Endocrine Abstracts

Introduction: The diagnosis of hereditary hemorrhagic telangiectasia (HHT) is definite if 3 of the following criteria are present, possible or suspected if 2 are present and unlikely if fewer than 2 are present:

• Epistaxis.

• Telangiectasias.

• Visceral lesions: gastrointestinal, pulmonary, hepatic, cerebral and spinal).

• Family history: a first-degree relative with HHT.

Case presentation: She is 81 years lady, well-known case of HHT. She was found to have hypercalcemia on a routine checkup. Her hypercalcemia was proved to be caused by primary hyperparathyroidism. Patient’s blood tests showed hypercalcemia (serum levels of corrected calcium was 2.8 mmol/l), hypophosphatemia (phosphorus of 0.75 mmol/l respectively), high levels of parathyroid hormone (16 pmol/l) and hypercalciuria. However, she did not have any symptoms of hypercalcemia. Total proteins and albumin levels were normal as well as her vitamin D, thyroid hormones and other electrolytes were also normal. A neck ultrasound was performed, showing no notable pathologies.

Conclusion and discussion: Here we present a case of primary hyperparathyroidism in a patient of HHT. No definite association between HHT and endocrinal disorder was confirmed before. However, a case report described the occurrence of hypoparathyroidism and HHT (1). Another case of Hashimoto thyroiditis and HHT was reported in 2006 (2).

References: 1) Cesareo et al. (2011). A Rare Case of Hypoparathyroidism Associated to Rendu-Osler-Weber. Acta Endocrinologica January 2011, 7(2):267–272.

2) Sabuncu et al. (2006). Hashimoto Thyroiditis in a Patient With Hereditary Hemorrhagic Telangiectasia. The Endocrinologist, 16(1): 2–4.