Nodular pulmonary amyloidosis is rare, but a number of individual cases have been reported in the literature. Radiologically, pulmonary amyloid nodules often mimic cancer and hence require biopsy to obtain a specimen for definitive diagnosis. We describe a case of isolated nodular pulmonary amyloidosis with an unusual amyloid composition that given the patient's clinical history has not been described in the literature to the best of our knowledge, making this case unique. A 58-year-old woman with a history of mixed connective tissue disease was found to have multiple lung nodules on chest computed tomography (CT) that were radiologically suspicious for cancer. A CT-guided percutaneous fine-needle aspiration (FNA) biopsy of one of the nodules was performed. A diagnosis of amyloid was rendered using special stains and polarized light microscopic examination. Immunohistochemical stains revealed that the amyloid comprised beta-2 microglobulin as well as both kappa and lambda light chains. Further work up showed no evidence of systemic amyloidosis. We were successful in rendering an accurate diagnosis of a pulmonary amyloidoma on material procured by CT-guided FNA thus avoiding more invasive procedures. In addition, immunohistochemical staining revealed an unexpected and highly unusual protein composition of the amyloid.
A 10-year-old white boy presented clinically with thalassemia major facies, pallor, jaundice, and hepatomegaly. Investigation revealed the patient has hemoglobin (Hb) Lufkin concurrent with beta(0) thalassemia. DNA sequencing of the beta globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also revealed a beta(0) thalassemia mutation, IVS-1-1 (G to A), on both the patient and his mother. Both parents lack the Hb Lufkin mutation. Molecular studies, human leukocyte antigen, and red blood cells phenotypic studies indicate spontaneous mutation of Hb Lufkin in this patient.
Amyloidosis is a disease of insoluble protein deposition. It can affect many organ systems but less commonly found in the lung. Pleural effusions secondary to amyloidosis are rare and sparsely reported in the literature. The incidence ranges from 9 to 14 per million person-years. We present a case report of a 77-yearold female with respiratory distress and recurrent bilateral pleural effusions and known intra-abdominal amyloidosis. Initially, we attempted conservative non-operative management using tube thoracostomy drainage with lytic medications. But ultimately, she required decortication with the hope of promoting symphysis of her lung and chest wall to prevent recurrent effusions. Further investigation is warranted in this disease process, as the exact mechanism remains elusive. The same holds true regarding a standardized treatment approach due to the rarity of the disease.
Hemoglobin Lufkin is a rare and mildly unstable hemoglobin variant with increased oxygen affinity. Since 1977, two cases of hemoglobin Lufkin trait and one hemoglobin Lufkin/hemoglobin S have been described. This report is the first case of hemoglobin Lufkin/beta-zero thalassemia in a 10 year-old Caucasian male of Irish/Italian/German background. The patient presented with jaundice, splenomegaly and thalassemia major facies. On blood smear examination, RBC morphology showed hypochromia, microcytosis, many target cells, some spherocytes and basophilic stippling of RBC’s. On both alkaline hemoglobin (Hb) electrophoresis and isoelectric focusing (IEF) there was an absence of Hb A with a predominant band slightly anodal to the Hb A position. Hb A2 (4.8%)and Hb F (5.3%) were elevated as measured by high performance liquid chromatography. The heat unstable Hb test was abnormal. DNA sequencing of the beta globin gene confirmed a GCC to GAC mutation at codon 29 (gly to asp) consistent with Hb Lufkin. DNA sequence analysis also revealed a beta-zero thalassemia mutation, IVS-1-1, (G to A). The mother’s sample also showed the same beta-thalassemia mutation. Neither hemoglobin Lufkin nor beta-thalassemia were identified in the father; further studies are being done.
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