Light chain (AL) amyloidosis is a plasma cell-derived protein misfolding disorder in which structurally unstable monoclonal light chains aggregate into amyloid fibrils and deposit in target organs. Beyond simple disease burden, emerging evidence indicates that intrinsic light chain sequence and clonal properties actively shape organ tropism and clinical phenotypes. Hepatic involvement represents a distinctive but under-recognized manifestation, characterized by marked hepatomegaly and disproportionate alkaline phosphatase elevation, often preceding overt hepatocellular dysfunction. While usually occurring within multiorgan disease, hepatic-predominant presentations show enrichment of kappa-restricted clones, suggesting selective deposition driven by light chain biophysical features. Advances in plasma cell-directed therapies have transformed survival; however, delayed hepatic recovery despite rapid hematologic remission highlights dissociation between clonal suppression and amyloid clearance. Understanding how clonal biology governs organ-specific deposition and response kinetics may enable improved risk stratification and the development of mechanism-based strategies to accelerate organ recovery and optimize long-term outcomes.

Infantile hepatic hemangiomatosis (IHH) is a rare benign vascular tumor of infancy, defined by multiple angiomatous lesions diffusely replacing the hepatic parenchyma. Its clinical course can be severe due to systemic complications, particularly consumptive hypothyroidism and high-output heart failure. We report the case of a four-month-old female infant admitted for abdominal distension evolving over two weeks. Physical examination revealed massive hepatomegaly (hepatic span of 14 cm) with abdominal-thoracic collateral venous circulation and no cutaneous hemangiomas. Laboratory workup showed normochromic normocytic non-regenerative anemia (hemoglobin = 6.7 g/dL), hepatic cytolysis (aspartate aminotransferase = 3× normal), cholestasis (alkaline phosphatase = 188 IU/L, gamma-glutamyl transferase = 335 IU/L), and a prothrombin time reduced to 54%. Alpha-fetoprotein was 470 ng/L. Abdominal MRI revealed multiple rounded hepatic lesions, T1 hypointense and T2 hyperintense with diffusion restriction and progressive centripetal contrast enhancement, consistent with diffuse IHH. Cardiac (echocardiography) and cerebral (transfontanellar ultrasound) assessments were normal. Systematic thyroid function tests revealed severe consumptive hypothyroidism, with thyroid-stimulating hormone level of 500 µIU/mL and free T4 of 6 pmol/L, without antithyroid antibodies. Management included progressive propranolol (Hemangiol®) up to 3 mg/kg/day, levothyroxine at 20 µg/kg/day, and red blood cell transfusion. At the six-month follow-up, thyroid function had normalized, and hepatic lesions showed significant regression. This case highlights the necessity of systematic thyroid function screening in all infants with IHH and illustrates the efficacy of propranolol in managing this rare but potentially life-threatening condition.

Common variable immunodeficiency (CVID) is associated with diverse clinical manifestations. This systematic review aimed to explore associations between disease factors and clinical outcomes in patients with CVID. Eligible studies included patients with CVID and reported associations between disease factors and clinical outcomes (e.g., autoimmune cytopenia, bronchiectasis, infections, lung damage, malignancy, and mortality). Quality assessment was conducted using the Newcastle-Ottawa Scale. Thirty-nine studies met inclusion criteria. The occurrence of lymphadenopathy or splenomegaly was associated with an increased risk of autoimmune cytopenia and lung damage specific to granulomatous-lymphocytic interstitial lung disease; splenomegaly was associated with increased risk of bronchiectasis. Higher levels of switched memory B (smB) cells and marginal zone B cells were associated with reduced risks of lung damage; higher levels of smB cells were associated with a reduced risk of autoimmune cytopenia. Elevated CD21[low] B cells were associated with increased risks of autoimmune cytopenia, lung damage, and infections. Higher total B cells were associated with lower risk of bronchiectasis and mortality. These findings suggest specific relationships are present between lymphoproliferation markers and B-cell subsets and clinical outcomes in CVID. Limitations including heterogeneity in study designs and low- to moderate-quality evidence underscore the need for additional research to validate these associations.

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome driven by uncontrolled immune activation, most commonly associated with hematologic malignancies. Its occurrence as the presenting manifestation of a solid tumor is rare and frequently underrecognized due to significant clinical overlap with severe infectious syndromes. We report the case of a 38-year-old male with no prior medical history who presented with persistent fever, severe lower back pain, and night sweats. These nonspecific constitutional symptoms, including fever, weight loss, and night sweats, initially raised suspicion for an infectious or inflammatory etiology. Laboratory evaluation revealed severe anemia, thrombocytopenia, marked hyperferritinemia, elevated lactate dehydrogenase, hepatic cytolysis, and hypertriglyceridemia. Peripheral blood smear demonstrated a leukoerythroblastic pattern with schistocytes and circulating erythroblasts, suggestive of bone marrow infiltration. An HScore indicated an 80-88% probability of HLH, supporting a high likelihood of reactive HLH in the adult setting. Extensive infectious workup was negative, including blood and urine cultures, which remained sterile throughout hospitalization. Imaging identified a left supraclavicular lymph node conglomerate consistent with Virchow's node and diffuse bone marrow infiltration throughout the spine, with anterior epidural extension at the D6 level. Initial computed tomography of the chest, abdomen, and pelvis did not reveal a clear primary intra-abdominal lesion but demonstrated hepatomegaly and lymphadenopathy, prompting further investigation. Upper gastrointestinal endoscopy revealed multiple large gastric ulcers, and histopathological analysis confirmed diffuse gastric adenocarcinoma with signet ring cell features. The tumor demonstrated proficient mismatch repair (pMMR), PD-L1 combined positive score (CPS) 5, HER2-negative status, and claudin 18 (CLDN18) positivity. A bone marrow biopsy was non-diagnostic due to extensive necrosis but showed immunohistochemical evidence suggestive of metastatic epithelial infiltration. Immunomodulatory therapy with anakinra was initiated; however, persistent severe thrombocytopenia precluded systemic oncologic therapy. The patient died 28 days after admission from multiorgan failure, highlighting the fulminant course and high mortality associated with malignancy-triggered HLH. This case highlights the importance of early consideration of malignancy in unexplained HLH and illustrates how hematologic compromise may preclude disease-modifying treatment.

Cytomegalovirus (CMV) infections are common worldwide, with clinical manifestations varying from asymptomatic infections in healthy people to life-threatening end-organ dysfunction in immunocompromised patients. Acute CMV infection has been associated with venous thrombosis in immunocompetent patients. We present a rare case of acute superior mesenteric vein (SMV) and portal vein thrombosis in an immunocompetent patient with acute CMV infection. A 28-year-old patient with a past medical history of obesity presented with two days of sharp, 9/10 left upper quadrant (LUQ) pain that radiated to the back, associated with subjective fevers, nausea, and loose stools. The patient was tachycardic, febrile, and tachypneic. Physical examination revealed LUQ tenderness to superficial and deep palpation. Laboratory findings showed leukocytosis with lymphocytic predominance as well as transaminemia. CT of the abdomen/pelvis revealed SMV and portal vein thrombosis, hepatomegaly, and splenomegaly with multiple splenic infarcts. The thrombophilia workup was negative. CMV testing showed positive IgM. CMV polymerase chain reaction was elevated at 1,222 log IU/mL. He was started on ganciclovir and improved clinically. He was discharged on oral ganciclovir and warfarin. This case report emphasizes that, in an immunocompetent patient presenting with acute deep vein thrombosis at unusual sites, a negative thrombophilia workup, and after excluding other risk factors, CMV infection as a triggering etiological factor should be considered.

A previously asymptomatic male infant presented with persistent fever for 4 weeks with progressive abdominal distension due to hepatosplenomegaly. Investigations were suggestive of bicytopenia. His fever was non-responsive to intravenous antibiotics. Blood and urine cultures were sterile. Bone marrow showed normal haematopoiesis with evidence of yeast forms of Histoplasma capsulatum inside erythroblasts. Urine was positive for histoplasma antigen. The infant responded to intravenous liposomal amphotericin B. Fever resolved, anaemia and thrombocytopenia recovered. Hence, we report this case of an infant with disseminated histoplasmosis presenting with fever, hepatosplenomegaly and bicytopenia.

Kaposi sarcoma (KS) is a human herpesvirus 8 (HHV-8)-associated vascular neoplasm that most commonly affects immunocompromised individuals. Endemic KS occurs in sub-Saharan Africa but rarely involves the anogenital region in pediatric patients. We report a case of a 12-year-old immunocompetent Ghanaian girl presenting with rapidly progressive nodular and fungating masses involving the trunk and external genitalia. Initial biopsies were reported as squamous papilloma; subsequent histopathologic evaluation with immunohistochemistry confirmed nodular-type KS. The patient demonstrated aggressive disease progression with lymphadenopathy and hepatomegaly, and access to systemic chemotherapy was limited because of financial constraints. Treatment with topical adapalene resulted in rapid resolution of smaller cutaneous lesions. This case highlights diagnostic challenges in resource-limited settings and supports the potential role of topical retinoids as a low-cost palliative therapy for cutaneous KS.

Sickle cell disease (SCD) is an inherited hemoglobinopathy caused by a point mutation in the β-globin gene, resulting in hemoglobin S polymerization under hypoxic conditions. This process leads to erythrocyte dehydration, impaired deformability, hemolysis, and recurrent vaso-occlusion, which may culminate in acute painful crises and progressive organ damage. Hepatic involvement is a recognized but underreported complication of SCD and can range from mild biochemical abnormalities to life-threatening hepatic vaso-occlusive crisis (VOC). This case report presents a 25-year-old woman, with homozygous sickle cell anemia who developed a rapidly progressive hepatic VOC following a mild respiratory illness. Her clinical course was marked by acute abdominal pain, severe transaminitis, cholestasis, escalating transfusion requirements, and radiologic evidence of hepatomegaly. Clinical and biochemical improvement was observed following a multimodal management approach that included supportive care, corticosteroids, blood transfusion, and the addition of intravenous metronidazole. This case highlights hepatic VOC as a serious manifestation of SCD and explores the potential role of metronidazole as an adjunctive therapy, given its immunomodulatory and anti-inflammatory properties. Further investigation is warranted to clarify its therapeutic role in sickle cell-related vaso-occlusive complications.

Hepatic amyloid light-chain (AL) amyloidosis is characterized by amyloid protein deposition in the liver, requiring biopsy for diagnosis. We report a 71-year-old man with lymphoplasmacytic lymphoma/Waldenström macroglobulinemia presenting with hepatomegaly and elevated enzymes. Imaging revealed no masses. The patient was diagnosed with hepatic AL amyloidosis through repeat endoscopic ultrasound-guided liver biopsy (EUS-LB), following an initial inconclusive result. A postprocedural hepatic hematoma resolved within 2 months. To the best of our knowledge, cases of hepatic AL amyloidosis diagnosed through EUS-LB are scarce. This case illustrates the diagnostic utility of EUS-LB in hepatic AL amyloidosis and highlights the need for careful interpretation of postprocedural findings.