Multidisciplinary management — including, but not limited to a team of plastic surgeons, otolaryngology-head&neck surgeons, dental surgeons, medical geneticists — is recommended. Contribution by radiology and pathology is essential for differential diagnosis. Additional direction by an psychiatrist, ophtalmologist and neurosurgeon may be needed according to symptoms manifested by the affected individual.
The long-term follow-up of the patients should be coordinated by a plastic surgeon with experience cranialfacial surgery.
Special attention should be given to:
- early detection of eating and dental problems
- eyesight
- severe anemia
- bleeding episodes
- signs of increased intracranial pressure
- body image dissatisfaction-related problems
Special attention should be given to management of bleeding episodes which can be massive and life-threatening. Patients have been managed by tooth extraction, mandibulectomy and removal of bone with vascular malformations. However, surgery in individuals must be planned with caution as bleeding through bony vascular malformations during surgery may be difficult to control. Endovascular embolization and percutanous sclerotherapy may be offered for treating acute bleeding episodes or as a precaution for surgery. Ventriculo-peritoneal shunts may be required and life-saving in individuals with increased intracranial pressure.
Unfortunately, currently there is no curative treatment available.
Genetic Counselling
VMOS has an autosomal recessive inheritance pattern. The heterozygous carriers of the disease that have been described till now appear completely free of disease. However, there is a 25% possibility of a child being homozygous, and thus being affected, born to parents who are both heterozygous.
Genetic testing for the first-degree relatives of affected individuals and carriers may be offered, especially in cases of relatives with consanguineous marriage who are planning for a child.
Prenatal diagnosis may also be provided if the family-specific pathogenic ELMO2 mutation is elucidated. However, prenatal diagnosis in VMOS poses a challenge as the disease may or may not cause serious health problems earlier in life.
Thus, genetic counselling is crucial and each couple should be managed on a case by case basis, considering the specific needs of the family.