From the Guidelines
A low erythrocyte sedimentation rate (ESR) in ataxia telangiectasia (AT) is a common laboratory finding that reflects the underlying immunological abnormalities in this condition, and it is essential to interpret this finding in the context of the patient's overall clinical picture and immunological status rather than as an isolated abnormality requiring correction. Ataxia telangiectasia is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, and increased cancer susceptibility, as described in the practice parameter for the diagnosis and management of primary immunodeficiency 1. The low ESR occurs because patients with AT often have decreased serum immunoglobulin levels, particularly IgA and sometimes IgG and IgE, which is a common finding in about one third of patients, supporting a defect in class-switch recombination 1.
Key Points to Consider
- The low ESR in AT patients is a reflection of their underlying immunological abnormalities, including decreased serum immunoglobulin levels and impaired immune function 1.
- The diagnosis of AT should be suspected in patients with developmental delay, short stature, dysmorphic facies, and hypogammaglobulinemia, and confirmed by measuring the serum α-fetoprotein (AFP) level, which is increased in 95% of patients 1.
- Clinicians should focus on managing the primary condition through multidisciplinary care, including neurological support, pulmonary care, immunological monitoring, and cancer surveillance, rather than attempting to correct the low ESR.
- The low ESR should be interpreted in the context of the patient's overall clinical picture and immunological status, taking into account the presence of other laboratory abnormalities, such as decreased serum immunoglobulin levels and impaired immune function 1.
Management and Treatment
- The management of AT should focus on addressing the underlying immunological abnormalities and preventing complications, such as infections and cancer, rather than attempting to correct the low ESR.
- Patients with AT should receive regular immunological monitoring, including measurement of serum immunoglobulin levels and assessment of immune function, to guide treatment and prevent complications 1.
- A multidisciplinary approach to care, including neurological support, pulmonary care, and cancer surveillance, is essential to managing the complex needs of patients with AT.
From the Research
Low ESR in Ataxia Telangiectasia
- There is no direct mention of Low ESR (Erythrocyte Sedimentation Rate) in ataxia telangiectasia in the provided studies 2, 3, 4, 5, 6.
- Ataxia telangiectasia is a complex disorder characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility, and radiation sensitivity 2.
- The disorder is caused by mutations in the ATM gene, which encodes a protein involved in cellular signaling pathways in response to DNA double-strand breaks, oxidative stress, and other genotoxic stress 2.
- Patients with ataxia telangiectasia often have immunological abnormalities, including immunoglobulin and antibody deficiencies, lymphopenia, and increased alpha-fetoprotein levels 2.
- The diagnosis of ataxia telangiectasia is usually suspected by the combination of neurologic clinical features, such as ataxia, abnormal control of eye movement, and postural instability, with one or more of the following: telangiectasia, frequent sinopulmonary infections, and specific laboratory abnormalities 2.
- There are no research papers provided that directly discuss the relationship between low ESR and ataxia telangiectasia, suggesting that this topic may not be well-studied or reported in the available literature 2, 3, 4, 5, 6.