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Surgical Case Reports Apr 2024Spontaneous clearance of chronic hepatitis C virus (HCV) is rare in adults. A T-lymphocyte response is thought to be involved in HCV-RNA clearance. Splenectomy...
BACKGROUND
Spontaneous clearance of chronic hepatitis C virus (HCV) is rare in adults. A T-lymphocyte response is thought to be involved in HCV-RNA clearance. Splenectomy reportedly has a beneficial effect on T cell immune function in patients with cirrhosis. To the best of our knowledge, the present report is the first to describe spontaneous clearance of serum HCV-RNA within 1 year after splenectomy in a patient with cirrhosis.
CASE PRESENTATION
A 55-year-old man with HCV cirrhosis was transferred to our institution with advanced pancytopenia, splenomegaly, and gastric varices. He had a 1-year history of ascites, edema, and general fatigue. The patient had a Child-Pugh score of 8 and serological type 1 HCV; the HCV-RNA level was 4.7 log IU/mL. Contrast-enhanced computed tomography showed gastric varices and marked splenomegaly (estimated spleen volume of 2175 mL). Esophagogastroduodenoscopy revealed enlarged gastric varices with no red color sign, and the varices were larger than those 1 year prior. He was diagnosed with decompensated HCV-related liver cirrhosis and portal hypertension. We considered direct-acting antiviral (DAA) therapy; however, DAA therapy was not approved in Japan for patients with decompensated cirrhosis at that time. Hand-assisted laparoscopic splenectomy was performed to improve the worsening portal hypertension. Further, we planned the initiation of DAA therapy after surgery, when such therapy would become available. DAA therapy was approved 1 year after splenectomy. At that time, we measured the HCV-RNA level before the initiation of DAA therapy; unexpectedly, however, serum HCV-RNA was not detectable, and the virus continued to disappear during the following 4 years. His liver function (total bilirubin, albumin, and prothrombin time) and pancytopenia improved during the 5 years postoperatively. The serum aspartate and alanine aminotransferase levels normalized between 1 and 5 years postoperatively. Esophagogastroduodenoscopy showed no change in the gastric varices during the 5 years after surgery. The patient remained asymptomatic and continued to do well.
CONCLUSIONS
We have presented a case of spontaneous clearance of HCV-RNA after splenectomy in a patient with cirrhosis and portal hypertension. Splenectomy may be associated with disappearance of HCV-RNA based on previous reports. More cases should be accumulated and evaluated.
PubMed: 38647617
DOI: 10.1186/s40792-024-01899-6 -
Indian Journal of Nephrology 2024Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition due to extensive and uncontrolled immune activation. There is sparse literature on HLH in...
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition due to extensive and uncontrolled immune activation. There is sparse literature on HLH in kidney transplant recipients. We report a case of a 27-year -old male kidney transplant recipient who presented with dengue fever and acute allograft dysfunction. Following improvement in allograft function with supportive treatment, he was found to have worsening pancytopenia with unusually high serum ferritin levels. Bone marrow aspiration performed for pancytopenia revealed hemophagocytosis. A diagnosis of HLH secondary to dengue viral infection was made based on the modified HLH diagnostic criteria (2009). He received supportive treatment and steroids and was discharged in a stable condition with normal kidney allograft functions. To our knowledge, this is the first case report of HLH secondary to dengue viral infection in a kidney allograft recipient managed successfully with timely diagnosis and appropriate treatment.
PubMed: 38645905
DOI: 10.4103/ijn.ijn_252_22 -
Journal of Hematology Apr 2024Hepatosplenic T-cell lymphoma (HSTCL) is rare and clinically very aggressive T-cell lymphoma. The majority of cases harbor γδ T-cell receptors (TCRs); however, in some...
Hepatosplenic T-cell lymphoma (HSTCL) is rare and clinically very aggressive T-cell lymphoma. The majority of cases harbor γδ T-cell receptors (TCRs); however, in some even rarer cases, tumor cells harbor αβ TCR. Recent studies suggest that αβ cases may have distinct morphological characteristics and demonstrate an even more aggressive course. In this case report, we demonstrated that in line with previous findings, αβ case of HSTCL had hemolytic presentation, demonstrated a very aggressive clinical course, and was unrelated to immunosuppression. Morphologically, tumor cells demonstrated diffuse growth pattern, blastoid morphology, and were CD8 positive on the background of CD4 small to medium reactive T cells. Additionally, the liver tumor cells demonstrated periportal localization, and in bone marrow, evidence of emperipolesis was noted. The latter finding may significantly contribute to pancytopenia characteristic, all types of HSTCL. Those unusual morphologic and clinical characteristics make diagnosis of this rare subtype of rare disease very challenging. More case analysis is required to establish whether αβ/γδ HSTCL are prognostically or morphologically significantly distinct entities.
PubMed: 38644989
DOI: 10.14740/jh1203 -
Annals of Hematology Jul 2024Aplastic anemia (AA) is a kind of bone marrow failure (BMF) characterized by pancytopenia with hypoplasia/aplasia of bone marrow. Immunosuppressive therapy and bone...
BACKGROUND
Aplastic anemia (AA) is a kind of bone marrow failure (BMF) characterized by pancytopenia with hypoplasia/aplasia of bone marrow. Immunosuppressive therapy and bone marrow transplantation are effective methods to treat severe aplastic anemia. However, the efficacy is limited by complications and the availability of suitable donors. This study aimed to determine whether any circulating druggable protein levels may have causal effects on AA and provide potential novel drug targets for AA.
METHODS
Genetic variants strongly associated with circulating druggable protein levels to perform Mendelian randomization (MR) analyses were used. The effect of these druggable protein levels on AA risk was measured using the summary statistics from a large-scale proteomic genome-wide association study (GWAS) and FinnGen database ( https://www.finngen.fi/en/access_results ). Multivariable MR analyses were performed to statistically adjust for potential confounders, including platelet counts, reticulocyte counts, neutrophil counts, and proportions of hematopoietic stem cells.
RESULTS
The data showed that higher level of circulating IFN-γ levels was causally associated with AA susceptibility. The causal effects of circulating IFN-γ levels on the AA were broadly consistent, when adjusted for platelet counts, reticulocyte counts, neutrophil counts and proportions of hematopoietic stem cells.
CONCLUSIONS
High levels of circulating IFN-γ levels might increase the risk of AA and might provide a potential novel target for AA.
Topics: Anemia, Aplastic; Humans; Mendelian Randomization Analysis; Interferon-gamma; Proteome; Genome-Wide Association Study; Male; Female
PubMed: 38644415
DOI: 10.1007/s00277-024-05746-4 -
The Journal of Obstetrics and... Apr 2024Therapy-related myeloid neoplasms (t-MNs) are often fatal and arise as late complications of previous anticancer drug treatment. No single-center case series has...
OBJECTIVE
Therapy-related myeloid neoplasms (t-MNs) are often fatal and arise as late complications of previous anticancer drug treatment. No single-center case series has examined t-MNs in epithelial ovarian cancer (EOC).
METHODS
All patients with EOC treated at Chiba University Hospital between 2000 and 2021 were included. We retrospectively analyzed the characteristics, clinical course, and outcomes of patients who developed t-MNs.
RESULTS
Among 895 cases with EOC, 814 cases were treated with anticancer drugs. The median follow-up period was 45 months (interquartile range, 27-81) months. Ten patients (1.2%) developed t-MNs (FIGO IIIA in one case, IIIC in three, IVA in one, and IVB in five). Nine patients were diagnosed with myelodysplastic syndrome and one with acute leukemia. One patient with myelodysplastic syndrome developed acute leukemia. The median time from the first chemotherapy administration to t-MN onset was 42 months (range, 21-94 months), with t-MN diagnoses resulting from pancytopenia in four cases, thrombocytopenia in three, and blast or abnormal cell morphology in four. The median number of previous treatment regimens was four (range, 1-7). Paclitaxel + carboplatin therapy was administered to all patients, gemcitabine and irinotecan combination therapy to nine, bevacizumab to eight, and olaparib to four. Six patients received chemotherapy for t-MN. All patients died (eight cancer-related deaths and two t-MN-related deaths). None of the patients was able to restart cancer treatment. The median survival time from t-MN onset was 4 months.
CONCLUSIONS
Patients with EOC who developed t-MN were unable to restart cancer treatment and had a significantly worse prognosis.
PubMed: 38634254
DOI: 10.1111/jog.15954 -
Cureus Apr 2024Aplastic anaemia (AA) is a rare and life-threatening haematologic disorder characterised by pancytopenia and bone marrow failure. Its occurrence during pregnancy is...
Aplastic anaemia (AA) is a rare and life-threatening haematologic disorder characterised by pancytopenia and bone marrow failure. Its occurrence during pregnancy is exceedingly rare, posing significant risks and management challenges for both the mother and the foetus. We present here the case of a 23-year-old female, six months pregnant, diagnosed with severe aplastic anaemia (AA), aiming to highlight the diagnostic challenges and management considerations of AA in pregnancy. Our case underscores the critical nature of considering aplastic anaemia in differential diagnosis for pregnant patients presenting with unexplained pancytopenia. Based on that, we performed a comprehensive literature review of the past 20 years of papers published in the English language identified through searches in PubMed, Medical Literature Analysis and Retrieval System Online (MEDLINE), Embase and the Cochrane Library, to provide an in-depth analysis of the current understanding of AA in pregnancy. We emphasise the necessity for cautious yet thorough investigation in such cases to avoid complications in both maternal and foetal health, focusing attention on the need for further research into safe and effective treatment protocols for managing AA in pregnancy, given the complexities introduced by the condition and its treatment on pregnancy outcomes.
PubMed: 38628381
DOI: 10.7759/cureus.58365 -
Rheumatology International Jul 2024Granulomatosis with polyangiitis is a systemic vasculitis. While the classic triad typically comprises otorhinolaryngologic, pulmonary, and renal manifestations, it is... (Review)
Review
Granulomatosis with polyangiitis is a systemic vasculitis. While the classic triad typically comprises otorhinolaryngologic, pulmonary, and renal manifestations, it is essential to recognize that granulomatosis with polyangiitis can affect any organ. Furthermore, reports have documented less common sites of involvement, such as the gastrointestinal tract. In this case-based review, we focus on a case of granulomatosis with polyangiitis presenting with intestinal perforation and the added challenge of concurrent pancytopenia.A 25-year-old female was diagnosed with granulomatosis with polyangiitis, with her clinical course progressing from joint pain to severe multi-organ involvement, including gastrointestinal complications. Treatment challenges emerged with the development of pancytopenia. While this may not directly result from granulomatosis with polyangiitis, it introduced an additional layer of complexity and delayed the induction of remission with immunosuppressants. Despite initial stabilization, an unexpected jejunal perforation occurred, requiring surgical intervention and subsequent postoperative care. The case underscores the complex nature of granulomatosis with polyangiitis and its potential complications. A literature search yielded discrete relevant cases in the context of our patient's intricate presentation, which has been summarized.We highlight the complexities in diagnosing and managing granulomatosis with polyangiitis-related complications, especially in uncommon presentations, and emphasize the importance of a personalized approach to patient care in these circumstances.
Topics: Humans; Granulomatosis with Polyangiitis; Female; Intestinal Perforation; Adult; Pancytopenia; Immunosuppressive Agents; Treatment Outcome; Jejunal Diseases
PubMed: 38627280
DOI: 10.1007/s00296-024-05586-5 -
BMC Pediatrics Apr 2024Systemic lupus erythematosus (SLE) and Wilson's disease (WD) are both systemic diseases that can affect multiple organs in the body. The coexistence of SLE and WD is... (Review)
Review
BACKGROUND
Systemic lupus erythematosus (SLE) and Wilson's disease (WD) are both systemic diseases that can affect multiple organs in the body. The coexistence of SLE and WD is rarely encountered in clinical practice, making it challenging to diagnose.
CASE REPORT
We present the case of a 9-year-old girl who initially presented with proteinuria, haematuria, pancytopenia, hypocomplementemia, and positivity for multiple autoantibodies. She was diagnosed with SLE, and her blood biochemistry showed elevated liver enzymes at the time of diagnosis. Despite effective control of her symptoms, her liver enzymes remained elevated during regular follow-up. Laboratory tests revealed decreased serum copper and ceruloplasmin levels, along with elevated urinary copper. Liver biopsy revealed chronic active hepatitis, moderate inflammation, moderate-severe fibrosis, and a trend towards local cirrhosis. Genetic sequencing revealed compound heterozygous mutations in the ATP7B gene, confirming the diagnosis of SLE with WD. The girl received treatment with a high-zinc/low-copper diet, but her liver function did not improve. Upon recommendation following multidisciplinary consultation, she underwent liver transplantation. Unfortunately, she passed away on the fourth day after the surgery.
CONCLUSIONS
SLE and WD are diseases that involve multiple systems and organs in the body, and SLE complicated with WD is rarely encountered in the clinic; therefore, it is easy to misdiagnose. Because penicillamine can induce lupus, it is not recommended. Liver transplantation is indicated for patients with liver disease who do not respond to medical treatment with WD. However, further research is needed to determine the optimal timing of liver transplantation for patients with SLE complicated with WD.
Topics: Child; Female; Humans; Ceruloplasmin; Copper; Hepatolenticular Degeneration; Lupus Erythematosus, Systemic; Penicillamine
PubMed: 38622515
DOI: 10.1186/s12887-024-04713-2 -
International Journal of Molecular... Mar 2024Human herpesvirus 8 (HHV8)-associated diseases include Kaposi sarcoma (KS), multicentric Castleman disease (MCD), germinotropic lymphoproliferative disorder (GLPD),...
Human herpesvirus 8 (HHV8)-associated diseases include Kaposi sarcoma (KS), multicentric Castleman disease (MCD), germinotropic lymphoproliferative disorder (GLPD), Kaposi sarcoma inflammatory cytokine syndrome (KICS), HHV8-positive diffuse large B-cell lymphoma (HHV8+ DLBCL), primary effusion lymphoma (PEL), and extra-cavitary PEL (ECPEL). We report the case of a human immunodeficiency virus (HIV)-negative male treated for cutaneous KS, who developed generalized lymphadenopathy, hepatosplenomegaly, pleural and abdominal effusions, renal insufficiency, and pancytopenia. The excised lymph node showed features of concomitant involvement by micro-KS and MCD, with aggregates of HHV8+, Epstein Barr virus (EBV)-negative, IgM+, and lambda+ plasmablasts reminiscent of microlymphoma. Molecular investigations revealed a somatically hypermutated (SHM) monoclonal rearrangement of the immunoglobulin heavy chain (IGH), accounting for 4% of the B-cell population of the lymph node. Mutational analyses identified a pathogenic variant of and variants of unknown significance in , , , and . The patient died shortly after surgery. The histological features (HHV8+, EBV-, IgM+, Lambda+, MCD+), integrated with the molecular findings (monoclonal IGH, SHM+, mutated), supported the diagnosis of a monoclonal HHV8+ microlymphoma, with features intermediate between an incipient HHV8+ DLBCL and an EBV-negative ECPEL highlighting the challenges in the accurate classification of HHV8-driven lymphoid proliferations.
Topics: Male; Humans; Herpesvirus 8, Human; Sarcoma, Kaposi; Castleman Disease; Epstein-Barr Virus Infections; Herpesvirus 4, Human; HIV Infections; Immunoglobulin M
PubMed: 38612584
DOI: 10.3390/ijms25073775 -
Hematology (Amsterdam, Netherlands) Dec 2024Pathogenic variants in the genes ( and cause bone marrow failure with characteristic syndromic features. We report a case of a previously healthy, 3-year-old boy with...
Pathogenic variants in the genes ( and cause bone marrow failure with characteristic syndromic features. We report a case of a previously healthy, 3-year-old boy with no dysmorphology, who presented with severe aplastic anemia and a novel variant in the gene. His father, elder brother and sister who harbored the same variant were completely healthy. In the absence of a matched unrelated donor, he underwent a stem cell transplant from his sister, a 10/10 match. Almost 2 years later he developed donor type aplasia and succumbed to an invasive fungal infection after a failed haplograft from his mother. This case highlights the pathogenicity of this previously undescribed germline variation of uncertain significance in the gene and the value of comprehensive genetic testing for inherited bone marrow failures even in the absence of a positive family history or characteristic congenital abnormalities.
Topics: Male; Female; Child; Humans; Aged; Child, Preschool; Bone Marrow; Anemia, Aplastic; Transcription Factors; Hematopoietic Stem Cell Transplantation; Pancytopenia; Intracellular Signaling Peptides and Proteins
PubMed: 38597819
DOI: 10.1080/16078454.2024.2337160