Regular Blood Pressure Screening to Decrease Stroke Risk in Hypertension and Brachydactyly Syndrome

We report a case of a young women with hypertension and brachydactyly syndrome, highlighting the importance of blood pressure control in these patients, as there is an increased risk of stroke at age less than 50 years form severe hypertension starting at a very young age.

Case Description:

Our patient is a 22-year-old female with history of type 1 diabetes, brachydactyly and short stature. She was first seen in endocrinology clinic at the age of 19 years for diabetes management. Review of her history revealed that she had significant intrauterine growth retardation and was born at 36 weeks, weighing 3lbs, 9oz. She was found to have short stature for her age and treated with growth hormone during childhood. Workup for hormonal causes of growth retardation was unremarkable. At age of 8 years, she was diagnosed with autoimmune hypothyroidism and started on thyroid replacement therapy. She was diagnosed with type 1 diabetes at age 13, when she presented with symptoms of polyuria and syncope. She underwent karyotyping before seeing us and was 46, XX. Her family history was unremarkable, both her parents and her 2 brothers were heathy with normal height.

During a routine follow-up visit, she was noted to have elevated blood pressure. Review of a week-long blood pressure log following the visit, showed diastolic blood pressure elevation. Initial laboratory evaluation for secondary causes included complete metabolic panel, lipid panel, urinalysis and TSH, which were normal. Further assessment included 24-hour urine cortisol and fractionated metanephrines, plasma aldosterone concentration, plasma renin activity, and were within normal limits. She continued to have elevated diastolic blood pressure and was started on antihypertensive medication with good response.

Discussion:

Hypertension and brachydactyly syndrome has been described in literature and is characterized by the triad of short stature, hypertension and brachydactyly. It is a rare autosomal dominant syndrome and is caused by heterozygous mutation in PDE3A gene. Patients with this syndrome have been reported to die at relatively young age secondary to stroke. The mechanisms of stroke are unknown; however, it has been postulated that chronic undetected severe hypertension plays a role. Blood pressure control helps decrease this risk. We bring to attention here a case of hypertension and brachydactyly syndrome, highlighting the importance of blood pressure screening at each visit. This helps mitigate the risk of stroke in this patient group.