Paroxysmal nocturnal hemoglobinuria (PNH) results from a mutation in the phosphatidylinositol glycan class-A gene which causes uncontrolled complement activation with resultant intravascular ...hemolysis and its sequelae. Eculizumab is a terminal complement inhibitor that blocks this complement activation and has revolutionized the treatment of PNH but comes with an enormous price which can have catastrophic health expenditure in low-middle income countries (LMIC) like Nepal. Here, we discuss the potential way forwards in the treatment of PNH in Nepal and other LMICs.
Melioidosis is a life-threatening infectious disease that is caused by gram negative bacteria Burkholderia pseudomallei. This bacteria occurs as an environmental saprophyte typically in endemic ...regions of south-east Asia and northern Australia. Therefore, patients with melioidosis are at high risk of being misdiagnosed and/or under-diagnosed in South Asia.
Here, we report two cases of melioidosis from Nepal. Both of them were diabetic male who presented themselves with fever, multiple abscesses and developed sepsis. They were treated with multiple antimicrobial agents including antitubercular drugs before being correctly diagnosed as melioidosis. Consistent with this, both patients were farmer by occupation and also reported travelling to Malaysia in the past. The diagnosis was made consequent to the isolation of B. pseudomallei from pus samples. Accordingly, they were managed with intravenous meropenem followed by oral doxycycline and cotrimoxazole.
The case reports raise serious concern over the existing unawareness of melioidosis in Nepal. Both of the cases were left undiagnosed for a long time. Therefore, clinicians need to keep a high index of suspicion while encountering similar cases. Especially diabetic-farmers who present with fever and sepsis and do not respond to antibiotics easily may turn out to be yet another case of melioidosis. Ascertaining the travel history and occupational history is of utmost significance. In addition, the microbiologist should be trained to correctly identify B. pseudomallei as it is often confused for other Burkholderia species. The organism responds only to specific antibiotics; therefore, correct and timely diagnosis becomes crucial for better outcomes.
Waldenström macroglobulinemia is a rare hematological malignancy and is the most common diagnosis in patients with hyperviscosity syndrome. Bilateral central retinal vein occlusion as an initial ...presentation of hyperviscosity syndrome in Waldenström macroglobulinemia is rare.
A 42-year-old Nepalese male presented with sudden-onset bilateral painless blurring of vision. Fundus examination revealed bilateral, diffusely dilated, tortuous retinal veins and intraretinal deep blot hemorrhages in all four quadrants of the retina in both eyes; features of bilateral central retinal vein occlusion. Serum electrophoresis showed hypoalbuminemia with an immunoglobulin M kappa monoclonal spike. Bone marrow picture and immunohistochemistry analysis were suggestive of lymphoplasmacytic lymphoma. The patient received systemic therapy for Waldenström macroglobulinemia, along with intravitreal bevacizumab.
Adequate hydration, plasmapheresis, and a combination of bortezomib, dexamethasone, and rituximab regimen as a systemic therapy may represent an ideal choice for patients with hyperviscosity in Waldenström macroglobulinemia.
A 26‐year‐old man presented with difficulty swallowing, dizziness, hiccups, and Horner's syndrome. Clinical and neuroimaging collaboration confirmed lateral medullary syndrome. Polycythemia was ...identified as the only attributable risk factor. However, the cause of polycythemia could not be assessed further. Polycythemia was managed with phlebotomy.
Lateral medullary syndrome in a previously healthy individual may be an initial presentation of polycythemia.
Background
Patients post allogeneic stem cell transplantation (alloSCT) are expected to be at high risk of tuberculosis (TB) owing to underlying immunosuppression. We conducted a retrospective study ...in patients post alloSCT for clinical features and factors associated with TB.
Methods
Records of all patients transplanted from January 1, 2012 until December 31, 2015 were reviewed. Diagnosis of TB was considered if Mycobacterium tuberculosis was cultured from clinical samples or acid‐fast bacilli (AFB) were demonstrated on histopathology/smears. A presumptive TB diagnosis was considered in the presence of signs and symptoms suggestive of TB with epithelioid cell granulomas, without AFB.
Results
In 175 eligible patients, TB was detected in 5 patients (pulmonary = 4, lymph node = 1), with incidence of 2.84% at median of 258 (157‐639) days after transplantation. Cumulative incidence rate of TB among the patients undergoing alloSCT was calculated to be 1.9/100 person‐years. Median duration of symptoms was 20 days till diagnosis was confirmed. All patients were started on four‐drug anti‐tubercular therapy (ATT) with clinical/radiological response in all. Two patients developed hepatotoxicity (transaminitis, n = 1; hyperbilirubinemia, n = 1) following ATT. Presence of chronic graft‐versus‐host disease (GVHD) (P = .008) and steroid‐refractory GVHD (P = .001) was found to be significantly associated with TB.
Conclusion
TB should be suspected in patients with unexplained fever post alloSCT. Active GVHD and ongoing immunosuppression/steroids are possible risk factors. Early diagnosis and treatment can salvage most patients. Hepatotoxicity following ATT is a potential concern.
Evans syndrome and tuberculosis could be predisposing factors for one another, or there may be a common pathophysiological denominator for the co‐occurrence. Further research is needed for a better ...understanding of pathophysiology and treatment.
Evans syndrome and tuberculosis could be predisposing factors for one another, or there may be a common pathophysiological denominator for the co‐occurrence. Further research is needed for a better understanding of pathophysiology and treatment.
Central nervous system (CNS) manifestation with cranial nerve palsy in multiple myeloma (MM) is a rare manifestation. Plasmacytoma originates from the bones of the skull base in 3% patients with MM ...but rarely develops from the soft tissues of the nasal cavity and paranasal sinuses. Here, we present a case of 68‐year‐old male patient with multiple myeloma, clivus bone plasmacytoma, and cavernous sinus syndrome.
Clivus bone plasmacytoma with MM is a rare condition. Our patient presented with the pain in frontal and periorbital region, blurry vision and backache. Any patient presenting with these symptoms along with lytic bone lesions on imaging should be evaluated for MM.
β‐thalassemia heterozygosity can cause significant iron overload when accompanied by HFE gene mutations and inappropriate iron supplementation.
β‐thalassemia heterozygosity can cause significant iron ...overload when accompanied by HFE gene mutations and inappropriate iron supplementation.
Introduction: Essential thrombocythemia, a myeloproliferative condition with an increased number of circulating platelets, is a rare hematological malignancy. The aim of the study is to find out the ...prevalence of essential thrombocythemia among patients with myeloproliferative neoplasms presenting in haematology unit of a tertiary care centre.
Methods: This was a descriptive cross-sectional study at a tertiary care centre from September, 2020 to September, 2021 (Reference number: 48 (6-11) E2077/076). All the patients with a diagnosis of essential thrombocythemia and willing to give consent were included in the study while the patients with incomplete investigations were excluded. A sample size of 72 patients was taken and convenience sampling was done. Data were entered in Microsoft Excel 2010 and analysis was done by the Statistical Package for the Social Sciences Version 22.0. Point estimate at 95% Confidence Interval was calculated along with frequency and proportion for binary data along with mean and standard deviation for continuous data.
Results: Among 72 patients with myeloproliferative neoplasms, the prevalence of essential thrombocythemia was found to be 17 (23.61%) (13.80-33.42 at a 95% Confidence Interval). The mean age of patients was 55.41±11.20 years with a male to female ratio of 9:8. The mean hemoglobin level and platelet count in patients were found to be 11.20±2.1 g/dl and 677000±262067.70 cells/mm3. Twelve (70.58%) of total patients were under low risk of essential thrombocythemia while 3 (17.64%) of them were at high risk.
Conclusions: The prevalence of essential thrombocythemia was similar to other studies done in similar settings.
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