2.2 Methods(Differential,diagnosis,investigation and treatment)
In accordance with the results of blood routine tests, liver and kidney function tests, as well as coagulation function tests, the patient’s red blood cell count was 2.73 x 10^12/L, and the hematocrit was 27.2%, significantly lower than the normal range. Furthermore, the triglyceride level was 10.44, higher than the normal range. The erythrocyte sedimentation rate (ESR) was measured at 100 mm/h. Preliminary considerations suggest the presence of anemia and hyperlipidemia, as indicated in Table 1.
To refine the diagnostic findings, the patient underwent gastrointestinal endoscopy, tumor marker examination, thyroid examination, and abdominal MRI. The MRI revealed: 1. Right renal cyst; 2. Abnormal signals in the scanned field of bone, considering the clinical context, suggestive of manifestations related to anemia. Gastrointestinal endoscopy revealed chronic atrophic gastritis, with no specific findings in the rectum and colon. Thyroid ultrasound and functional tests showed no abnormalities. Infection screening also showed no abnormalities. β2-microglobulin was elevated at 9.3 mg/L. Considering the relevant examinations, the patient’s bone abnormalities were consistent with manifestations of anemia, accompanied by an elevated level of β2-microglobulin.
Further perfection through coagulation factor examination, immune-related investigations, anemia assessment, and protein electrophoresis revealed a decrease in factor VIII levels and coagulation factor deficiency (Table 2). Immunoglobulin A was elevated at 44.52 g/L, complement C was decreased at 30.42 g/L, and erythrocyte sedimentation rate was elevated at 100.0 mm/h. Serum protein electrophoresis showed M protein at 1.22.3g/L, and serum immunofixation electrophoresis indicated IgA κ type (Figure 1, Table 3, 4).
To further enhance the diagnostic workup, bone marrow morphology, bone marrow flow cytometry immunophenotyping, bone marrow biopsy, and bone marrow chromosomal karyotype analysis were performed. Additionally, MRI scans of the cervical, thoracic, and lumbar spine, whole-body skeletal digital radiography (DR), and cardiac ultrasound to rule out amyloidosis were conducted. Following the comprehensive examinations, the findings indicated that the MRI of the cervical, thoracic, and lumbar spine suggested T12 fat deposition, with general signal enhancement in the vertebral bodies, indicating a hematological system disorder. Meanwhile, exon testing revealed a mutation in exon 4 of TP53 (Fig. 2A). Bone marrow smears showed mature red blood cells arranged in a coin-like pattern (Fig. 2B), with a concurrent presence of 5.5% myeloma cells. Additionally, bone marrow flow cytometry detected abnormal plasma cells (Fig. 2D), and monoclonal cell proliferation (approximately 60%) (Fig. 2C), suggesting Plasma Cell Myeloma (PCM, KAP type).