From the Guidelines
The patient should continue management of his underlying glycogen storage disease with his metabolic specialist, including adherence to dietary recommendations and any prescribed medications, while further evaluation is needed to determine the cause of the abdominal pain. The abdominal ultrasound findings in this 43-year-old male with glycogen storage disease and lower abdominal pain show mild fatty liver changes with sparing in the left lobe, along with a small hepatic cyst in the left lobe. These findings appear stable or slightly improved compared to previous imaging from 2018. For management, I recommend continued monitoring of these hepatic findings with follow-up ultrasound in 6-12 months, as both findings are likely incidental and not the cause of the current abdominal pain. The patient's condition is consistent with the clinical manifestations of glycogen storage disease type III, as described in the guidelines for diagnosis and management 1. Patients with glycogen storage disease often develop hepatic abnormalities including fatty liver and benign lesions due to the abnormal glycogen accumulation and metabolic disturbances, but these typically require monitoring rather than specific intervention unless complications develop. Further evaluation is needed to determine the cause of the abdominal pain, including comprehensive abdominal examination, laboratory tests including liver function tests, amylase/lipase, and possibly additional imaging such as CT scan if symptoms persist. It is also important to consider the differential diagnosis of glycogen storage disease type III, as outlined in the guidelines 1, to ensure that the patient's condition is accurately diagnosed and managed. Overall, the patient's management should prioritize the control of his underlying glycogen storage disease, while also investigating the cause of his abdominal pain.
From the Research
Patient Presentation
The patient is a 43-year-old male with glycogen storage disease presenting with lower abdominal pain.
Abdominal Ultrasound Findings
The abdominal ultrasound shows:
- Mild fatty infiltration of the liver versus hepatocellular dysfunction with fatty sparing in the left lobe
- Small hepatic cystic lesion in the left lobe, which is nonspecific These findings are similar to or slightly smaller than the previous ultrasound on October 1,2018.
Relevance of Ultrasound Findings
According to 2, abdominal ultrasound is an extremely useful test for evaluating patients with right upper quadrant pain or abnormal liver function tests. However, the patient's pain is in the lower abdomen, which may not be directly related to the liver findings.
Potential Causes of Abdominal Pain
The patient's symptoms and ultrasound findings may be related to various causes, including liver disease, as discussed in 3. However, the patient's glycogen storage disease and lower abdominal pain may also suggest other potential causes, such as gastrointestinal or musculoskeletal issues.
Diagnostic Approach
The diagnostic approach for acute abdominal pain, as outlined in 4, involves considering the location of pain, history, and examination findings, as well as recommended tests such as complete blood count, C-reactive protein, hepatobiliary markers, and imaging studies. In this case, the patient's ultrasound findings and laboratory tests may help guide further evaluation and management.
Laboratory Tests
As discussed in 5, laboratory tests can be useful in narrowing the differential diagnosis for abdominal pain. However, the specific tests ordered should be guided by the patient's history, examination, and ultrasound findings.
Next Steps
Based on the patient's presentation and ultrasound findings, further evaluation and management may involve:
- Monitoring the patient's liver function and ultrasound findings
- Considering other potential causes of lower abdominal pain
- Ordering additional laboratory tests or imaging studies as needed to guide further evaluation and management.