis, diagnosis, treatment of AHA and discuss current recommendations.