2021, Number 4
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Rev Hematol Mex 2021; 22 (4)
Congenital protein C deficiency
Massache C, Figueroa A, Illescas P, Quiñonez E, Riera C
Language: Spanish
References: 10
Page: 213-217
PDF size: 234.52 Kb.
ABSTRACT
Background: Congenital protein C deficiency is a rare hematological disease that
leads a life threat to the newborn, the clinical presentation is variable, ranging from
asymptomatic to the presence of venous thromboembolism and its complications. Acute
diseases are life-threatening, such as purpura fulminans and disseminated intravascular
coagulation. The evolution can be rapid, symmetrical bilateral distal areas, if timely
treatment is not established, evolve to neurological, ophthalmological, pulmonary
involvement and limb amputation.
Clinical cases: A 31-day-old infant with chronic nutritional deficiency with a history
of prematurity, late sepsis, and thrombocytopenia that required multiple transfusions of
fresh freeze plasma, platelets before and after surgery for bilateral inguinal herniorrhaphy
complicated with postsurgical hemorrhage, a tension hematocele. Thrombophilic
profile showed protein C deficiency, patient had a favorable response to the treatment
and now he receives outpatient follow-up by the Hematology service.
Conclusions: Congenital protein C deficiency with or without thromboembolism
can affect neonates, involves a diagnostic challenge for the neonatologist and it is
necessary to know the care and bases of their treatment; patients must be referred for
management by a hematologist. The differential diagnosis must be present although its
deficiency is rare, since it is an important cause of thromboembolic events, in order to
prevent the sequelae that can cause a disability or even death.
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