Bloom's Syndrome: Symptoms

Bloomís Syndrome (BS) is a progeroid disease most common in the Ashkenazi (Eastern-European) Jewish population, where it is estimated that 1 in every 100 people is a carrier. Although the source of this high carrier rate is not known for certain, inbreeding is suspected as the foremost cause. BS is an autosomal recessive genetic disorder, like all forms of progeria, and cannot be "caught" from proximity to a patient.

First described by David Bloom in 1954, Bloomís syndrome was for a time thought to be confined solely to the Ashkenazi Jewish population. It has since been described in numerous other ethnicities, however, including Indian, Ethiopian, Latin American, French-Canadian, Japanese, and Turkish. Notably, parents of Bloomís Syndrome children are often not closely related among the Jewish population. However, in nearly all cases outside that ethnicity, the parents of a BS child are consanguineous, that is, very closely related to each other.

Bloomís syndrome manifests quite early, often showing symptoms while the fetus is still in the womb. The earliest noticeable symptom is slow growth, beginning as a fetus and continuing throughout childhood. Often, concerns about the childís lack of growth is what leads parents of BS children to seek medical attention. Despite the fact that patients are noticeably shorter than the general population, their limbs tend to be disproportionately long when compared to their torsos, a characteristic common to many forms of progeria. Other symptoms manifest later on, although with this disease 'later' is a relative term that can mean in some cases only a few months after birth. These symptoms include the "bird-like" facial features that are also typical of many forms of progeria (in BS, these include a large nose, small jaw, prominent eyes, and large ears). The vast majority of BS children exhibit a very specific "butterfly" pattern of dark red blotches (referred to as teleangiectatic skin lesions in technical terms) across the bridge of the nose and both cheekbones. Sometimes, but not as often, this "butterfly" area will extend further upwards and cause lesions of the eyes or scarring of the eyelids and loss of lower eyelashes. These markings are sun-sensitive, becoming darker and more prominent with prolonged exposure, and fading (though not disappearing) after avoiding sunlight for a period of time.

More serious symptoms of BS can include hyper- or hypo- pigmentation (a tendency towards unnaturally dark or light skin, respectively), diabetes mellitus, reduced fertility in females and infertility in males. Many patients also develop immune system disorders, often experiencing repeated infections particularly in the respiratory and gastrointestinal tracts.

The most dangerous symptom of BS is the greatly increased likelihood of cancer associated with the disease. Patients are 150% - 300% more likely to develop malignant tumors than the general population, particularly in skin, blood, and epithelial cells. Cancer also develops far more quickly in BS patients, often during the teenage years, although patients as young as three years of age have shown tumors. Leukemia is a particular problem, typically developing at an average age of 22. While most normal leukemia patients develop the leukocytosis form of the cancer, BS patients are far more likely to exhibit leukopenia. Leukocytosis represents an excess of white blood cells in the bloodstream, while leukopenia is the opposite: too few of these critical cells.

The lifespan of a BS patient varies considerably. Some children have developed malignant tumors as young as five years old, while others donít develop malignancies until their late teens. Leukemia usually occurs in the late teens or twenties, and solid tumors develop at an average age of 35. These cancers do respond to treatments, however, their high rate of occurrence and malignancy, as well as their toll on the overall immune system, mean that BS patients usually do not live nearly as long as the general population. How long precisely that may be depends heavily on the individual course of the disease and the access to quality cancer care.