Also referred to as faciocutaneoskeletal (FTS) syndrome on occasion, Costello syndrome is a disorder characterized by slow mental progression and an overall level of delayed development. While the disease itself is not a direct cause of death, many ancillary symptoms and conditions will generally shorten one's lifespan. To put this another way, life expectancy is often related to the presence of heart problems and/or cancerous tumors. Let us take a look at some of the conditions which may have an influence on longevity as well as the means by which it may be possible to prolong one's life.
In this manner, we will only be referring to those which can be correlated with one's lifespan. While some visual symptoms such as enlarged folds of skin around the hands and feet will aid in diagnosis, these are generally not thought to impact one's lifespan. The primary risks arise from three important areas:
We will be focusing upon these scenarios for the remainder of this article.
It is quite common for those with this illness to be predisposed to a number of debilitating and potentially fatal heart conditions. The most prevalent include tachycardia, structural defects within the heart and hypertrophic cardiomyopathy (an enlarged heart). It is therefore very common for patients to receive cardiac evaluations once they are initially diagnosed and as the disease progresses. They are also recommended to modify their diet to avoid other problems such as high blood pressure.
Levels of growth hormone will usually peak around puberty and progressively decrease thereafter. However, this normal deterioration can be enhanced by the presence of Costello syndrome. Growth hormone is one of the chemicals responsible for regulating the fat-to-muscle ratio and initiating cellular repairs throughout the body.
Although there may not be any direct correlation between lower amounts of growth hormone and earlier mortality rates (in reference to Costello syndrome), it can be extrapolated that a lack of this regulatory chemical may be partially responsible for the increased chances of developing potentially fatal conditions such as cancer.
Beginning in early adolescence, is it common for Costello syndrome sufferers to develop non-cancerous lesions on the skin known as papillomas. These will most often appear around the mouth, nose and anus. It is not likely that this condition will develop into a form of malignant cancer. However, the chances of developing secondary cancerous tumors progresses as age increases. Some of varieties that tend to be more statistically common include:
The type and severity of these cancers will have an obvious impact upon life expectancy. Other mitigating factors include the age of the patient, his or her general health and their access to innovative medical treatments.
While the exact cause of Costello syndrome is not well understood, it is known that the disease is genetic in basis. Some progress has been made in the development of a treatment involving a mutation known as G12V. When this genetic sequence was introduced into laboratory mice, their chances of developing tumors seemed to have dramatically decreased (1). It is thought that the use of animal models can help to speed up the identification of treatment options for humans.
Ultimately, the life expectancy of those with Costello syndrome is just as varied as the individuals themselves. The early diagnosis and treatment of heart conditions and specific cancers is the best way to ensure a longer lifespan.
Sources: 1. Schuhmacher, A. Et al. The Journal of Clinical Investigation (2008) v.118 (6): 2169–2179.