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Wolfram syndrome is an inherited disorder that is associated typically with childhood-onset, insulin-dependent diabetes mellitus as well as progressive optic atrophy. Moreover, many individuals with Wolfram syndrome also end up developing diabetes insipidus and sensorineural hearing loss.
The syndrome is also known as DIDMOAD, which is an abbreviation for diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Most cases of Wolfram syndrome can be attributed to mutations in the WFS-1 gene.
Signs And Symptoms Of Wolfram Syndrome
The symptoms and progression rate of Wolfram syndrome can be extremely variable. The primary symptoms of the condition (diabetes insipidus, diabetes mellitus, optic atrophy, and loss of hearing) can surface at different ages.
Most individuals who are affected by Wolfram syndrome eventually develop insulin-dependent diabetes mellitus before reaching the age of 16 (which accounts for 87% of the overall cases).
When it comes to diabetes mellitus that is caused by the Wolfram gene, the affected individual needs daily shots of insulin to successfully control blood sugar levels. Symptoms of diabetes may include excessive thirst, frequent urination, increase in appetite, blurry vision, and weight loss.
Moreover, it is often thought that nearly all individuals affected by this disorder have primary optic atrophy (OA) and subsequent impairment of vision of differing severity before the age of 16 (which accounts for 80% of the total cases).
Some individuals who develop this syndrome also develop diabetes insipidus (42% of cases), which has got nothing to do with diabetes or insulin. The only thing in common is the symptoms of frequent urination and excessive thirst. This condition causes the excretion of enormous quantities of urine (watery appearance) and excessive thirst because the brain does not produce sufficient amounts of a hormone called vasopressin.
Loss of hearing is the fourth acute symptom of Wolfram syndrome and occurs in nearly 48% of patients. This symptom may manifest at any age and could be partial or complete. The hearing loss can be attributed to a loss of sound perception that is transmitted by the nerves (sensorineural).
Causes Of Wolfram Syndrome
Wolfram syndrome is primarily caused by mutations in the WFS-1 or WSF-2 gene that are typically inherited in an autosomal recessive pattern in a majority of affected individuals, although dominant forms, too, exist.
Recessive genetic disorders typically occur when an individual inherits 2 copies of an altered gene for the identical trait, one from each parent.
Wolfram Syndrome Diagnosis
Diagnosis of Wolfram Syndrome is a tad difficult. In many instances, individuals with this disorder and their doctors may be quite unaware that the numerous symptoms and complaints are closely related and indicate a specific condition.
In the initial phases, the entire focus may be on one symptom: diabetes mellitus and its treatment. Later, the emergence of other symptoms may become quite apparent.
Wolfram syndrome must be considered in any individual with diabetes mellitus and optic atrophy; any individual with low-frequency, sensorineural hearing loss; any individual with either diabetes mellitus or optic atrophy in addition to the loss of hearing or bladder dysfunction or diabetes insipidus or loss of sense of smell or a family member who has developed Wolfram syndrome.
Molecular testing of genes for mutations in both WFS-1 and WFS-2 is widely available to successfully confirm the diagnosis.
Treatment Of Wolfram Syndrome
When it comes to Wolfram syndrome, treatment is both symptomatic and supportive. There needs to be a multidisciplinary effort to successfully manage the diverse aspects of this condition. If diabetes mellitus is present, the individual will be put on insulin treatment. It is quite difficult to diagnose diabetes insipidus, but it can be treated with intranasal or oral dDAVP (desmopressin). Treating this form of diabetes can get complicated because the individual may additionally have bladder dysfunction as well as diabetes mellitus.
Individuals with hearing loss may opt for cochlear implants or hearing aids, besides accommodations for hearing loss. All individuals need to be monitored by an ophthalmologist and may require spectacles or other accommodations for low vision, such as large-print reading materials, high-contrast visuals at work or at school, and allowances for colour-blindness, among others.
Genetic counselling is highly recommended for the patients of this disorder as well as their families.
On A Final Note
Wolfram syndrome is a rare genetic disorder and is also known as DIDMOAD, which is the abbreviation for diabetes insipidus diabetes mellitus optic atrophy and deafness. It is caused by specific mutations in the WFS-1 or WFS-2 genes. Because of the nature and gravity of the symptoms, adequate care needs to be administered to those with this disorder.
