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Pseudoxanthoma elasticum diagnosed 25 years after the onset of cardiovascular disease
Y Araki1, T Yokoyama, N Sagawa
1Second Department of Internal Medicine, Gunma University School of Medicine, Maebashi.
Insights
This case highlights pseudoxanthoma elasticum (PXE), a rare genetic disorder, diagnosed 25 years after initial cardiovascular symptoms. Angioid streaks in the eye led to the diagnosis of PXE in a patient with severe cardiovascular disease.
Area of Science:
- Ophthalmology
- Cardiology
- Dermatology
- Genetics
Background:
- The patient presented with a history of early-onset cerebral and myocardial infarctions, necessitating multiple coronary angioplasties.
- Coronary angiography revealed extensive multi-vessel disease and significant stenosis in bypass grafts, indicating severe, advanced cardiovascular pathology.
Observation:
- Funduscopic examination, performed to assess hypertensive and diabetic changes, revealed the presence of angioid streaks.
- Despite the absence of typical skin manifestations, a skin biopsy was conducted for further investigation.
Findings:
- Histopathologic analysis of the skin biopsy demonstrated characteristic calcification and fragmentation of elastic fibers.
- These findings confirmed the diagnosis of pseudoxanthoma elasticum (PXE).
Implications:
- This case underscores the importance of considering PXE in patients with unexplained, severe cardiovascular disease and ocular findings like angioid streaks.
- The delayed diagnosis of PXE, occurring 25 years after the initial cardiovascular presentation, highlights the potential for a long diagnostic odyssey.
- Early recognition of PXE may allow for proactive management of associated cardiovascular and ophthalmologic complications.
Abstract:
A 63-year-old man who had experienced cerebral infarction and myocardial infarction at an early age, and repeatedly underwent coronary angioplasty was admitted to our hospital for cardiac evaluation. A coronary angiography showed complex multi-vessel disease with significant stenosis in all major vessels and coronary-artery bypass grafts. A funduscopic examination to evaluate hypertensive and diabetic changes revealed angioid streaks. Therefore, a skin biopsy was performed despite the absence of characteristic skin lesions. Histopathologic examinations revealed calcification and fragmentation of elastic fibers. Therefore, he was finally diagnosed as having pseudoxanthoma elasticum 25 years after the onset of cardiovascular disease.