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Cureus Apr 2024Gaucher's disease is a rare autosomal recessive inborn error of metabolism. As the presentation of this disease is similar to more common diseases like malaria, portal...
Gaucher's disease is a rare autosomal recessive inborn error of metabolism. As the presentation of this disease is similar to more common diseases like malaria, portal hypertension, hematological disorders, and kala-azar, this rare disease may not be thought of as a differential diagnosis, and a high index of suspicion is required to avoid diagnostic delay. We report a case of type 1 Gaucher's disease in an adult male born out of a consanguineous marriage. He was from a region where the prevalence of infectious diseases and sickle cell anemia is high. He presented with abdominal distension, hepatosplenomegaly, and pancytopenia. Bone marrow biopsy showed the presence of Gaucher cells. Glucocerebrosidase levels showed decreased enzyme activity. The genetic study revealed a very rare mutation that has not been reported in the 1000 Genomes database till now. Retrospectively, the most important clue was his birth out of a consanguineous marriage of his parents.
PubMed: 38779248
DOI: 10.7759/cureus.58706 -
Journal of Investigative Medicine High... 2024The association between Hairy Cell Leukemia (HCL) and non-tuberculous mycobacterial infections (NTMs) is well described, most notably . The exact pathophysiology is not... (Review)
Review
The association between Hairy Cell Leukemia (HCL) and non-tuberculous mycobacterial infections (NTMs) is well described, most notably . The exact pathophysiology is not known. We report a case of a 31-year-old male with concomitantly diagnosed HCL and disseminated infection who presented with rash, pancytopenia, and bulky axillary lymphadenopathy. The was initially diagnosed through use of cell-free DNA detection and confirmed by bone marrow and lymph node cultures. Hairy Cell Leukemia was diagnosed with peripheral flow cytometry and confirmed via the same bone marrow sample. His HCL was put into remission with a single course of cladribine and rituximab chemotherapy; however, his infection persisted for 6 months despite aggressive antimicrobial and surgical therapy. It was finally controlled using high-dose rifampin in combination with azithromycin and ethambutol. This case highlights the known link between HCL and Furthermore, it hints at potential causes beyond chemotherapy-induced immunocompromise. Notable possibilities include HCL cells acting as sanctuary sites for to evade the immune system, and subclinical infections causing NLRP3 inflammasome overactivation to trigger the oncogenic transformation to HCL. More research into the pathophysiologic link between HCL and infections would allow for more effective prevention, diagnosis, and treatment of these severe atypical infections which are the major cause of morbidity in the cladribine era of HCL treatment.
Topics: Humans; Male; Leukemia, Hairy Cell; Adult; Mycobacterium Infections, Nontuberculous; Mycobacterium kansasii; Cladribine; Rifampin; Azithromycin; Rituximab
PubMed: 38767131
DOI: 10.1177/23247096241253343 -
Cureus Apr 2024Patients with anorexia nervosa (AN) often have complications of hematologic abnormalities and pancytopenia, which can be fatal. In patients with AN, the rates of anemia,...
Patients with anorexia nervosa (AN) often have complications of hematologic abnormalities and pancytopenia, which can be fatal. In patients with AN, the rates of anemia, leukopenia, and thrombocytopenia have been reported as 16.7-39%, 7.9-39%, and 5-11%, respectively; in patients with severe AN, the rates of anemia, leukopenia, thrombocytopenia, and pancytopenia have been reported as 47-83%, 49.5-79%, 16.8-25%, and 16.4-23%, respectively. Hematologic abnormalities are often associated with morphological myeloid transformations such as hypoplasia, aplasia, and gelatinous marrow transformation (GMT). Hypocellularity, such as hypoplastic or aplastic, often results in a dry tap, whereas GMT does not usually result in this because of the aspiration of gelatinous material. Therefore, bone marrow aspiration in patients with pancytopenia with AN usually does not show a dry tap. The bone marrow adipocyte (BMA) volume increases in patients with AN, except in those with severe malnutrition. Patients with AN experiencing pancytopenia often exhibit GMT associated with atrophy of the originally increased volume of BMAs. Herein, we report the case of a patient with pancytopenia with AN who exhibited a dry tap on bone marrow aspiration. A bone marrow biopsy revealed sparse GMT with decreased BMA volume and areas of hematopoietic cells, adipocytes, and no GMT. A 13-year-old Japanese girl weighing 25.8 kg (BMI: 10.0 kg/m) was admitted to our hospital and received nutritional therapy. The patient presented with pancytopenia and fever, prompting the conduct of bone marrow examinations. Bone marrow aspiration resulted in a dry tap, and the bone marrow biopsy revealed sparse GMT with a decreased volume of BMAs. Additionally, an area devoid of hematopoietic cells, adipocytes, or GMT was observed. Nutritional therapy resulted in weight gain and improved pancytopenia. Upon discharge, the patient weighed 40.0 kg (BMI: 15.5 kg/m) with a normal WBC count, hemoglobin levels, and platelet count. It is significant to study hematological and bone marrow changes because patients with AN often present with hematologic abnormalities. The identification of sparse GMT, which is associated with a decrease in BMA volume and the presence of an area devoid of hematopoietic cells, adipocytes, or GMTs, is a novel finding. The improvement in pancytopenia following nutritional therapy suggests a link between myeloid transformation and malnutrition. Consequently, in patients with pancytopenia associated with AN exhibiting these bone marrow findings, nutritional therapy is necessary.
PubMed: 38756270
DOI: 10.7759/cureus.58390 -
JPGN Reports May 2024Protein-losing enteropathy associated with collagenous colitis (CC) is a rare but described entity in the adult population. However, literature regarding this in the...
Protein-losing enteropathy associated with collagenous colitis (CC) is a rare but described entity in the adult population. However, literature regarding this in the pediatric population is scarce. Here we describe a 2-year-old female who presented with fevers, accompanied by nonbloody, watery diarrhea, and decreased oral intake. Work-up was significant for severe hypoalbuminemia at 1.5 grams per deciliter (g/dL), pancytopenia, and elevated fecal alpha-1-antitrypsin at 1.13 milligrams per grams (mg/g). Gastrointestinal mucosal evaluation was normal endoscopically; however, histology was consistent with CC. She responded to 12-week treatment with budesonide with resolution of symptoms and laboratory values. At this point, she has not had a recurrence 1 year later.
PubMed: 38756128
DOI: 10.1002/jpr3.12051 -
JPGN Reports May 2024Herbal and dietary supplements (HDS) are a common etiology of drug induced liver injury and, specifically, Herbalife® supplements have been implicated. Hepatitis...
Herbal and dietary supplements (HDS) are a common etiology of drug induced liver injury and, specifically, Herbalife® supplements have been implicated. Hepatitis associated aplastic anemia (HAAA) is a rare and potentially fatal complication after acute hepatitis characterized by pancytopenia. While there have been rare cases of HDS leading to HAAA, no cases of Herbalife® induced liver injury leading to HAAA have been reported from this specific HDS. We report a unique case of severe aplastic anemia developing after sub-fulminant liver failure associated with chronic HDS use. This case illustrates the importance of warning the public about HDS as their use continues to increase. It is not only important to recognize HDS as etiology, but also for healthcare providers to carefully monitor these patients after resolution of liver injury for the development of HAAA.
PubMed: 38756121
DOI: 10.1002/jpr3.12041 -
Frontiers in Oncology 2024Osteolytic lesions are infrequently observed in adult patients with acute myeloid leukemia (AML). This report details the case of a 66-year-old male patient who...
Osteolytic lesions are infrequently observed in adult patients with acute myeloid leukemia (AML). This report details the case of a 66-year-old male patient who presented with myeloid sarcoma (MS), osteolytic lesion and pancytopenia. Effective treatments were delayed due to diagnostic challenges and the rapid progression of the disease. It is essential to consider AML in the differential diagnosis when faced with a patient presenting osteolytic lesions and pancytopenia.
PubMed: 38751817
DOI: 10.3389/fonc.2024.1364266 -
Internal Medicine (Tokyo, Japan) May 2024We herein report a patient with systemic lupus erythematosus (SLE) and neuropsychiatric SLE (NPSLE), who had been misdiagnosed with schizophrenia for a long time and...
We herein report a patient with systemic lupus erythematosus (SLE) and neuropsychiatric SLE (NPSLE), who had been misdiagnosed with schizophrenia for a long time and presented with pancytopenia. Brain magnetic resonance imaging revealed sporadic punctate hyperintense areas in the cerebral white matter. Single-photon emission computed tomography revealed a clear decrease in blood flow from the parietotemporal association area to the temporal lobe. NPSLE is a serious organ complication that significantly worsens the SLE prognosis. NPSLE symptoms are diverse and difficult to diagnose and differentiate from those of other neuropsychiatric disorders, especially in an early onset.
PubMed: 38749733
DOI: 10.2169/internalmedicine.3202-23 -
Radiology Case Reports Aug 2024A 59-year-old man with pancytopenia underwent 18F-fluorodeoxyglucose positron emission tomography/computed tomography for suspected carcinomatosis. The scan revealed...
A 59-year-old man with pancytopenia underwent 18F-fluorodeoxyglucose positron emission tomography/computed tomography for suspected carcinomatosis. The scan revealed diffuse bone marrow uptake, prompting further investigation. Bone marrow analysis revealed no malignant cells; however, erythroblasts with cytoplasmic vacuolization were observed. Subsequent testing showed low serum copper and ceruloplasmin levels, indicating copper deficiency. Copper supplementation resulted in significant improvement in cytopenia. Notably, the bone marrow uptake on subsequent scans decreased significantly. This case highlights the importance of considering copper deficiency as a potential cause of diffuse bone marrow uptake of F-fluorodeoxyglucose on positron emission tomography/computed tomography.
PubMed: 38737170
DOI: 10.1016/j.radcr.2024.03.094 -
JIMD Reports May 2024Methionine synthase reductase deficiency (cblE) is a rare autosomal recessive inborn error of cobalamin metabolism caused by pathogenic variants in the methionine...
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?
Methionine synthase reductase deficiency (cblE) is a rare autosomal recessive inborn error of cobalamin metabolism caused by pathogenic variants in the methionine synthase reductase gene (). Patients usually exhibit early-onset bone marrow failure with pancytopenia including megaloblastic anemia. The latter can remain isolated or patients may present developmental delay and rarely macular dysfunction. Treatment mostly includes parenteral hydroxocobalamin to maximize the residual enzyme function and betaine to increase methionine concentrations and decrease homocysteine accumulation. We report herein 2 cblE siblings diagnosed in the neonatal period with isolated pancytopenia who, despite treatment, exhibited in adulthood hemolytic anemia (LDH >11 000 U/L, undetectable haptoglobin, elevated unconjugated bilirubin) which could finally be successfully treated by hydroxocobalamin dose escalation. There was no obvious trigger apart from a parvovirus B19 infection in one of the patients. This is the first report of such complications in adulthood. The use of LDH for disease monitoring could possibly be an additional useful biomarker to adjust hydroxocobalamin dosage. Bone marrow infection with parvovirus B19 can complicate this genetic disease with erythroblastopenia even in the absence of an immunocompromised status, as in other congenital hemolytic anemias. The observation of novel hemolytic features in this rare disease should raise awareness about specific complications in remethylation disorders and plea for hydroxocobalamin dose escalation.
PubMed: 38736634
DOI: 10.1002/jmd2.12422 -
Saudi Medical Journal May 2024To investigate the prevalence of hematologic findings and the relationship between hemogram parameters and brucellosis stages in patients.
OBJECTIVES
To investigate the prevalence of hematologic findings and the relationship between hemogram parameters and brucellosis stages in patients.
METHODS
This multi-center study included patients older than 16 years of age who were followed up with a diagnosis of brucellosis. Patients' results, including white blood cell, hemoglobin, neutrophil, lymphocyte, monocyte, mean platelet volume, platelet and eosinophil counts were analyzed at the initial diagnosis.
RESULTS
In this study 51.3% of the patients diagnosed with brucellosis were male. The age median was 45 years for female and 41 years for male. A total of 55.1% of the patients had acute brucellosis, 28.2% had subacute, 7.4% had chronic and 9% had relapse. The most common hematologic findings in brucellosis patients were anemia (25.9%), monocytosis (15.9%), eosinopenia (10.3%), and leukocytosis (7.1%). Pancytopenia occurred in 0.8% of patients and was more prominent in the acute phase. The acute brucellosis group had lower white blood cell, hemoglobin, neutrophil, eosinophil, and platelet counts and mean platelet volume, and higher monocyte counts compared to subacute and chronic subgroups.
CONCLUSION
It was noteworthy that in addition to anemia and monocytosis, eosinopenia was third most prominent laboratory findings in the study. Pancytopenia and thrombocytopenia rates were low.
Topics: Humans; Brucellosis; Male; Female; Adult; Middle Aged; Turkey; Young Adult; Thrombocytopenia; Adolescent; Aged; Anemia; Blood Cell Count
PubMed: 38734423
DOI: 10.15537/smj.2024.45.5.20230847