A rare genetic disorder that causes diabetes and vision problems and begins in childhood (before age 15) is called Wolfram syndrome. Moreover, it negatively affects brain function, causing its degeneration. While the outlook of this disorder is poor, some research and clinical trials may help reduce the symptoms and improve your quality of life.
In other words, this is a neurodegenerative condition that causes damage to the brain and other structures and organs in the body. Sometimes, impaired brain function may even lead to death. In general, this condition occurs very rarely and affects 1 in 770,000 people in the UK (United Kingdom). According to some research, this disorder may occur more commonly in people who are close relatives and have children.
Types of Wolfram Syndrome
Experts have categorized this disorder into 2 types based on the affected genes. For example:
- Wolfram syndrome type 1 – This type occurs due to a change (mutation) in the WFS1 gene.
- Wolfram syndrome type 2 – In such cases, the genetic disorder happens due to a mutation of the WFS2 (CISD2) gene.
Symptoms
Usually, people experience different symptoms because it depends on several factors. These include the type and severity of the condition, which structures and organs in the body are affected, age, and overall health. Check below some examples:
Wolfram Syndrome Type 1 Symptoms
The following symptoms usually appear during childhood or adolescence. Examples include:
- Diabetes mellitus (age 6) – This condition affects the body’s ability to absorb sugar (glucose) from food. In normal circumstances, the pancreas produces insulin that helps transform glucose into energy. If there is not enough insulin, it may lead to increased blood sugar levels. While it is very similar to type 1 diabetes, it is not an autoimmune disease. Frequent urination, increased thirst, blurred vision, and unusual weight loss are the most common symptoms.
- Optic atrophy (age 11) – This is a condition that causes degeneration of the optic nerve. It carries signals between the brain and the eyes. The most common symptoms include blurred and decreased peripheral (side) vision.
- Sensorineural hearing loss (age 13) – This disorder causes damage to the inner ear, which eventually may lead to hearing loss as well as complete deafness.
- Diabetes insipidus (age 14) – Generally, this type of diabetes is not related to diabetes mellitus. It causes a problem with the production of antidiuretic hormones responsible for the amount of water in the urine. Those who develop diabetes insipidus have increased amounts of watery urine. Frequent and excessive urination may lead to dehydration, electrolyte imbalance, weakness, dry mouth, and even constipation.
Formerly, this disorder was called DIDMOAD. This medical term comes from the primary symptoms. For example:
- Diabetes insipidus (DI)
- Diabetes mellitus (DM)
- Optic atrophy (OA)
- Deafness (D)
Furthermore, Wolfram syndrome type 1 may also cause other symptoms. For example:
- Hormone disorders – These include hypopituitarism, hypogonadism (reduced sex drive), growth delays, and delayed onset of menstrual periods.
- Neurological issues – For example, ataxia (a condition that causes problems with coordination and movement), dementia, central sleep apnea, reduced sense of smell and taste, and others.
- Psychiatric disorders – including depression, panic attacks, anxiety, mood swings, and others.
- Urinary tract irregularities – These include urinary incontinence, urinary tract infections (UTIs), and others.
Wolfram Syndrome Type 2 Symptoms
While symptoms of this type are very similar to the first one, it may also include abnormal bleeding and gastrointestinal ulcers. In most cases, people who develop Wolfram syndrome type 2 do not have diabetes insipidus or psychiatric disorders.
In addition, the second type of Wolfram syndrome occurs extremely rarely. Physicians diagnosed it only in a few families in the whole world.
Causes
This is an inherited disorder that often occurs when the baby receives abnormal genes from both biological parents. Rarely, some children may develop Wolfram syndrome type 1 even with only one gene from one biological parent. However, if you get only one abnormal gene, you become a carrier. It means this abnormal gene can be passed to your biological children in the future. Usually, carriers do not experience any symptoms associated with this disorder.
Prevention
You cannot prevent this disorder because experts do not fully understand what exactly causes gene mutations that lead to Wolfram syndrome. However, you can perform some genetic tests to make sure you do not have this mutated gene, especially if you plan to have a baby. Moreover, it is very important to understand the risks of having children with this genetic disorder.
Diagnosis
Sometimes, it can be difficult to diagnose this genetic disorder, because they can diagnose diabetes mellitus, but cannot make the link between them. In most cases, the diagnosis happens when the affected person experiences multiple symptoms. However, if your doctor suspects Wolfram syndrome, he/she may perform a genetic test to check for the abnormal gene. Generally, this is the only test that can confirm or rule out this genetic condition.
Treatment
Nowadays, there are no specific treatments that can slow or stop the progression of this syndrome. That’s why the treatment goal is to reduce the symptoms and prevent life-threatening complications. For instance, doctors usually prescribe medicines to treat diabetes mellitus and manage blood sugar levels. In most cases, they recommend insulin. You may also get a prescription for hearing aids to help with hearing loss.
Moreover, experts continue studying therapies that may improve the prognosis for those who suffer from Wolfram syndrome. Check below some treatment strategies:
- Medicines that reduce cell damage caused by reduced or a lack of proteins
- Gene therapy that helps repair or replace changes WFS1 and WFS genes
- Regenerative therapy (it is used to heal or replace damaged tissues)
Some of the previous treatments are now available through clinical trials. Discuss it with your healthcare professional about emerging treatments, whether they can be an option for your child.
Frequently Asked Questions
Is Wolfram syndrome fatal?
Generally, this condition has a poor outlook. For instance, in one study of 45 patients, life expectancy varied from 25 to 49 years with an average of 30. In most cases, death occurs due to the deterioration of the brainstem that is responsible for multiple vital functions in the body (including breathing, heart rate, and others).
What are the four common features of Wolfram syndrome?
These include diabetes mellitus, optic nerve atrophy, central diabetes insipidus, and sensorineural deafness. However, people with Wolfram syndrome may also experience urinary tract infections, progressive neurologic difficulties, and other health problems.
What is the mental health of a person with Wolfram syndrome?
It is common for people with this genetic disorder to experience psychiatric problems. These include psychosis, depression, impulsive and aggressive behavior, and others. If you have additional questions, ask your healthcare provider.
