On the occasion of World Awareness Day for Acid Sphingomyelinase Deficiency, an ultra-rare disease, better known as ASMD (Acid Sphingomyelinase Deficiency), we spoke with Dr. Montserrat Morales, Coordinator of the Adult Unit for Rare Diseases and Inborn Errors of Metabolism at the Hospital Universitario 12 de Octubre in Madrid, so that she could tell us from a clinical point of view what suffering from this pathology entails.
ASMD is a rare genetic disease that presents a significant challenge for both patients and their families. With an incidence of approximately one case in 250,000 live births, according to data from the ASMD Spain Association, it is an ultra-rare disease of genetic origin, transmitted by autosomal recessive inheritance, with a variable affectation and an estimated prevalence of 2,000 patients in Europe, the USA and Japan. Specifically, and according to the latest data provided by Dr. Morales, in the count made in Spain, there were at most 40 patients in the whole territory, although in all probability, there are many undiagnosed cases.
Dr. Montserrat Morales, Coordinator of the Adult Unit of Rare Diseases and Congenital Errors of Metabolism of the Hospital Universitario 12 de Octubre and specialist in this type of rare diseases, begins by defining this pathology by referring to the genetic nature of the disease, which is autosomal recessive. "Each person has two genes that determine this condition, one from each parent. Both can be carriers of an altered gene without developing the disease themselves. Only when one of their offspring inherits two defective genes, one from each parent, does the disease manifest itself," he clarifies.
As a curious fact, years ago, this pathology was known as Niemann-Pick B but the definition was changed so as not to confuse it with other types of Nieman-Pick, which have nothing to do with the variable of this disease.
Neurological problems
Dr. Morales emphasizes the intrinsic nature of ASMD, characterized by the lack of a crucial enzyme that removes waste substances from the body. "I always make the same simile: I tell patients that in ASMD, as in other lysosomal diseases, what is missing is the vehicle that collects certain waste. Its genetic alteration means that it is not formed, and therefore the residue accumulates in the patient's cells, especially in the lysosomes, which causes progressive symptoms. The fewer vehicles we generate due to the genetic alteration, the sooner the residue accumulates. There are patients, however, who can be diagnosed when they are 50 or 60 years old" because they have enough vehicles to collect some waste and it takes longer for it to accumulate, he explains.
"With new medical and research advances, we are hopeful that
the lives of these patients will be closer to that of a non-diseased person."
This cumulative process can have devastating effects, especially in children, who often suffer developmental regression. "Imagine a young child who used to walk, play soccer and talk, and suddenly begins to lose those skills progressively. It's a very hard thing for families, not so much for the patient, who may not be aware," he adds.
Adults, on the other hand, may experience more subtle symptoms, such as liver and spleen problems, which often leads to misdiagnosis or late diagnosis. "The complexity of this disease often leads to it not being recognized right away, which can delay necessary treatment and thus aggravate symptoms," he says.
The management and approach to ASMD involves a diverse team of specialists, including neurologists, internists and pulmonologists. "Each case is unique and requires personalized attention. It is crucial to work together to address all facets of the disease," he explains. In addition, regular follow-up includes blood tests, ultrasounds and neurological assessments to monitor disease progression.
Emotional impact on families
One of the most difficult aspects of ASMD is the emotional impact it has on families. "We are not prepared to face such a disease in a child. It is one of the most painful experiences parents can go through," reflects Dr. Morales. This reality can be overwhelming, and it is essential that families have adequate support resources. "For anything to happen to you, as an adult, well, you are old enough and mature enough to deal with it, but for it to happen to your child, no one is prepared. It is a very painful disease for families."
Many doctors stress the importance of patient associations. "There are many organizations that offer information and emotional support, and specifically, ASMD Spain works phenomenally well in our country. These communities are fundamental in helping families navigate this difficult situation," she says. In addition, the internet has emerged as a vital tool for finding information and connections with others who face similar challenges and who, in one way or another, have created channels of communication and outreach about this pathology.
Research and hope for the future
The life expectancy of adults with ASMD, previously significantly reduced, has begun to change with the introduction of new treatments. "Prior to this breakthrough, life expectancy was, on average, 20 years shorter than that of the general population. With new medical and research advances, we are hopeful that the life of these patients will be closer to that of a non-diseased person," explains Dr. Morales. This development generates much hope, although the long-term effects have yet to be seen.
Regarding ASMD research, the expert expresses her optimism: "We are seeing advances that could change the way we manage this disease. Her hope, and that of all the physicians who dedicate their lives to the treatment of these pathologies, is that, over time, these treatments will continue to improve the quality of life of patients more and more".
On the other hand, he emphasizes the need for awareness of this rare and ultra-rare pathology, not only among healthcare professionals, but also in society in general. "It is a rare disease, but that does not mean we should not talk about it. Early detection and proper treatment can make a big difference in the lives of patients and their families," he concludes.
Dr. Morales' testimony underscores not only the medical challenges associated with ASMD, but also the hope that new treatments bring and the importance of supporting research into real solutions to this harsh reality that patients and families live with.
