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Introduction: Legionella pneumophila can cause a wide spectrum of clinical manifestations, ranging from a mild flu-like illness to fulminant multi-organ involvement, characterised by severe pneumonia, diarrhoea, encephalopathy, shock, hepatic dysfunction and renal failure. Very rarely, it can be associated with haematologic conditions such as thrombotic thrombocytopenic purpura (TTP), haemolytic uraemic syndrome (HUS) and immune thrombocytopenic purpura (ITP). We report a rare case of L. pneumophila causing ITP and review previously published cases of thrombocytopenia associated with Legionellosis in the literature. Case description: A 53-year-old male presented with fevers, chills, a productive cough and severe haemoptysis. Blood work was remarkable for leukocytosis, severe thrombocytopenia and hyponatraemia. Computed tomography (CT) imaging showed left lower lobe lung consolidation, and a peripheral blood smear showed giant platelets consistent with ITP. Legionella urine antigen testing returned positive. He was treated with intravenous immunoglobin, steroid taper and a ten-day course of azithromycin, which led to normalisation of his platelet count and resolution of the pneumonia. Discussion: L. pneumophila can lead to complement-mediated destruction of platelets resulting in ITP. Antibodies against L. pneumophila can also cross-react with the enzyme ADAMTS13, inhibiting its function and resulting in TTP and HUS. Additionally, L. pneumophila can infect vascular endothelial cells causing their death and stimulating release of von Willebrand factor (vWF) multimers into the bloodstream, promoting thrombosis and platelet consumption. Conclusion: It is important for internists to consider L. pneumophila in the differential for any patient presenting with pneumonia and severe thrombocytopenia. Earlier detection and intervention can lead to prevention of critical bleeding and better outcomes. LEARNING POINTS: Legionella pneumophila is rarely associated with different haematologic disorders resulting in severe bleeding diathesis as well as thrombosis.It is important for internists to consider Legionella pneumophila in the differential diagnosis for any patient presenting with pneumonia and severe thrombocytopenia.Earlier detection and intervention can lead to prevention of critical bleeding and better outcomes.
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BACKGROUND: Immune thrombocytopenic purpura (ITP) in adults typically develops slowly and insidiously. The ITP medications might be linked to psychological disorders, but the connection is not well-understood. OBJECTIVE: This study aimed to examine the association between ITP medication use and the risk of depression among participants in the National Health and Nutrition Examination Survey (NHANES) from 2005 to 2018. METHODS: Using data from 70 190 NHANES participants, we conducted a cross-sectional study, excluding individuals under 18 years, with hypertension, HIV, hepatitis C, and various comorbidities. A total of 17 299 individuals were included in the analysis of this study. We identified 2 populations within this study: those using ITP medications, including prednisone, dexamethasone, and rituximab and those not using ITP drugs. Depression status was assessed using the Patient Health Questionnaire-9 (PHQ-9), and the relationship between ITP medication use and depression was analyzed through multivariate logistic regression. RESULTS: There was no significant association between ITP medication use and an increased risk of depression after adjusting for demographic and health-related variables. Notably, among the study participants, 1.8% of the non-depressed population were on ITP medication compared with 0.3% in the depressed population. The analysis revealed varying depression risks associated with different sociodemographic factors. For instance, the correlation between ITP medication and depression risk was influenced by a combination of age, race, income, and smoking status. CONCLUSION AND RELEVANCE: The study suggests that ITP medication use does not independently increase the risk of depression. This finding is crucial for guiding clinical decisions and managing patient expectations regarding ITP treatment and its psychological impacts.
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Immune thrombocytopenic purpura (ITP) is an immune disorder characterized by thrombocytopenia. Fostamatinib is an orally administered spleen tyrosine kinase inhibitor intended to treat refractory ITP. To evaluate the efficacy and safety of fostamatinib as a subsequent-line therapy for ITP in adults. We searched four electronic databases for primary studies of any design. Primary efficacy outcomes included proportions of patients achieving overall (≥30 × 109 cells/L), partial (≥50 × 109 cells/L), and stable (as defined in original studies) platelet response. Safety outcomes included rescue medication use and other adverse events. We used narrative synthesis and Mantel-Haenszel random effect meta-analysis to summarize results. Our systematic review included 11 studies for analyses (n = 722). Weighted mean proportions of patients achieving overall, partial, and stable responses with fostamatinib treatment were 0.70 [0.62, 0.76], 0.48 [0.36, 0.61], and 0.28 [0.16, 0.44], respectively. Fostamatinib was favored over placebo for partial (relative risk [RR] = 3.04, 95% confidence interval [CI] [1.53, 6.06]) and stable (RR = 6.43, 95% CI [1.58, 26.23]) responses. Patients on fostamatinib required less rescue medication and were more likely to experience hypertension. Fostamatinib is a viable subsequent-line therapy option for refractory ITP. Given the heterogeneous data and large number of small studies, these results should be interpreted cautiously.
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BACKGROUND: Immune thrombocytopenic purpura, a recurrent autoimmune disease, is characterized by thrombocytopenia, purpura and hemorrhagic episodes with the main factor in the pathogenesis of this disease being autoantibodies against platelets. Since the 1950s, first-line treatment has been glucocorticoids that have indirect and direct effects on thrombocytopenia. Although the characteristics associated with the chronicization of immune thrombocytopenic purpura at the time of diagnosis have been investigated in previous studies, no study was found in the literature investigating the relationship between the response to first-line steroid treatment and the course of the disease, the aim of this study. MATERIALS AND METHODS: This retrospective, single center study revisited electronic files of patients with a diagnosis of immune thrombocytopenic purpura between September 2012 and September at the Department of Clinical Hematology, Selcuk University Faculty of Medicine 2022. The platelet count had been confirmed by peripheral blood smears of patients with a platelet count ≤30â¯×â¯109/L. The bleeding status of patients at the time of diagnosis was evaluated according to the immune thrombocytopenic purpura bleeding score. Patient responses to treatment were categorized in three groups: a platelet count ≤30â¯×â¯109/L was defined as no-response, a platelet count of 30-100â¯×â¯109/L was defined as partial response, and a platelet count >100â¯×â¯109/L was defined as complete response. Subsequently, patients in the partial or complete response groups were divided into two subgroups: patients who remained in remission for less than or more than six months. RESULTS: A total of 100 patients were included in the study; 73â¯% were in the young (19-65 years old) and 27â¯% in the old (>65 years old) age group. Most of the patients were female (69â¯%). Forty-one patients were hospitalized without bleeding. The complete response rate to first-line treatment was 61â¯%. There was no significant difference between the agents given in first-line treatment in terms of response and length of remission. CONCLUSION: The main purpose of immune thrombocytopenic purpura treatment is to prevent severe bleeding rather than bringing the platelet count to normal values. Glucocorticoids, the first step of treatment, provide high response rates. There is no significant difference between glucocorticoid agents in terms of response to treatment and long-term remission. The points to be considered in the selection of glucocorticoid agents are the side effect profiles, ease of administration and individualization of treatment.
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INTRODUCTION: Splenectomy has been used as a diagnostic and therapeutic tool in the management of hematological diseases for many years. However, the emergence of new medical therapies has modified guidelines for many hematological diseases for which splenectomy was previously considered. We aimed to evaluate the evidence of a decrease in the hematological indications for splenectomy and the reasons and justifications for this change. MATERIAL AND METHODS: We conducted a single-center, retrospective analysis of patients who underwent laparoscopic splenectomy for hematological disease between January 2010 and December 2023. Patients were classified into four groups: 1 autoimmune and hemolytic diseases (HAD), (2) lymphomas, (3) myeloproliferative diseases (MPN), and (4) other splenic diseases. We recorded the annual incidence of splenectomy and the ratio of new medical cases, demographic and clinical data and surgical outcomes. RESULTS: During the study period, 98 patients were referred for splenectomy. There was a significant progressive decrease in this surgical indication, particularly regarding HAD (p < 0.001). The indication for splenectomy for immune thrombocytopenic purpura (ITP) declined to zero despite an increase in the number of patients diagnosed with this disorder (p < 0.001). The pattern of decrease in AHAI and Evans syndrome was similar to that in ITP. The group of splenectomies due to lymphoma persisted consistently during the study period, as did the indication for splenectomy in the context of lymphoma treatment. Splenectomy due to massive splenomegaly secondary to MPN was indicated only in one patient. Splenectomies due to other causes were similarly distributed over the years. CONCLUSIONS: Our findings confirm a significant decrease in the indication for elective surgery for hematological diseases, mainly regarding autoimmune disease. The surgical community and surgical departments should be aware of this situation yet maintain the skills to adopt this technique both safely and efficiently.
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Introduction: A variety of studies have shown a link between the gut microbiota and autoimmune diseases, but the causal relationship with Henoch-Schönlein purpura (HSP) and immune thrombocytopenic purpura (ITP) is unknown. Methods: This study investigated the bidirectional causality between gut microbiota and HSP and ITP using Mendelian randomization (MR). Large-scale genetic data of gut microbiota at phylum to species level from the MiBioGen consortium and the Dutch Microbiome Project were utilized. Genome-wide association studies (GWAS) summary statistics for HSP and ITP came from FinnGen R10. Various MR methods were applied to infer causal relationships, including inverse variance weighted (IVW), maximum likelihood (ML), cML-MA, MR-Egger, weighted median, weighted model, and MR-PRESSO. Multiple sensitivity analyses and Bonferroni correction were conducted to enhance robustness and reliability. Results: Based on the IVW estimates, 23 bacterial taxa were identified to have suggestive associations with HSP and ITP. Remarkably, after Bonferroni correction, family Alcaligenaceae (OR = 2.86, 95% CI = 1.52-5.37; IVW, p = 1.10 × 10-3, ML, p = 1.40 × 10-3) was significantly associated with ITP as a risk factor, while family Bacteroidales S24 7group (OR = 0.46, 95% CI = 0.29-0.74; IVW, p = 1.40 × 10-3) was significantly associated with ITP as a protective factor. No significant associations between HSP and ITP and gut microbiota were found in reverse analyses. Conclusion: Our study provides evidence of causal effects of gut microbiota on HSP and ITP, highlighting the importance of further research to clarify the underlying mechanisms and develop targeted therapeutic interventions for these autoimmune diseases.
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Background: Myocardial infarction (MI) in a patient with immune thrombocytopenia is a rare scenario which is very challenging to manage. Case summary: We present a rare case of a patient with immune thrombocytopenic purpura who developed double territory segment-elevation MI with cardiogenic shock. She had an extremely rare presentation with a fresh mobile thrombus in the aortic root which was trap-dooring the right coronary artery ostium and extending into the artery with an embolism into the distal left anterior descending artery. We managed this patient conservatively with excellent recovery owing to the dangerous location of the hanging thrombus, and severe thrombocytopenia. Conclusions: Multidisciplinary approach is required for the management of MI in patients with pre-existing blood disorders, with therapy tailored to the patient's presentation and treatment requirements.
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Background: The treatment landscape for relapsed or refractory immune thrombocytopenia (ITP) after corticosteroids is complex. Objectives: We aimed to assess the efficacy of danazol in treating ITP and evaluate the safety and adverse events following its administration. Methods: We searched the databases PubMed, EMBASE, and ClinicalTrials.gov for all published studies assessing danazol's efficacy and safety in treating ITP. The retrieved studies were screened by title and abstract, followed by full-text screening based on the eligibility requirements. The quality assessment was performed using a set of questionnaires. The data were extracted on the descriptive characteristics of the studies and participants, drug dosage, efficacy measures, and adverse effects, and the data were synthesized. Results: A total of 17 studies consisting of 901 participants were included. The overall response rate is around 61% in this analysis. Among the participants, 315 (34.9%) were men. The age of participants ranged from 16 to 86 years. Danazol combined with other pharmacologic interventions, including all-trans-retinoic acid or glucocorticoids, generated better results. The most common side effects appear to be liver injury and elevation of liver enzymes, weight gain, oligomenorrhea, amenorrhea, and myalgia. Conclusion: Danazol at low-to-medium doses was well tolerated and succeeded in improving ITP. Danazol therapy may be helpful in the treatment of chronic ITP that is corticosteroid refractory and when corticosteroids or splenectomy (or both) is contraindicated. Danazol can be considered for further research and development in treating primary immune thrombocytopenia.
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BACKGROUND: Primary Immune Thrombocytopenic Purpura (ITP) is an autoimmune hematological condition characterized by isolated thrombocytopenia and frequently presents with oral manifestations. However, reports of primary ITP in patients with Turner Syndrome (TS) are exceptionally rare, with few cases documented in the literature. Herein, we describe an unusual case of primary ITP with exuberant oral manifestations in a patient with TS. CASE REPORT: A 29-year-old woman was referred to an oral diagnostic service with complaints of "blood blisters and gum bleeding" lasting 8 h. On extraoral physical examination, multiple petechiae were observed in the upper and lower limbs, in addition to hemorrhagic extravasation in the right ocular sclera (hyposphagma). On intraoral examination, multiple vesicles and blisters filled with blood were identified on the lower lip, back of the tongue, and buccal mucosa, along with spontaneous gingival bleeding and hemorrhagic petechiae on the palate. Laboratory tests revealed thrombocytopenia (5000/mm3), whereas the blood count showed normality in the red and white series. After excluding other etiological factors or associated diseases, the patient was diagnosed with severe ITP and began treatment with systemic corticosteroids in the intensive care unit, resulting in a successful increase in platelets. After a 2-year follow-up, the patient remains free of ITP recurrences. CONCLUSION: Oral manifestations may be one of the first signs of ITP. Therefore, it is essential that dentists are familiar with the condition and, when faced with unusual oral bleeding, consider the possibility of a hematological disorder such as ITP, ensuring a correct and early diagnosis. Moreover, the presence of ITP can further exacerbate complications associated with TS. Therefore, rigorous follow-up of these patients is crucial, considering the high incidence of cardiovascular and autoimmune diseases and the reduced life expectancy of these patients.
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Key Clinical Message: Vincristine therapy can be effective in refractory Immune thrombocytopenia (ITP) following COVID-19 vaccination. Our case report highlights the need for further research to establish standard management guidelines for COVID-19-vaccine-associated ITP. Abstract: Adult immune thrombocytopenia (ITP) can occur as a rare complication following several viral infections or a rare adverse event or complication of vaccination. In this paper, we report a case of a 39-year-old male patient with severe refractory ITP that began 4-weeks after receiving his third (booster) dose of the COVID-19 vaccine (BNT162b2, Pfizer-BioNTech). He was given oral dexamethasone 40 mg daily for 4 days followed by prednisone at 1 mg/kg (85 mg daily) for 10 days. In the following weeks, we attempted several other lines of therapy to treat his ITP, including anti-RhD immunoglobulin, which, unfortunately, caused moderate hemolysis requiring packed red blood cell transfusion, intravenous immunoglobulin (given at a subtherapeutic dose of 0.4 g/kg for only 1 day since it was not available), rituximab, and eltrombopag. The patient, unfortunately, showed no response to any of these treatments. This was an indicator to initiate salvage therapy with vincristine 2 mg weekly for 3 weeks. The patient's platelet count started to increase remarkably during the third week of vincristine and normalized after 4 weeks. We review the findings, clinical characteristics, and management approaches that were reported in the literature regarding COVID-19-vaccine-induced ITP. More in-depth research is needed to delineate standard guidelines for the management of such cases. This report underscores the importance of resorting to vincristine and eltrombopag as great options for severe and refractory ITP related to the COVID-19 vaccine.
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Bleeding and thrombosis are common complications during immune thrombocytopenic purpura (ITP) treatment. There is a strong need to predict bleeding and thrombosis risks before ITP treatment to optimize therapy and appropriately manage these complications. We performed a retrospective cohort study of 120 patients with primary ITP to identify a biomarker to predict bleeding and thrombosis. We compared blood test results at diagnosis between patients with and without bleeding or thrombosis episodes. The standard deviation of red blood cell distribution width (RDW-SD) differed significantly between those with and without bleeding and between those with and without thrombosis, leading us to identify it as a variable representative of risk. RDW-SD was significantly associated with patient age and with histories of several vascular diseases. Multivariate regression analyses showed that RDW integrated several variables associated with vascular risks. RDW-SD was significantly associated with difficulty with corticosteroid discontinuation (hazard ratio [HR], 2.22, p = 0.01), incidence of bleeding (HR, 2.75, p< 0.01), incidence of thrombosis (HR, 2.67, p< 0.01) and incidence of infection (HR, 1.78, p = 0.04). The RDW-SD value at the time of ITP diagnosis is a useful biomarker to predict the risks of bleeding, thrombosis, and other complications.
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Cerebral venous sinus thrombosis in itself is rarely encountered clinical entity and its association with immune thrombocytopenic purpura (ITP) makes it more unusual presentation. No any as such standard guidelines exist that guides the prompt evidence based management in such concurrent cases but neuroendovascular modality can play a pivotal role.
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BACKGROUND: Chronic Granulomatous Disease (CGD) is a rare immunodeficiency disorder characterized by impaired phagocytic function, leading to recurrent infections and granuloma formation. Genetic mutations in NADPH oxidase complex components, such as CYBB, NCF1, NCF2, and CYBA genes, contribute to the pathogenesis. This case report explores the possible ocular and hematologic complications associated with CGD. CASE PRESENTATION: A 6-year-old girl with a history of vitrectomy, membranotomy, and laser therapy due to congenital blindness (diagnosed with chorioretinopathy) was referred to the hospital with generalized ecchymosis and thrombocytopenia. Diagnostic workup initially suggested chronic immune thrombocytopenic purpura (ITP). Subsequent admissions revealed necrotic wounds, urinary tract infections, and recurrent thrombocytopenia. Suspecting immunodeficiency, tests for CGD, Nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) were performed. She had a low DHR (6.7), and her NBT test was negative (0.0%). Her whole exome sequencing results confirmed autosomal recessive CGD with a homozygous NCF1 mutation. CONCLUSION: This case underscores the diverse clinical manifestations of CGD, including recurrent thrombocytopenia and possible early-onset ocular involvement. The diagnostic challenges highlight the importance of a multidisciplinary approach involving hematologists, immunologists, and ophthalmologists for accurate diagnosis and management. The rare coexistence of ITP in CGD emphasizes the intricate link between immunodeficiency and autoimmunity, requiring tailored therapeutic strategies.
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Enfermedad Granulomatosa Crónica , Púrpura Trombocitopénica Idiopática , Humanos , Femenino , Enfermedad Granulomatosa Crónica/diagnóstico , Enfermedad Granulomatosa Crónica/genética , Enfermedad Granulomatosa Crónica/complicaciones , Niño , Púrpura Trombocitopénica Idiopática/diagnóstico , Púrpura Trombocitopénica Idiopática/genética , Púrpura Trombocitopénica Idiopática/complicaciones , NADPH Oxidasas/genética , Mutación , Secuenciación del ExomaRESUMEN
OBJECTIVE: To explore the early hemostatic mechanism of Jianpi Yiqi Shexue decoction (, JYSD) in treating immune thrombocytopathy (ITP), based on the functional homeostasis of brain-intestine axis and blood neurotransmitter METHODS: Non-drug treatment cases: Healthy volunteers were selected as normal control group and compared with patients with dysfunctional uterine bleeding, gastrointestinal tumors with bleeding and ITP, to detect the changes of blood 5-hydroxytryptamine (5-HT), ß-endorphin (ß-EP), vasoactive intestinal peptide (VIP) and compare the changes of blood neuro-transmitters in patients with different disease symptoms. Drug treatment cases: According to the randomized controlled multicenter clinical trial, 272 ITP patients were randomly divided into three groups: treatment group (JYSD) combined group (JYSD + Prednisone) control group (Prednisone). The changes of blood neuro-transmitter (5-HT, ß-EP, VIP) before and after treatment were detected on the basis of peripheral blood platelet (PLT) and grade score. RESULTS: Non-drug treatment cases: compared with the normal control group, the 5-HT level was higher, and the VIP and ß-EP levels were both lower in the ITP group (P < 0.001), and the 5-HT, VIP and ß-EP levels in the Gastrointestinal tumors with bleeding group were also lower compared with the normal control group (P < 0.05, 0.001). Drug treatment cases: The PLT grading scores of the combination group and the control group after treatment were lower than that before treatment (P < 0.05, 0.001). The PLT grading score of the 3 groups were compared in pairs after treatment: the combination group was the lowest among the 3 groups, which was better than the treatment group, but no better than the control group (vs the treatment group, P = 0.005, vs the control group, P = 0.709). The statistical results of full analysis set (FAS) and per protocol set (PPS) were consistent. The bleeding symptom scores of the treatment and combination groups began to drop 7 d after treatment, and kept dropping 14 d after treatment until the end of the study (P < 0.05). On the other hand, the control group started to show favorable results 14 d after treatment (P < 0.05). The FAS and PPS analysis results were consistent. In the control group, the 5-HT level was higher and VIP level was lower after treatment, compared with those before treatment (P < 0.05, 0.001). The ß-EP levels were both increased in the treatment and combination group after treatment, compared with those before treatment (P < 0.05). After treatment, the ß-EP levels in the treatment and control groups were significantly lower compared with the combination groups (P < 0.05). After treatment, compared with the control group, the VIP levels in the treatment and combination groups were up-regulated, and the differences were statistically significant by rank sum test (P < 0.01), and by t-test (P = 0.0002, 0.0001). CONCLUSIONS: The prednisone tablet is better than the JYSD in increasing the level of PLT, while prednisone tablet combined with JYSD has more advantages in improving patients' peripheral blood PLT levels. However, in improving the bleeding time of ITP patients, the combination of the two drugs was significantly delayed compared with the single usage, showing the characteristics and advantages of traditional Chinese medicine. JYSD can regulate the neurotransmitter level of ITP patients through the function of the brain-gut axis, mobilize 5-HT in the blood of ITP patients to promote the contraction of blood vessels and smooth muscles, and activate the coagulation mechanism are the early hemostatic mechanisms of JYSD. Up-regulate the levels of ß-EP and balancing VIP levels may be an important part of the immune mechanism of JYSD for regulating ITP patients.
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Medicamentos Herbarios Chinos , Serotonina , Humanos , Medicamentos Herbarios Chinos/administración & dosificación , Femenino , Persona de Mediana Edad , Adulto , Masculino , Serotonina/sangre , Anciano , Adulto Joven , Péptido Intestinal Vasoactivo/sangre , Púrpura Trombocitopénica Idiopática/tratamiento farmacológico , Púrpura Trombocitopénica Idiopática/sangre , betaendorfina/sangre , Adolescente , Hemostáticos/administración & dosificación , Hemostasis/efectos de los fármacosRESUMEN
Intracerebral hemorrhage (ICH) is a rare and severe complication of immune thrombocytopenic purpura (ITP) that can be spontaneous. Viral illnesses, other infections, autoimmune disorders, and medications can cause ITP. ITP causes a significant decrease in platelet levels, increasing bleeding risk. ITP can be treated by steroids, intravenous immunoglobulin, plasmapheresis, platelet transfusion, biological agents, and splenectomy. ICH treatment involves the treatment of underlying ITP, as well as any neuro-interventional procedures needed. In this case report, we look at the presenting symptoms and treatment course of an interesting case of ICH in a patient who developed ITP after a viral upper respiratory infection.
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Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune inflammatory demyelinating disease of the central nervous system affecting the optic nerves and spinal cord. Immune thrombocytopenia (ITP), on the other hand, is an autoimmune disorder characterized by a platelet count of <100 in the absence of any known condition that could be associated with thrombocytopenia. This case report focuses on a 56-year-old female presenting with the unique coexistence of NMOSD and ITP. A 56-year-old woman of Russian descent had a sudden onset of right eye blindness at the age of 24 and was diagnosed with multiple sclerosis. She developed petechial rashes on both lower extremities two weeks before consultation with no associated findings. Cranial MRI revealed multiple nodular and patchy areas of hyperintense signals on T2-weighted/fluid-attenuated inversion recovery without restricted diffusion. A thoracolumbar MRI revealed long segment foci of intramedullary cord non-enhancing abnormal hyperintense signal from T2 to T11. Cerebrospinal fluid aquaporin 4 IgG was negative. A complete blood count revealed platelets of 4 × 109/L, leading to the management of ITP. She was started on methylprednisolone 1 g/day for five days. Her platelet count improved eventually and rashes resolved. Rituximab treatment was initiated at a dose of 1 g on day 1 and day 15. On the 18th day of admission, the Expanded Disability Status Scale and functional score improved to 6.0 from 7.0 upon admission.
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Chronic myelomonocytic leukemia (CMML) presents as a complex hematologic malignancy with myelodysplastic and myeloproliferative features. Our case report explores the rare coexistence of CMML with immune thrombocytopenic purpura (ITP) in a 63-year-old female patient. CMML diagnosis followed World Health Organization criteria, and the patient was classified as having high-risk myelodysplastic syndrome (MDS)-CMML stage 2. Initial treatment with subcutaneous azacytidine for CMML proved partially effective, highlighting persistent severe thrombocytopenia. Subsequent investigations revealed secondary ITP associated with Crohn's disease. Conventional ITP therapies, including high-dose steroids and intravenous immunoglobulin, showed limited efficacy. Eltrombopag, a thrombopoietin receptor agonist, was initiated, resulting in the normalization of platelet counts within six weeks. Our case emphasizes the diagnostic challenges and intricate treatment landscape of CMML-associated ITP, suggesting eltrombopag as a potential therapeutic option in refractory cases. The study contributes to the evolving understanding of the complex interplay between myeloid disorders and immune-mediated hematological conditions, calling for personalized and multidisciplinary approaches to enhance patient outcomes.
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Kabuki syndrome (KS) is now listed in the Human Inborn Errors of Immunity (IEI) Classification. It is a rare disease caused by KMT2D and KDM6A variants, dominated by intellectual disability and characteristic facial features. Recurrently, pathogenic variants are identified in those genes in patients examined for autoimmune cytopenia (AIC), but interpretation remains challenging. This study aims to describe the genetic diagnosis and the clinical management of patients with paediatric-onset AIC and KS. Among 11 patients with AIC and KS, all had chronic immune thrombocytopenic purpura, and seven had Evans syndrome. All had other associated immunopathological manifestations, mainly symptomatic hypogammaglobinaemia. They had a median of 8 (5-10) KS-associated manifestations. Pathogenic variants were detected in KMT2D gene without clustering, during the immunological work-up of AIC in three cases, and the clinical strategy to validate them is emphasized. Eight patients received second-line treatments, mainly rituximab and mycophenolate mofetil. With a median follow-up of 17 (2-31) years, 8/10 alive patients still needed treatment for AIC. First-line paediatricians should be able to recognize and confirm KS in children with ITP or multiple AIC, to provide early appropriate clinical management and specific long-term follow-up. The epigenetic immune dysregulation in KS opens exciting new perspectives.