The rare in the common: unsuspected Fabry disease in a large family with common diseases.

BACKGROUND

Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency of the enzyme alpha-galactosidase A (encoded by the GLA gene). Affected individuals present hypertension (HT), acroparesthesias, and cardiovascular damage.

OBJECTIVE

Here we describe the clinical presentation of a 5-generation family affected by FD with a late diagnosis because their pathology was masked by common diagnoses such as diabetes mellitus (DM), obesity, schizophrenia, and essential HT.

MATERIALS AND

METHODS

Clinical information was obtained from 71 family members, and molecular testing was performed on 40 of them.

RESULTS

In twenty-one patients, Sanger sequencing identified the GLA gene variant NM_000169.2: c.166T > C p.(Cys56Arg). In positive patients, DM, rheumatoid arthritis, and Graves' disease were observed concurrently. Hence, a possible relationship between immunological diseases and FD cannot be ruled out.

CONCLUSION

Suspecting a rare disease only after ruling out common diseases can lead to diagnostic and treatment delays. Well-trained clinicians are required to accurately identify the myriad symptoms of FD.