Fabry disease superimposed on overt autoimmune hypothyroidism

Area of Science:

• Genetics
• Endocrinology
• Rare Diseases

Background:

• Fabry disease (FD) is an X-linked disorder resulting from alpha-galactosidase A deficiency, leading to systemic globotriaosylceramide accumulation.
• Clinical manifestations of FD typically involve the heart, kidneys, brain, and gastrointestinal system.
• Nonautoimmune thyroid dysfunction has recently been identified as a clinical feature of Fabry disease.

Observation:

• A case report of an 11-year-old boy with goiter and stunted growth, initially diagnosed with autoimmune hypothyroidism.
• The patient developed characteristic FD symptoms, including burning foot pain, during levothyroxine therapy.
• Diagnosis of FD was confirmed by low blood alpha-galactosidase A activity.

Findings:

• This study describes the first reported case of Fabry disease occurring subsequent to overt autoimmune hypothyroidism.
• The patient presented with a unique clinical course, highlighting the complex interplay between these two conditions.
• The findings underscore the importance of considering FD in patients with unexplained hypothyroidism and neurological symptoms.

Implications:

• This case expands the known clinical spectrum of Fabry disease.
• It suggests a potential association between autoimmune thyroiditis and Fabry disease, warranting further investigation.
• Early recognition and diagnosis of FD in patients with thyroid dysfunction are crucial for timely management and improved outcomes.