Is there a relationship between thrombophilia and hemangioma in a 10-month-old infant with a hemangioma on the right hand, whose hand turns purple in cold temperatures despite treatment with topical Timolol (timolol maleate), and has a biological father with a Factor V Leiden mutation?

From the Guidelines

I strongly recommend consulting a pediatric hematologist promptly for your 10-month-old with a hemangioma and cold-induced purple discoloration, especially given the family history of Factor V Leiden mutation. While there's no established direct relationship between hemangiomas and thrombophilia, the combination of symptoms warrants evaluation. The purple discoloration despite timolol treatment suggests possible vascular or circulatory issues that should be investigated. According to the most recent guidelines, such as those outlined in the study by Bardo et al 1, early evaluation and management of infantile hemangiomas are crucial, especially in cases with potential complications or associated conditions. A pediatric hematologist can perform appropriate testing for Factor V Leiden and other thrombophilias, assess clotting risk, and determine if anticoagulation or other treatments are needed. They may work with a pediatric dermatologist to optimize hemangioma management. Factor V Leiden increases blood clotting risk, and while hemangiomas are typically benign vascular growths unrelated to clotting disorders, the combination could potentially affect blood flow or healing in the affected area.

Key considerations in the management of this patient include:

• The presence of a family history of Factor V Leiden mutation, which increases the risk of thrombophilia 1
• The patient's symptoms, including cold-induced purple discoloration, which may indicate vascular or circulatory issues 1
• The importance of early evaluation and management of infantile hemangiomas, as outlined in recent guidelines 1
• The potential need for collaboration between pediatric hematologists and dermatologists to optimize patient care 1

Given the potential implications of thrombophilia on future medical care, including surgery, medication choices, and prevention of clotting complications, prompt consultation with a pediatric hematologist is essential. This will ensure that the patient receives appropriate evaluation, management, and follow-up care to minimize potential complications and optimize outcomes.

From the Research

Relation to Thrombophilia and Hemangioma

• There is no direct evidence in the provided studies to suggest a relation between thrombophilia and hemangioma 2, 3, 4, 5.
• However, the presence of a factor V Leiden mutation in the biological father may indicate a potential thrombophilic condition, which could be relevant in the context of the baby's health 3, 4, 5.

Management and Referral to a Pediatric Hematologist

• The baby's condition, including the hemangioma and the family history of factor V Leiden mutation, may warrant referral to a pediatric hematologist for further evaluation and management 3, 4, 5.
• The pediatric hematologist can assess the baby's risk of thrombophilia and provide guidance on management and treatment, if necessary 3, 4, 5.
• The use of topical timolol for the hemangioma may need to be monitored and adjusted in consultation with a pediatric hematologist, especially if the baby is at risk of thrombophilia 2.

Timing of Referral

• Given the baby's age and the presence of a hemangioma, as well as the family history of factor V Leiden mutation, referral to a pediatric hematologist may be considered sooner rather than later 3, 4, 5.
• The pediatrician or primary care physician can assess the baby's overall health and development, and refer to a pediatric hematologist if there are any concerns or indications of thrombophilia or other hematologic conditions 3, 4, 5.