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.