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Unusual thrombotic-like retinopathy (Coats' disease) associated with congenital plasminogen deficiency type I
G M Patrassi1, M T Sartori, S Piermarocchi
1Medical Semeiotics Fourth Chair of Internal Medicine, University of Padova Medical School, Italy.
Insights
This study describes a family with plasminogen deficiency, linking this fibrinolytic defect to Coats' disease in one member. The findings suggest plasminogen deficiency as a potential risk factor for thrombosis.
Area of Science:
- Ophthalmology
- Hematology
- Genetics
Background:
- Heterozygous plasminogen deficiency type I is a rare genetic disorder affecting fibrinolysis.
- Coats' disease is an idiopathic retinal vascular anomaly.
- The genetic basis and thrombotic risks associated with plasminogen deficiency are not fully understood.
Observation:
- A 17-year-old male with heterozygous plasminogen deficiency presented with a retinal picture resembling Coats' disease.
- Five family members exhibited reduced plasminogen activity and antigen levels (approx. 50% of normal).
- Recurrent lower limb phlebitis was noted in two affected individuals.
Findings:
- This is the first reported case associating hypoplasminogenaemia with Coats' disease.
- The fibrinolytic defect may play a role in the pathogenesis of this retinopathy.
- Thrombotic events in affected family members support plasminogen deficiency as a thrombosis risk factor.
Implications:
- Highlights a potential link between fibrinolytic dysfunction and retinal vascular diseases.
- Underscores the importance of considering plasminogen deficiency in patients with unexplained thrombosis.
- Suggests genetic screening for plasminogen deficiency in families with thrombotic or retinal vascular issues.
Abstract:
A new kindred with heterozygous plasminogen deficiency type I is described. The proband, a 17-year-old male, showed a peculiar thrombotic-like retinal picture compatible with Coats' disease. Extensive coagulation studies revealed decreased levels of both plasminogen activity and antigen to about 50% of normal values. Five out of 13 family members from the paternal side showed the same fibrinolytic defect. In two cases, a history of recurrent phlebites of the lower limbs was present. One unaffected patient also had a superficial phlebites at a young age; her plasminogen levels were shown to be within normal limits, but a long-standing oestroprogestinic intake could have influenced and normalized the results. No other family member showed retinal abnormality. This is the first case of hypoplasminogenaemia associated with Coats' disease. A possible role of the fibrinolytic defect in the pathogenesis of this unusual retinopathy is suggested. Finally, the occurrence of thrombotic manifestations in other affected family members supports the opinion that plasminogen deficiency should be considered as a potential risk factor for thrombosis.