Experts taking exception to rampant trend of consanguineous marriages in many of the local communities said it has led to series of rare metabolic diseases among the children including that of Lysosomal Storage Disorders (LSDs).
Talking to APP they said that though no data or disease registry exists in the country yet more than 100 patients are likely to be affected every year by treatable LSDs.
Dr Tahir A Shamsi, a senior transplant surgeon, Dr Saquib A Ansari, a known haematologist and Dr Ayesha Mehnaz, senior child specialist were unanimous in their claim that Pakistan has emerged home to a large number of suspected LSD cases. All this is because of inter-family marriages, they said mentioning that lysosomal disorders affect 1 in 10,000 infants at birth. In Pakistan, the frequency is expected to be higher due to consanguineous marriages in many communities, said the experts.
They sought coordinated efforts, involving doctors, government, NGOs/philanthropists, patients' families, pharmaceutical companies and patient support societies to help children born with LSDs.
Dr Tahir A Shamsi, in reply to a question, said Lysosomal LSDs are a group of around 45 rare, genetic disorders consequent to a defect in the special chemicals called enzymes that are required to break down certain waste products in the body. As these enzymes are found in a compartment of the cell called lysosome, hence the name given to these disorders is LSDs, he said.
To another query, he said as a result of the deficiency of the enzyme various "waste products" inappropriately accumulate in the cell. Over time, the amount of material building up in each lysosome causes it to swell and occupy more space in the cell, leading to interference with normal cellular function. Consequently the liver, spleen, and bone get enlarged and the skin becomes coarse, resulting in a wide variety of clinical symptoms, elaborated the surgeon.
Symptoms of LSDs were cited to vary from mild to severe, depending on the disorder and variables like age of onset.
They can include developmental delay, movement disorders, seizures, dementia, deafness and/or blindness. Some people with LSDs have enlarged liver (hepatomegaly) and enlarged spleen (splenomegaly), pulmonary and cardiac problems, and bones that grow abnormally.
Progressive physical and/or mental deterioration over time was also said to be a manifestation of LSD. Lysosomal storage disorders affect mostly children and due to lack of awareness the diagnosis is often made late hence almost 30 per cent of those affected children die at a young age. Dr Saqib Ansari said lack of awareness is such that many times the affected child dies before a definite diagnosis is made. Due to the involvement of multiple organs, LSDs can often be mistaken for other disorders.
They regretted that many a times GPs unaware that treatment options were now available, in the country, for these metabolic disorders little attention is paid to obtain a proper and accurate diagnosis.