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.

Aplastic anemia (AA) is a rare, potentially catastrophic hematopoiesis failure manifested by pancytopenia and bone marrow aplasia. AA occurrence in Systemic Lupus Erythematosus (SLE) patients is extremely rare. The diagnosis may be delayed due to other possible pancytopenia etiologies. Confirmation of peripheral cytopenias diagnosis necessitates a bone marrow aspiration. The management of AA is challenging, and the literature reported using glucocorticoids, danazol, plasmapheresis, cyclophosphamide, intravenous immunoglobulin, and cyclosporine. We report two cases of SLE patients who presented with pancytopenia, with bone marrow biopsy confirmed AA. One case was treated with cyclophosphamide but unfortunately succumbed to Acute Respiratory Distress Syndrome (ARDS), while the other case was managed with rituximab with a good response. Interestingly, both patients were on azathioprine before the diagnosis of AA. A comprehensive search for reported cases of AA in PubMed, Scopus, and the Directory of Open Access Journals databases was performed to enhance the understanding of the diagnostic and management challenges associated with AA in SLE, facilitating ongoing exploration and research in this field. The decision to do a BM aspiration and biopsy is recommended for SLE patients with an abrupt decline in blood counts and previously stable blood counts.

Sarcoidosis presents in a variety of ways, but historically, renal involvement has been considered rare with an incidence of 0.7% and is seldom the presenting feature of the illness. Concomitant involvement of kidney and bone marrow is extremely rare. Atypical forms of presentation, such as in this case, may pose a true diagnostic challenge. A 20-year-old African-American male presented to the emergency department with vague symptoms including fatigue, malaise, anorexia, right-sided lower back pain, and nausea. Acute kidney injury was clearly evident, creatinine was 19.78 mg/dL (normal range 0.60-1.20 mg/dL), and BUN was 124.0 mg/dL (normal range 5.0-25.0 mg/dL). Laboratory results were also remarkable for leukopenia, microcytic anemia, hyperkalemia, anion gap metabolic acidosis, and non-PTH dependent hypercalcemia. Interestingly, urinalysis was equivocal and both chest x-ray (CXR) and abdominopelvic computed tomography (CT) scan were unrevealing. The patient was admitted to the hospital and required renal replacement therapy to stabilize his clinical condition while planning for a renal biopsy that was later performed. While awaiting pathological results, pancytopenia developed, and a bone marrow biopsy was then obtained. On further investigation, angiotensin-converting enzyme (ACE) turned out to be significantly elevated suggesting sarcoidosis. Renal biopsy showed moderate acute tubular injury, tubulitis, extensive interstitial edema, and infiltration by numerous non-caseating granulomas, which confirmed the diagnosis of sarcoidosis. Bone marrow histopathology revealed hypocellularity but no granulomatous infiltration. The patient remained largely asymptomatic throughout his hospital stay, with no signs or symptoms suggesting the involvement of other organs. High-dose corticosteroids were started and continued outpatient after discharge while still on hemodialysis. Pancytopenia resolved while on glucocorticoids and improvement in renal function was such that after roughly two months of steroids, renal replacement therapy was no longer necessary. Overall, kidney injury severe enough to require hemodialysis associated with pancytopenia in a previously healthy 20-year-old constitutes a rather rare sarcoidosis presentation. This highlights the importance of considering sarcoidosis as a possible cause of kidney and bone marrow dysfunction and emphasizes the need for timely biopsy to facilitate accurate diagnosis and early initiation of appropriate therapy to avoid delayed or inadequate care, especially considering that even severe damage is potentially reversible when identified early and treated promptly.

Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired haematopoietic stem cell disease characterized by complement-mediated intravascular hemolysis, thrombosis, and bone marrow failure. Eculizumab and ravulizumab are anti-C5 monoclonal antibodies that reduce hemolysis, anaemia and thrombotic risk, but are associated with increased risk of infection with encapsulated bacteria, including Neisseria meningitidis. We report a case of life-threatening infection by non-groupable Neisseria meningitidis in a young PNH patient treated with ravulizumab. Despite prompt admission to the intensive care unit, microbe isolation was delayed due to the negativity of capsular antigens, and the patient required intubation, dialysis, and transfusion support for pancytopenia. Notably, PNH disease activity remained controlled and no additional anti-C5 doses were administered. Increasing awareness regarding septic risk in PNH patients on complement inhibitors despite vaccinations is pivotal. A warning about serotypes generally not pathogenetic and not covered by vaccination, such as non-capsulated forms, is emerging.

Despite recent advancements, treatment of cytopenia due to bone marrow failures (BMF) and myeloid neoplasms remains challenging. Androgens promote renewal and maturation of blood cells and may be beneficial in these forms. Here we report a systematic review of androgens use as single agent in hematologic conditions. Forty-six studies, mainly retrospective with various androgen types and doses, were included: 12 on acquired aplastic anemia (AA), 11 on inherited BMF, 17 on myelodysplastic syndromes (MDS), and 7 on myelofibrosis. Responses ranged from 50 to 70% in inherited BMF, 40-50% in acquired AA and MDS, while very limited evidence emerged for myelofibrosis. In acquired AA, response was associated with presence of non-severe disease; in MDS androgens were more effective on thrombocytopenia or mild to moderate anemia, whilst limited benefit was observed for transfusion dependent anemia. Toxicity profile mainly consisted of virilization and liver enzyme elevation, whilst the risk of leukemic evolution remains controversial.

BACKGROUND: Treatment of Wilson\'s disease (WD), an inherited disease characterized by copper overload, is lifelong and there is the possibility that copper deficiency (CD) may occur. We systematically reviewed the literature to describe treatment patterns, symptoms and outcomes associated with CD.
METHODS: Using preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines, the PubMed database was searched up to 6 April 2023.
RESULTS: Across 17 articles, 20 cases of CD were described, most commonly (15 cases) in WD patients treated with zinc salts (ZS), less often on combined chelator and ZS therapy (3 cases), molybdate salts plus ZS (1), or molybdate alone (1). CD symptoms occurred insidiously, including sideroblastic anemia, neutropenia, axonal sensory neuropathy, posterior cord myelopathy and increased ratio of epileptic seizures (or epilepsy). CD diagnosis was based on symptoms and severely reduced urinary copper excretion (<20 µg/24 h [<0.3 µmol/24 h] on ZS, or <100 µg/24 h [<1.6 µmol/24 h] on chelators) with low total serum copper and ceruloplasmin.
CONCLUSIONS: Awareness of CD and regular monitoring of copper metabolism is needed during WD treatment. Temporary cessation of anti-copper treatment usually reverses serum copper reductions as well as pancytopenia; however, some symptoms, especially neuropathy and myelopathy, may persist.

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Toxicity associated with low doses of methotrexate (MTX) is low, but it may be fatal. Bone marrow suppression and mucositis are among the common side effects of low dose MTX toxicity. Different risk factors have been reported for toxicities associated with low doses of MTX, including accidental use of higher doses, renal dysfunction, hypoalbuminemia, and polypharmacy. In this paper, we present a female patient who had mistakenly used 7.5 mg of MTX daily instead of the same dose of MTX on Thursday and Friday. She was presented with mucositis and diarrhea to the emergency department. Moreover, we searched the databases Scopus and PubMed for available studies and case reports on toxicities associated with MTX dosing errors. The most frequently observed toxicities included gastrointestinal lesions, nausea, vomiting, skin lesions, and bone marrow suppression. Leucovorin, hydration, and urine alkalinization were among the most frequently used treatments. Finally, we summarize the data on the toxicities of low doses of MTX in different diseases.

Pulmonary Tuberculosis (TB) is common in China, but tuberculosis with coagulation disorders and pancytopenia have rarely been reported in the past. In this report presented, a 70-year-old female was admitted to the hospital with poor appetite, dark urine, nausea, vomiting, fatigue, and bilateral lower limb edema; chest CT suggested diffuse infectious lesions in both lungs, coagulation dysfunction, and complete pancytopenia, which was initially considered to be caused by severe infection. However, the patient\'s symptoms did not improve by potent empiric antibiotics treatment, and a repeat chest CT showed that the lung lesions deteriorated more than before, and coagulation disorders and pancytopenia did not improve. Finally, the TB patient tested positive for enzyme-linked immunospot assay (ELISPOT) and metagenomic sequencing (mNGS) of Mycobacterium tuberculosis (MTB) using bronchoscopic alveolar lavage. So ati-TB was initiated with HRftELfx (isoniazid, 0.3 g qd; rifapentine, 0.45 g biw; ethambutol, 0.75 g qd; and levofloxacin, 0.5 g qd) regimen. Eventually, the patient\'s clinical symptoms improved significantly, the pulmonary lesions were absorbed, and the coagulation function and blood cell count returned to normal, which achieved a satisfactory treatment effect.

Hairy cell leukemia (HCL) is a rare malignancy that primarily affects the bone marrow, peripheral blood, and spleen. The most common presenting features of HCL are splenomegaly or cytopenias causing fatigue, infections, or hemorrhagic manifestations. Symptoms involving the soft tissue or bone are rare. HCL can rarely present with immune-mediated polyarthritis. This presentation can be confused for other pathological entities, such as Felty\'s syndrome, and can be differentiated from this with bone marrow biopsy. This case report looks into a rare presentation of HCL in which transient polyarthritis of the knees was the presenting symptom.