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).