General management of Alpha-Mannosidosis

In general, the approach to the patients is proactive, with the aim of preventing emerging complications. After a full physical examination, physicians should focus on the known complications of Alpha-Mannosidosis, such as hydrocephalus, otitis media, hearing loss, dental caries, joint symptoms, kyphoscoliosis, and mental state.¹

A multidisciplinary care team is key to patient care. This typically includes an ophthalmologist, an otolaryngologist, an audiologist and a neurophysiologist.² Clinical evaluations include blood tests and radiological evaluations, with radiographs of the head, spine, knees or other areas of the skeleton displaying symptoms.¹

Early diagnosis with measurement of head circumference, diagnosis with ultrasound, skull radiographs or computed tomography (CT).

Management of Otitis Media¹
Diagnosis is simple, and insertion of pressure-equalizing tubes reduces the potential impact of reduced hearing. Hearing aids are often deployed and are used as an adjunct to speech therapy.

Dentition¹
Dental caries can be frequent in these patients because of reduced dental quality combined with tooth grinding or acid reflux from the stomach. Regular dental support and good dental hygiene is essential.

Joint status¹
Joint pathology is monitored throughout the course of the disease. A number of orthopedic surgical procedures may be needed throughout the patient’s lifetime.

Mental state¹
Mental state can be monitored with various tests, such as the Wechsler test. Non verbal tests can be deployed to compensate for the hearing deficit.

Prevention of secondary complications is also a vital part of management of Alpha-Mannosidosis. In this regard, prophylactic vaccinations because of immunodeficiency can be recommended.³

Medical history should be taken once or twice yearly, and include the number and type of infections, hearing, weight loss, headache, fatigue, irritability, depression, change in social, domestic, school/work-related activities, walking distance; diarrhea, abdominal pain, muscle pain, joint aches or reduced range of movement, and bone pain.³

With the same frequency, physical examination including otoscopy, ophthalmoscopy, assessment of liver and spleen size, heart and lungs, joint range of motion, gait, neurologic status, and orthopedic evaluation is advocated.³
Growth should also be monitored giving attention to head circumference.

Audiometric and ophthalmologic examination are needed to detect corneal opacities, myopia, hyperopia and strabismus. Neuropsychological testing can determine the functional level. Lastly, full blood work-up and skeletal assessment with plain radiographs (head, knees, spine and symptomatic sites) are recommended, along with bone densitometry (every 2-5 years to assess osteopenia) and CT of the brain (to evaluate size of ventricles and shape and size of cerebellum if signs and symptoms of hydrocephalus are present).³

Thus, medical management of patients with Alpha-Mannosidosis is complex and invariably involves a wide range of experts.