A case study detailing a younger man admitted to a hospital for a stroke — later attributed to Fabry disease — highlights the importance of family history in diagnosing diseases, especially rare diseases like Fabry, that have a wide range of clinical manifestations.
The case report, “Fabry Disease Diagnosis in a Young Stroke Patient: A Case Report,” was published in the journal Archives of Neuropsychiatry.
People with Fabry disease are often diagnosed late, after complications are evident in the kidneys, heart and brain. Central and peripheric neurological complications are frequently seen in the course of this disease, and stroke is often the first cause of hospitalization.
Researchers in Turkey detailed the case of a 39-year-old man hospitalized after an ischemic stroke — a stroke caused by blockage of an artery carrying blood to the brain. Clinicians found that the patient’s left ventricle (the heart’s main pumping chamber) was enlarged, a condition called left ventricle hypertrophy. This condition causes the left ventricle to work harder, leading to the loss of muscle elasticity and may ultimately impair the ventricle to pump blood with the necessary force.
Left ventricle hypertrophy was, at first, determined to be the probable cause for the stroke.
A detailed family history, however, found a nephew diagnosed with Fabry disease. The medical team then “learned that our patient has been experiencing typical clinical manifestations of [Fabry disease], such as recurrent fever, neuropathic pain in distal extremities, painful acroparesthesias [tingling sensation in the hands and feet], intolerance to cold and heat, hypohidrosis [low sweat production], and gastrointestinal disturbances since age 7,” the researchers wrote.
So they checked levels of alpha-galactosidase A enzyme — whose loss underlies Fabry disease due to a mutation in the GLA gene — and found enzyme activity was low. Genetic analysis of the GLA gene also revealed a known mutation, resulting in a confirmed diagnosis of Fabry disease.
The patient was discharged without any signs of neurological symptoms.
Three months later, he returned to the hospital having developed chronic kidney disease, as shown by proteinuria (abnormal quantities of protein evident in the urine) and high levels of urea (a waste product also released in the urine).
He began treatment with enzyme replacement therapy and — now age 43 — has been treated for one year. The man has had no further problems with stroke, but his renal status has declined and he now requires hemodialysis.
“[D]espite the presence of a cardiovascular risk factor for stroke, our paper demonstrates the value of taking a proper medical treatment and family history while evaluating a young stroke patient. Early diagnose of the disease is important for treatment with ERT [enzyme replacement therapy],” the authors concluded.