Although treatment can help the majority of individuals suffering from this unusual metabolic disorder, patients still face the possibility of many complications linked to Gaucher’s disease. Even before they develop any complications, many patients suffer from a number of serious symptoms, ranging from fatigue to skeletal problems to mental retardation.
Overview of Gaucher’s Disease
This cause of this condition is a deficit in the enzyme glucocerebrosidase. Its role is to break down fatty materials called glucocerebrosides. In Gaucher’s patients, unhealthy amounts of these fatty substances accumulate in the spleen, lungs, liver and bone marrow. Sometimes they even collect in the brain.
This disorder also has a genetic basis. According to the Mayo Clinic, it’s the result of an autosomal recessive pattern, which means both parents have to be carriers of a genetic mutation for a child to develop the associated condition. Researchers have identified more than 300 genetic mutations linked to Gaucher’s disease.
The symptoms, complications and treatment of this disorder are all linked to which type of the illness a patient has.
The Three Types
There are three types of Gaucher’s disease:
Type 1 is the mildest and the most common, according to the National Institute of Neurological Disorders and Stroke (NINDS). The type accounts for around 90 percent all cases. Some individuals have symptoms so mild that no treatment is necessary. Typical signs are skeletal abnormalities, an enlarged liver, fatigue, nosebleeds, delayed onset of puberty and yellow spots in the eyes. If a patient needs treatment, doctors would most likely recommend enzyme replacement therapy, a bone marrow transplant or an oral medication called miglustat (brand name: Zavesca).
Type 2 is rare and the severest form of Gaucher’s disease. It develops in infancy and progresses rapidly, causing the symptoms of Type 1 plus rigidity, mental retardation and dementia in some patients. There is no treatment for Type 2.
Type 3 is also rare but begins later in childhood or in adolescence. Brain involvement is milder than in type 2. Patients can suffer symptoms associated with Type 1 plus abnormal eye movements and muscle problems. The same types of treatment are used for both Types 1 and 3.
Complications of Gaucher’s Disease
While some complications are common to all types of this disorder, some are linked only to Type 2 or Type 3. The complications that can develop with all three types include:
Bone pain. In some cases, it can progress to severe and incapacitating. It can also be associated with fractures.
Bleeding. Patients with Gaucher’s disease sometimes develop a tendency to bleed. As a result, they an experience repeated hemorrhages in their nasal cavities or nostrils. Some also experience bruising beneath the skin, a condition known as ecchymosis.
Elevated cancer risk. Older Gaucher’s patients face an increased probability of developing specific types of cancer, multiple myeloma in particular.
Complications associated solely with Type 2 are primarily neurological. Patients might experience problems swallowing, have an abnormal gait or experience seizures. As these issues progress in severity, they can become debilitating and result in death.
Patients who have Type 3 have a heightened chance of developing calcification of their heart valves. Once these valves have been damaged, it becomes increasingly harder for them to open all the way and work efficiently.
While pregnancy might cause symptoms to worsen, most women with this condition have successful pregnancies. For patients and their families seeking support for the complications of Gaucher’s disease, the National Gaucher Foundation has a mentoring program available to connect people who suffer from the disorder.