ID: 40 yo female with no medical history presents for 1 week of fevers, malaise, and mild shortness of breath. She also notes a 1 year history of intermittent fevers, fatigue, chills, night sweats, weight loss, and LUQ abdominal fullness. On exam, she was noted to be febrile to 39.3 with diffuse lymphadenopathy and splenomegaly. She was found to be pancytopenic on presentation with WBC of 1.3, Hgb of 6.5, and Plt of 79. Further workup revealed a ferritin of 2,757, LDH of 617, and triglycerides of 251. Autoimmune labs were negative and a CT scan demonstrated splenomegaly with multiple enhancing lymph nodes throughout. A bone marrow biopsy demonstrated histiocytes comprising 50% of the bone marrow and the patient was diagnosed with hemophagocytic lymphohistiocytosis.
To meet the criteria for HLH, the patient must have the right clinical picture and 5 of the following:
fever > 38.5C
cytopenias (at least bicytopenia with Hgb < 9, Plt < 100, or ANC < 10000)
hemophagocytosis in bone marrow, spleen, lymph node, or liver
low or absent NK cell activity
ferritin > 500 ng/ML
elevated soluble CD25
Pearls from morning report:
To examine for splenomegaly, start palpation in RLQ as the spleen enlarges towards that direction.
The combination of pancytopenia and constitutional symptoms should lead to workup for infection (viral illness, miliary TB, fungal infections, endocarditis), HLH, hematologic malignancy, or autoimmune disease.
When ferritin levels are significantly elevated (in the high hundreds to thousands), causes that should come to mind include: Still’s Disease, HLH, disseminated histoplasmosis, hemochromatosis, and liver failure.
The workup of HLH is not complete after its diagnosis – you must evaluate for underlying precipitants/causes of HLH.
HLH was first described in 1939, but more fully understood in 1952 when two siblings in a family passed away from HLH (and another sibling 6 years later).
ID: 58 yo incarcerated man with HTN and history of smoking/IVDU presents with soft tissue masses on his back and legs starting 3 months ago. He started to feel low back pain at this time, along with significant fatigue. Other symptoms include weight loss over the past 8 months and intermittent fevers the past 3 weeks. Exam was notable for firm masses on his R back, R buttock, and L inner thigh as well as bilateral pitting edema. BMP on admission was notable for hyperkalemia, hyperphosphatemia, anion gap metabolic acidosis and renal failure; additional labs ordered showed a uric acid level of 13.6 mg/dL and LDH >5000 U/L. MRI Lumbar spine showed enlarged bilateral paraspinal muscles with possible underlying mass and hematomas. CT images showed revealed extensive metastatic involvement of skeletal muscles and thoracic/retroperitoneal lymph nodes. The patient underwent an ultrasound-guided biopsy of the back mass; pathology revealed malignant melanoma. He was also diagnosed with tumor lysis syndrome (prior to any chemotherapy administration) and was started on IV fluids, allopurinol, and rasburicase.
Pearls from morning report:
Allopurinol alone is insufficient to treat hyperuricemia since its action is in decreasing uric acid formation – use rasburicase for preexisting hyperuricemia.
ID: 58 yo homeless male with alcohol abuse and seizure disorder presents with 2 days of L knee pain and swelling. He reports a history of frequent falls (while intoxicated) and increased joint swelling after these falls over the past 4-5 months. Exam was notable for diffuse L knee swelling, full ROM, stable varus/valgus maneuvers, negative posterior drawer test with improvement in pain with passive motion. Joint fluid analysis demonstrated markedly bloody red fluid with 1,333 nucleated cells, 25% neutrophils, 40% lymphocytes, 29% monocytes, and 6% eosinophils. Labs were notable for Hgb of 8.8, Plts of 384, and PTT of 84 secs which did not correct on mixing study – subsequent workup with a Factor VIII inhibitor assay was remarkable at 760 Bethesda Units. Patient was ultimately found to have a renal cell carcinoma (RCC) and diagnosed with hemarthrosis likely secondary to acquired Factor VIII inhibitor from his underlying RCC.