TEHRAN —Iran’s Ministry of Health has planned on performing screening test for mucopolysaccharidoses (MPS) to provide the patients with free of charge healthcare services, ISNA reported on Friday.

MPS are a group of metabolic disorders which are rare, life-limiting, progressive, genetic conditions caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans.

Patients with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.

Some 8 centers are selected for the patients nationwide to undergo screening tests, so that in case they are diagnosed with the disease, they will be registered on the Health Ministry list, Mehdi Shadnoush, an official with the ministry said. 

Shadnoush said that the disease is costly and the patients must be supported regarding different aspects of their lives, so “we” need to exactly know how many patients are suffering the disease and which type of the disease they are diagnosed with.

He also highlighted that as planned individuals with MPS will be diagnosed by the end of the current [Iranian calendar] month of Mehr (October 22) and their medical records will be completed by the end of the autumn. 

MPS is included in the Ministry of Health rare diseases list and patients can benefit financial supports provided by the ministry, Shadnoush added. 

He also said that the exact number of patients with MPS is not known now and will be announced once the registry is completed. 
  
Commenting on the expenses incurred on the ministry to provide MPS patients with medications Shadnoush explained that currently the government spends 15 billion rials (nearly $350,000) annually for each patient’s medicine. 

After the registry is completed patients with specific types of the disorder can receive bone marrow transplantation as well as rehabilitation services including occupational and physical therapy and medications, he added. 

Ideally speaking, Shadnoush suggested, by screening the patients we are also aiming to identify individuals who are carrying a defective allele to avoid having new cases of the disorder in the future.

Moreover, in case we manage to conduct bone marrow transplantation for the patients born with the disorder, especially those under age two, they are more likely to have a fairly normal life, he concluded.

MPS singes and symptoms

According to rarediseases.org individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarse” facial features, and abnormalities of the skeleton especially joint problems. Additional findings include short stature, heart abnormalities, breathing irregularities, liver and spleen enlargement and/or neurological abnormalities. 

In most cases of MPS, affected infants appear normal at birth and symptoms become apparent around the age of one or two. Initial symptoms may include frequent colds, runny nose, infections, growth delays, or mild developmental delays. Mild forms of these disorders may not become apparent until childhood or adolescence. 

The prevalence of all forms of mucopolysaccharidosis is estimated to be one in 25,000 births. However, because mucopolysaccharidoses, especially the milder forms of the diseases, often go unrecognized, these disorders are under-diagnosed or misdiagnosed, making it difficult to determine their true frequency in the general population.

Surgery may be used to treat a variety of symptoms associated with mucopolysaccharidosis, including carpal tunnel syndrome, skeletal malformations, and hernias. 
Genetic counseling will be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

MQ/MG