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[Grönblad-Strandberg syndrome from the angiological viewpoint]
C Rühlmann1, I Wittig, A Lochner
1Medizinische Klinik und Poliklinik I, Universität Leipzig.
Insights
This case study highlights pseudoxanthoma elasticum (PXE), a rare connective tissue disease. Early diagnosis and treatment of vascular complications in PXE patients are crucial for improved outcomes.
Area of Science:
- Vascular Medicine
- Dermatology
- Genetics
Background:
- Pseudoxanthoma elasticum (PXE), also known as Grönblad-Strandberg syndrome, is a rare inherited disorder affecting connective tissue.
- It is characterized by the progressive calcification and fragmentation of elastic fibers in the skin, eyes, and cardiovascular system.
Observation:
- A 42-year-old man presented with severe peripheral vascular disease, skin changes (peau d'orange, loss of elasticity, yellowish papules), and visual impairment.
- Clinical findings included bilateral femoral artery occlusions, pelvic axis stenosis, diffuse kidney calcifications, angioid streaks, and characteristic skin biopsy findings of fragmented elastic fibers.
Findings:
- Diagnostic investigations confirmed PXE, revealing significant arterial occlusive disease and systemic involvement.
- A thrombendarterectomy of the left superficial femoral artery resulted in improved leg perfusion and clinical amelioration.
Implications:
- Cardiovascular complications, particularly peripheral arterial disease, are a significant concern in PXE patients.
- Long-term angiological monitoring and timely intervention are essential for managing vascular manifestations of PXE.
History And Clinical Findings:
A 42-year-old man was admitted for treatment of peripheral vascular disease in the left leg (stage III of Fontaine). A year before he had undergone a right aortofemoral bypass operation. On admission there was stenosis of the left pelvic axis and bilateral femoral artery occlusion. In addition there were changes in the skin with abnormal folds, loss of elasticity and yellowish spots over the sides of the neck and the flexor surfaces of all large joints. In addition vision in the left eye was impaired. These findings suggested connective tissue disease involving the skin, eye and arterial system.
Investigations:
Routine haematological tests were normal as were clotting parameters. Serum concentration of GOT, GPT, gamma-GT were slightly increased. There was a dysproteinaemia with raised HDL and LDL levels. Resting electrocardiogram was normal, showing sinus rhythm and left axis deviation. The crurobrachial pressure index was clearly abnormal: 0.6 on the right and 0.5 on the left. Angiography of the pelvic and left arteries revealed long-segment femoral and partial lower-leg occlusions bilaterally. Abdominal sonography indicated diffuse parenchymal calcifications in both kidneys and angioid streaks on bilateral fundoscopy. Skin biopsy showed defects of elastic fibres and perivascular inflammatory infiltration, while capillary microscopy revealed twisting of the capillaries, most of them with normal lumen. These findings taken together indicated pseudoxanthoma elasticum (PXE) or Grönblad-Strandberg syndrome.
Treatment And Course:
A thrombendarterectomy was performed on the left superficial femoral artery, after which the left popliteal artery became palpable, the pressure indices for the left leg were slightly better, and the patient was discharged home without further complications and improved leg perfusion.
Conclusion:
Possible cardiovascular involvement had to be taken into account in patients with PXE, and long-term angiological monitoring is indicated.