RARE DISEASES

Survival of the rarest

34-Survival

Lack of awareness is a hurdle in the early diagnosis and treatment of Lysosomal Storage Disorders

  • Timely diagnosis is vital for improving care and providing treatment for those affected with a rare disease.

It is said that early detection is the best possible protection. Timely and accurate diagnosis has important implications. While this is true for all diseases, in the case of Lysosomal Storage Disorders (LSDs), the role of diagnosis becomes all the more vital. LSDs are a group of around 50 rare inherited metabolic disorders. People suffering from these disorders have deficient activity of certain degradative enzymes causing accumulation of undigested substances in different organ systems.

Some of the common LSDs are Gaucher disease, Mucopolysaccharidosis I (MPS I), Hunter syndrome (MPS II), Pompe disease, Fabry disease, Morquio syndrome (MPS IV), Niemann Pick’s disease and Taysach’s disease. Common organs and systems affected by LSDs include brain, skeletal, cardiac and gastrointestinal systems, eyes and ears. Those who suffer from LSDs are more likely to lead a debilitating life. The fact that these disorders are usually misdiagnosed or diagnosed late compounds the problem.

Some LSDs may be present in a mild form, while some others have a severe impact on the patient. Even the same LSD can have milder and severe forms, depending on the severity of the gene defect in patient and residual activity of the enzymes. Some patients survive into adulthood, but those with severe forms die in their teenage or earlier.

Enzyme Replacement Therapy (ERT) is available for some of the LSDs like MPS (I, II, IV, VI), Gauche disease and Fabry disease. This has positively impacted the life of many patients. So, it becomes extremely important to lay emphasis on early diagnosis of these diseases.

Timely diagnosis is vital for improving care and providing treatment for those affected with a rare disease. When physicians suspect these disorders, the first step is a detailed clinical evaluation and screening like blood count test, bone marrow examination, X-ray, creatine phosphokinase (CPK) test, urine examination and cardiac evaluation. Specific investigations include enzyme assay in white blood cells. It is ideal to get molecular studies done to confirm the gene defect.

Unfortunately, there are several challenges leading to a delayed diagnosis of LSDs. These disorders mimic symptoms of other diseases, which often leads to misdiagnosis or late diagnosis. For instance, the symptoms of Pompe disease are often confused with neuromuscular disorders. Lack of genetic counselling and new-born screening facilities, dearth of diagnostic centres and mistaking the symptoms to be of a common disorder are some other key issues. To counter these challenges, there is a need to recognise the hurdles that patients and carers face, and take necessary actions.

Health care practitioners as well as parents should be made aware of the tests during pregnancy in high-risk cases. Gynaecologists and the paediatricians should be engaged in conversations around the importance of early genetic screening for rare diseases. Parents should be educated on various aspects of the genetic diseases—like risk factors that include family history and consanguineous marriage, prenatal tests and treatment options—once the disease is diagnosed.

An LSD might have various presentations in affected children which include developmental delay, abnormal movements, blindness, deafness, seizures, dementia, enlarged liver and spleens, and skeletal manifestations. Since the symptoms vary in severity in individual patients, the onus lies on health care professionals to identify them and confirm the diagnosis at the earliest.

A framework is required to provide infrastructural and skill support to the diagnostic centres at the local level, where awareness about rare diseases is comparatively less. In addition, establishing patient support groups where affected children and families can engage and share their experiences would also help in enhancing the understanding of the importance of early diagnosis and right treatment.

The pathway to timely diagnosis of LSDs can be helped only if all the stakeholders join hands and work towards finding solution to this issue. Only such all-encompassing and sustained efforts around early diagnosis, counselling, treatment and prevention can help in building a progressive environment for the effective management of rare diseases in India. With the health ministry now offering support for the diagnosis and treatment of LSDs, the time is conducive to spread awareness about symptoms of these disorders, importance of early diagnosis and available treatment options.

Dr Madhulika Kabra is additional professor & officer-in-charge, genetics unit, department of paediatrics, AIIMS.

This browser settings will not support to add bookmarks programmatically. Please press Ctrl+D or change settings to bookmark this page.
The Week

Topics : #health

Related Reading