Hurler syndrome: Treatment, symptoms, advice and help
About hurler syndrome
Hurler syndrome is a very rare condition which belongs to a group of disorders called ‘mucopolysaccharidosis’ wherein deficiency of a metabolic enzyme leads to increased accumulation of mucopolysaccharides in the body organs. It is an inherited disease with fatal complications.
Hurler syndrome: Incidence, age and sex
Hurler syndrome is present since birth but may clinically appear at around 2-5 years of age. Almost 1 in 150,000 infants may get affected. It occurs equally in boys and girls.
Signs and symptoms of Hurler syndrome: Diagnosis
The clinical features of Hurler syndrome are not quite evident at birth. However, as the age of child increases, the manifestations begin to appear. There seem to be developmental delay in milestones. Physical malformations involving face, stature and spine are seen. Facial features become coarse with thick and dark eyebrows, bulky tongue and low nasal bridge. The affected child shows short stature with spinal problems. Other features like hearing and vision loss, stiffness in joints and heart problems may also ensue. The child shows progressive impairment of mental faculties.
A detailed clinical examination may reveal physical abnormalities like claw hand, hernia and cloudiness in cornea (transparent film in front of eye). Investigations like electrocardiography, imaging of chest and spine may help in looking for multiple organ involvement. Urine analysis may reveal abnormal presence of mucopolysaccharides which confirms the diagnosis of Hurler syndrome.
Causes and prevention of hurler syndrome
Hurler syndrome is a hereditary disorder which results from the absence of a metabolic enzyme named ‘lysosomal alpha L iduronate.’ This results in excess storage of mucopolysaccharides in several organs, thereby damaging them. It is an autosomal recessive disorder, meaning it requires defective genes from both the parents, in order to cause the disease in the baby. Couples with a family history of Hurler syndrome are advised to go in for genetic counselling when planning a family.
Hurler syndrome: Complications
Hurler syndrome is a serious disorder which may progress to fatal health problems like heart failure and pneumonia, which may result in death.
Hurler syndrome: Treatment
Unfortunately, the available treatment modalities are not very promising in curing the disease. However they include intravenous replacement of enzyme and bone marrow transplantation. These treatment modalities may help in slowing the progression of the disease but not providing any curative relief. Symptomatic relief and supportive care play an important role in managing the condition. Hurler syndrome carries a poor prognosis with most of the affected individuals succumbing to fatal complications of the disease, by early adulthood.