Beyond the Crisis: Diagnostic Bias in a Sickle Cell Patient With Overlapping Pathologies

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Background

Sickle cell disease (SCD) patients often present with pain and fever, commonly attributed to vaso-occlusive crises (VOC), which can delay the diagnosis of other conditions. This highlights the need for reassessment and bias-aware clinical reasoning.

Case Presentation

A 27-year-old male with SCD, prior hip replacement, and cholecystectomy presented with whole-body pain. Labs supported VOC with anemia, elevated LDH, and reticulocytosis. Despite RUQ tenderness and a positive Murphy sign, the ultrasound was unremarkable, and he was admitted for VOC management. Persistent fever >48 hours prompted further evaluation with MRCP, revealing choledocholithiasis with common bile duct and mild biliary dilatation; later, his pain and fever resolved by ERCP, and he was discharged. However, he returned the following day with whole-body and right upper quadrant pain; lab tests showed normal hemoglobin, LDH, and reticulocyte levels, indicating no active sickling. On follow-ups, the patient started to have fever episodes again. Subsequent fevers prompted a CT scan, revealing pulmonary embolism involving the right interlobar pulmonary artery extending into the segmental and subsegmental vessels and right lower lobe pneumonia. He denied any cough or shortness of breath. Treatment with Eliquis for the embolism and antibiotics for hospital-acquired pneumonia resolved the fever and leukocytosis, but the patient persistently requested high-dose opioids despite normal sickling labs.

Discussion

This case highlights the need for diagnostic flexibility in SCD, as anchoring bias may cause clinicians to overlook other life-threatening conditions when VOC is suspected. The patient’s symptoms, initially suggestive of VOC, were later linked to choledocholithiasis, pulmonary embolism, and pneumonia, highlighting how overlapping complications can be misattributed to a single episode. The delayed diagnosis reflects cognitive and systemic factors, with few reports emphasizing the diagnostic delays when multiple SCD-related complications occur together. The stigma surrounding opioid use may also hinder timely care escalation. This case highlights the need for structured reassessment, red-flag criteria, and multidisciplinary collaboration to improve diagnostic accuracy and prevent fatal delays in complex SCD presentations.

Conclusions

This case emphasizes reassessing persistent symptoms in SCD, avoiding anchoring bias, and recognizing red flags. Multidisciplinary evaluation and bias-aware practices are key to accurate, timely care.

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Background

Sickle cell disease (SCD) patients often present with pain and fever, commonly attributed to vaso-occlusive crises (VOC), which can delay the diagnosis of other conditions. This highlights the need for reassessment and bias-aware clinical reasoning.

Case Presentation

A 27-year-old male with SCD, prior hip replacement, and cholecystectomy presented with whole-body pain. Labs supported VOC with anemia, elevated LDH, and reticulocytosis. Despite RUQ tenderness and a positive Murphy sign, the ultrasound was unremarkable, and he was admitted for VOC management. Persistent fever >48 hours prompted further evaluation with MRCP, revealing choledocholithiasis with common bile duct and mild biliary dilatation; later, his pain and fever resolved by ERCP, and he was discharged. However, he returned the following day with whole-body and right upper quadrant pain; lab tests showed normal hemoglobin, LDH, and reticulocyte levels, indicating no active sickling. On follow-ups, the patient started to have fever episodes again. Subsequent fevers prompted a CT scan, revealing pulmonary embolism involving the right interlobar pulmonary artery extending into the segmental and subsegmental vessels and right lower lobe pneumonia. He denied any cough or shortness of breath. Treatment with Eliquis for the embolism and antibiotics for hospital-acquired pneumonia resolved the fever and leukocytosis, but the patient persistently requested high-dose opioids despite normal sickling labs.

Discussion

This case highlights the need for diagnostic flexibility in SCD, as anchoring bias may cause clinicians to overlook other life-threatening conditions when VOC is suspected. The patient’s symptoms, initially suggestive of VOC, were later linked to choledocholithiasis, pulmonary embolism, and pneumonia, highlighting how overlapping complications can be misattributed to a single episode. The delayed diagnosis reflects cognitive and systemic factors, with few reports emphasizing the diagnostic delays when multiple SCD-related complications occur together. The stigma surrounding opioid use may also hinder timely care escalation. This case highlights the need for structured reassessment, red-flag criteria, and multidisciplinary collaboration to improve diagnostic accuracy and prevent fatal delays in complex SCD presentations.

Conclusions

This case emphasizes reassessing persistent symptoms in SCD, avoiding anchoring bias, and recognizing red flags. Multidisciplinary evaluation and bias-aware practices are key to accurate, timely care.

Background

Sickle cell disease (SCD) patients often present with pain and fever, commonly attributed to vaso-occlusive crises (VOC), which can delay the diagnosis of other conditions. This highlights the need for reassessment and bias-aware clinical reasoning.

Case Presentation

A 27-year-old male with SCD, prior hip replacement, and cholecystectomy presented with whole-body pain. Labs supported VOC with anemia, elevated LDH, and reticulocytosis. Despite RUQ tenderness and a positive Murphy sign, the ultrasound was unremarkable, and he was admitted for VOC management. Persistent fever >48 hours prompted further evaluation with MRCP, revealing choledocholithiasis with common bile duct and mild biliary dilatation; later, his pain and fever resolved by ERCP, and he was discharged. However, he returned the following day with whole-body and right upper quadrant pain; lab tests showed normal hemoglobin, LDH, and reticulocyte levels, indicating no active sickling. On follow-ups, the patient started to have fever episodes again. Subsequent fevers prompted a CT scan, revealing pulmonary embolism involving the right interlobar pulmonary artery extending into the segmental and subsegmental vessels and right lower lobe pneumonia. He denied any cough or shortness of breath. Treatment with Eliquis for the embolism and antibiotics for hospital-acquired pneumonia resolved the fever and leukocytosis, but the patient persistently requested high-dose opioids despite normal sickling labs.

Discussion

This case highlights the need for diagnostic flexibility in SCD, as anchoring bias may cause clinicians to overlook other life-threatening conditions when VOC is suspected. The patient’s symptoms, initially suggestive of VOC, were later linked to choledocholithiasis, pulmonary embolism, and pneumonia, highlighting how overlapping complications can be misattributed to a single episode. The delayed diagnosis reflects cognitive and systemic factors, with few reports emphasizing the diagnostic delays when multiple SCD-related complications occur together. The stigma surrounding opioid use may also hinder timely care escalation. This case highlights the need for structured reassessment, red-flag criteria, and multidisciplinary collaboration to improve diagnostic accuracy and prevent fatal delays in complex SCD presentations.

Conclusions

This case emphasizes reassessing persistent symptoms in SCD, avoiding anchoring bias, and recognizing red flags. Multidisciplinary evaluation and bias-aware practices are key to accurate, timely care.

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Brief Immunotherapy Yields Major Survival Benefits in Advanced NSCLC: A Case Report

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Tue, 09/02/2025 - 14:56

Background

Lung cancer, primarily non-small cell lung cancer (NSCLC), typically presents at an advanced stage with a five-year survival rate below 5%. Treatment includes platinum-based chemotherapy and targeted therapies for specific mutations, with immunotherapy significantly improving outcomes for patients with high PD-L1 expression.

Case Presentation

A 72-year-old male, diagnosed with advanced lung adenocarcinoma in 2020 after showing symptoms of brain metastases, underwent successful surgical and CyberKnife treatments. Despite no actionable genetic targets and a high PD-L1 expression of 80%, his treatment with 3-cycles of Keytruda was cut short due to a psoriatic arthritis flare-up, though it initially decreased his CEA levels significantly. Over the following years, fluctuating CEA levels and various imaging studies indicated some concerning changes, such as potential radionecrosis or recurrence of cancer in the lung. His refusal of biopsy and a preference for avoiding invasive treatments led to only surveillance. Later, an MRI showed some metastasis, and the patient agreed to a lung biopsy, which showed poorly differentiated carcinoma of pulmonary origin. The patient only agreed to restart treatment with Keytruda 4-years later after his initial treatment with Keytruda, under close rheumatological care, and received only two doses. Afterward, the patient lost follow-ups. 3-months later, Repeated CT scans of the chest, abdomen, and pelvis showed no evidence of mass or pathological lymph nodes, and repeated CEA was 3.4.

Discussion

Managing advanced lung adenocarcinoma, especially with complications like brain metastases and psoriatic arthritis, is challenging. Pembrolizumab treatment showed promise by significantly reducing CEA levels despite early discontinuation due to autoimmune side effects, indicating effective tumor response in patients with high PD-L1 expression. The case underscores the need for balancing cancer treatment with autoimmune management and highlights the importance of patient preferences in treatment plans. Ongoing surveillance and genomic profiling remain crucial for guiding therapy.

Conclusions

This case of a 70-year-old male with advanced lung adenocarcinoma highlights the significant impact of immunotherapy, particularly PD-1/ PD-L1 inhibitors like pembrolizumab, in NSCLC. Despite a brief treatment period, the patient experienced extended disease control, demonstrating the potential of immunotherapy to enhance survival and its broad applicability in oncology.

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Background

Lung cancer, primarily non-small cell lung cancer (NSCLC), typically presents at an advanced stage with a five-year survival rate below 5%. Treatment includes platinum-based chemotherapy and targeted therapies for specific mutations, with immunotherapy significantly improving outcomes for patients with high PD-L1 expression.

Case Presentation

A 72-year-old male, diagnosed with advanced lung adenocarcinoma in 2020 after showing symptoms of brain metastases, underwent successful surgical and CyberKnife treatments. Despite no actionable genetic targets and a high PD-L1 expression of 80%, his treatment with 3-cycles of Keytruda was cut short due to a psoriatic arthritis flare-up, though it initially decreased his CEA levels significantly. Over the following years, fluctuating CEA levels and various imaging studies indicated some concerning changes, such as potential radionecrosis or recurrence of cancer in the lung. His refusal of biopsy and a preference for avoiding invasive treatments led to only surveillance. Later, an MRI showed some metastasis, and the patient agreed to a lung biopsy, which showed poorly differentiated carcinoma of pulmonary origin. The patient only agreed to restart treatment with Keytruda 4-years later after his initial treatment with Keytruda, under close rheumatological care, and received only two doses. Afterward, the patient lost follow-ups. 3-months later, Repeated CT scans of the chest, abdomen, and pelvis showed no evidence of mass or pathological lymph nodes, and repeated CEA was 3.4.

Discussion

Managing advanced lung adenocarcinoma, especially with complications like brain metastases and psoriatic arthritis, is challenging. Pembrolizumab treatment showed promise by significantly reducing CEA levels despite early discontinuation due to autoimmune side effects, indicating effective tumor response in patients with high PD-L1 expression. The case underscores the need for balancing cancer treatment with autoimmune management and highlights the importance of patient preferences in treatment plans. Ongoing surveillance and genomic profiling remain crucial for guiding therapy.

Conclusions

This case of a 70-year-old male with advanced lung adenocarcinoma highlights the significant impact of immunotherapy, particularly PD-1/ PD-L1 inhibitors like pembrolizumab, in NSCLC. Despite a brief treatment period, the patient experienced extended disease control, demonstrating the potential of immunotherapy to enhance survival and its broad applicability in oncology.

Background

Lung cancer, primarily non-small cell lung cancer (NSCLC), typically presents at an advanced stage with a five-year survival rate below 5%. Treatment includes platinum-based chemotherapy and targeted therapies for specific mutations, with immunotherapy significantly improving outcomes for patients with high PD-L1 expression.

Case Presentation

A 72-year-old male, diagnosed with advanced lung adenocarcinoma in 2020 after showing symptoms of brain metastases, underwent successful surgical and CyberKnife treatments. Despite no actionable genetic targets and a high PD-L1 expression of 80%, his treatment with 3-cycles of Keytruda was cut short due to a psoriatic arthritis flare-up, though it initially decreased his CEA levels significantly. Over the following years, fluctuating CEA levels and various imaging studies indicated some concerning changes, such as potential radionecrosis or recurrence of cancer in the lung. His refusal of biopsy and a preference for avoiding invasive treatments led to only surveillance. Later, an MRI showed some metastasis, and the patient agreed to a lung biopsy, which showed poorly differentiated carcinoma of pulmonary origin. The patient only agreed to restart treatment with Keytruda 4-years later after his initial treatment with Keytruda, under close rheumatological care, and received only two doses. Afterward, the patient lost follow-ups. 3-months later, Repeated CT scans of the chest, abdomen, and pelvis showed no evidence of mass or pathological lymph nodes, and repeated CEA was 3.4.

Discussion

Managing advanced lung adenocarcinoma, especially with complications like brain metastases and psoriatic arthritis, is challenging. Pembrolizumab treatment showed promise by significantly reducing CEA levels despite early discontinuation due to autoimmune side effects, indicating effective tumor response in patients with high PD-L1 expression. The case underscores the need for balancing cancer treatment with autoimmune management and highlights the importance of patient preferences in treatment plans. Ongoing surveillance and genomic profiling remain crucial for guiding therapy.

Conclusions

This case of a 70-year-old male with advanced lung adenocarcinoma highlights the significant impact of immunotherapy, particularly PD-1/ PD-L1 inhibitors like pembrolizumab, in NSCLC. Despite a brief treatment period, the patient experienced extended disease control, demonstrating the potential of immunotherapy to enhance survival and its broad applicability in oncology.

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An Unusual Metastasis of Anal Squamous Cell Carcinoma

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Background

Anal squamous cell carcinoma is a rare cancer which usually has locoregional spread. We report a case of distant metastasis of primary anal squamous cell carcinoma to the posterior mediastinal lymph node without lung involvement.

Case Presentation

A 63-year-old female presented with a painful anal mass, bleeding, and fluid leakage for around six months. The patient was found to have a near-circumferential fungating anal mass with bilateral inguinal lymphadenopathy. MR imaging revealed an 8.7 x 5.9 cm anal mass extending beyond the mesorectal fascia, with lymphadenopathy involving inguinal, pelvic sidewall, and iliac regions. A biopsy of the mass confirmed anal squamous cell carcinoma (ASCC). Initial treatment included diverting colostomy followed by definitive chemoradiotherapy with Mitomycin and 5-Fluorouracil. Colonoscopy post-treatment revealed tubular adenomas and a hyperplastic polyp, with no malignancy detected. The patient demonstrated a strong therapeutic response, with resolution of the anal mass and improved symptoms. However, one year later, new FDG-avid mediastinal lymph node were detected on the CT/PET scan with no pulmonary involvement. Metastatic ASCC of the Mediastinal lymph node was confirmed by biopsy. Salvage chemotherapy with Carboplatin and Paclitaxel every three weeks for six cycles achieved complete resolution of metastases.

Conclusions

This case underscores the importance of a multidisciplinary approach in managing advanced ASCC and highlights the efficacy of salvage chemotherapy in addressing metastases. Close monitoring of disease progression following surgery and chemotherapy is crucial due to the risk of recurrence.

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Background

Anal squamous cell carcinoma is a rare cancer which usually has locoregional spread. We report a case of distant metastasis of primary anal squamous cell carcinoma to the posterior mediastinal lymph node without lung involvement.

Case Presentation

A 63-year-old female presented with a painful anal mass, bleeding, and fluid leakage for around six months. The patient was found to have a near-circumferential fungating anal mass with bilateral inguinal lymphadenopathy. MR imaging revealed an 8.7 x 5.9 cm anal mass extending beyond the mesorectal fascia, with lymphadenopathy involving inguinal, pelvic sidewall, and iliac regions. A biopsy of the mass confirmed anal squamous cell carcinoma (ASCC). Initial treatment included diverting colostomy followed by definitive chemoradiotherapy with Mitomycin and 5-Fluorouracil. Colonoscopy post-treatment revealed tubular adenomas and a hyperplastic polyp, with no malignancy detected. The patient demonstrated a strong therapeutic response, with resolution of the anal mass and improved symptoms. However, one year later, new FDG-avid mediastinal lymph node were detected on the CT/PET scan with no pulmonary involvement. Metastatic ASCC of the Mediastinal lymph node was confirmed by biopsy. Salvage chemotherapy with Carboplatin and Paclitaxel every three weeks for six cycles achieved complete resolution of metastases.

Conclusions

This case underscores the importance of a multidisciplinary approach in managing advanced ASCC and highlights the efficacy of salvage chemotherapy in addressing metastases. Close monitoring of disease progression following surgery and chemotherapy is crucial due to the risk of recurrence.

Background

Anal squamous cell carcinoma is a rare cancer which usually has locoregional spread. We report a case of distant metastasis of primary anal squamous cell carcinoma to the posterior mediastinal lymph node without lung involvement.

Case Presentation

A 63-year-old female presented with a painful anal mass, bleeding, and fluid leakage for around six months. The patient was found to have a near-circumferential fungating anal mass with bilateral inguinal lymphadenopathy. MR imaging revealed an 8.7 x 5.9 cm anal mass extending beyond the mesorectal fascia, with lymphadenopathy involving inguinal, pelvic sidewall, and iliac regions. A biopsy of the mass confirmed anal squamous cell carcinoma (ASCC). Initial treatment included diverting colostomy followed by definitive chemoradiotherapy with Mitomycin and 5-Fluorouracil. Colonoscopy post-treatment revealed tubular adenomas and a hyperplastic polyp, with no malignancy detected. The patient demonstrated a strong therapeutic response, with resolution of the anal mass and improved symptoms. However, one year later, new FDG-avid mediastinal lymph node were detected on the CT/PET scan with no pulmonary involvement. Metastatic ASCC of the Mediastinal lymph node was confirmed by biopsy. Salvage chemotherapy with Carboplatin and Paclitaxel every three weeks for six cycles achieved complete resolution of metastases.

Conclusions

This case underscores the importance of a multidisciplinary approach in managing advanced ASCC and highlights the efficacy of salvage chemotherapy in addressing metastases. Close monitoring of disease progression following surgery and chemotherapy is crucial due to the risk of recurrence.

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