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 Rare Diseases and Inborn Errors of Metabolism Unit at the 12 de Octubre University Hospital and a specialist in these types of rare diseases, begins by defining this condition by referring to its genetic nature, which is autosomal recessive. “Each person has two genes that determine this condition, one from each parent. Both parents can be carriers of a mutated gene without developing the disease themselves. Only when one of their offspring inherits two defective genes—one from each parent—does the disease manifest,” she explains.
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 highlights the intrinsic nature of ASMD, which is characterized by the absence of a crucial enzyme that removes waste products from the body. “I always use the same analogy: I tell patients that in ASMD, as with other lysosomal diseases, what’s missing is the ‘vehicle’ that collects certain waste products. Their genetic mutation prevents it from forming, and therefore the waste accumulates in the patient’s cells—especially in the lysosomes—which causes progressive symptoms. The fewer ‘vehicles’ we produce due to the genetic mutation, the sooner the waste will accumulate. There are patients, however, who may not be diagnosed until they are 50 or 60 years old” because they have enough transporters to clear some of the waste, so it takes longer 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 on children, who often experience developmental setbacks. “Imagine a young child who used to walk, play soccer, and talk, and suddenly begins to lose those skills gradually. It’s very hard on families, though not so much on the patient, who may not even be aware of it,” he adds.
Adults, on the other hand, may experience more subtle symptoms, such as liver and spleen problems, which often lead to misdiagnosis or delayed diagnosis. “The complexity of this disease often means it is not immediately recognized, which can delay necessary treatment and, as a result, worsen the symptoms,” he notes.
The management and treatment of ASMD involve a diverse team of specialists, including neurologists, internists, and pulmonologists. “Each case is unique and requires personalized care. It is crucial to work together to address all aspects of the disease,” he explains. In addition, regular follow-up includes blood tests, ultrasounds, and neurological evaluations to monitor the progression of the disease.
Emotional impact on families
One of the most difficult aspects of ASMD is the emotional impact it has on families. “We’re not prepared to face a disease like this in a child. It’s one of the most painful experiences parents can go through,” reflects Dr. Morales. This reality can be overwhelming, and it’s essential that families have access to adequate support resources. “If something happens to you as an adult, well, you have the age and maturity to handle it, but when it happens to your child, no one is prepared. It’s an excruciatingly painful disease for families.”
Many doctors emphasize the importance of patient organizations. “There are many organizations that offer information and emotional support, and specifically, ASMD España does a phenomenal job in our country. These communities are essential for helping families navigate this difficult situation,” she says. In addition, the internet has emerged as a vital tool for finding information and connecting with others who face similar challenges and who, in one way or another, have created channels for communication and raising awareness about this condition.
Research and hope for the future
Life expectancy for adults with ASMD, which was previously significantly reduced, has begun to change with the introduction of new treatments. “Before 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 these patients’ life expectancy will come closer to that of a healthy person,” explains Dr. Morales. This development offers great hope, although the long-term effects remain to be seen.
Regarding research on ASMD, the expert expresses optimism: “We are seeing advances that could change the way we manage this disease.” Her hope—and that of all doctors who dedicate their lives to treating these conditions—is that, over time, these treatments will continue to improve patients’ quality of life more and more.
He also emphasizes the need to raise awareness about this rare and ultra-rare condition, not only among healthcare professionals but also among the general public. “It’s a rare disease, but that doesn’t mean we shouldn’t talk about it. Early detection and proper treatment can make a huge 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.
