PSAT224 Endocrine Manifestations in Diamond Blackfan Anemia
Authors: Shah Anvay , Sinnott Bridget 
Published: November 2022

Introduction

Diamond Blackfan anemia (DBA) is a form of pure red cell aplasia characterized by erythroid hypoplasia, congenital deformities, and increased risk of malignancy. It is typically diagnosed in first year of life. Treatments include chronic corticosteroids and frequent blood transfusions, which can result in significant endocrine complications.

Case Presentation

A 39 year-old African American male with DBA presented to the hospital with decompensated heart failure secondary to hemosiderosis, with ferritin level of 14,054 ng/ml (22-322). He complained of muscle cramps and weakness but denied paresthesias. He was diagnosed with DBA at 1 month of age, which required blood transfusions every 2 weeks and dual chelation therapy. He had previously tried corticosteroids for 6 months with poor response.

Endocrine service was consulted to manage his multiple endocrine issues. He was diagnosed with primary hypothyroidism at age 1 and was on levothyroxine 175 mcg daily. At age 19, he was diagnosed with hypogonadotropic hypogonadism and was on testosterone cypionate 200 mg weekly. He received growth hormone injections from age 19 to 21 due to his delayed bone age and short stature. At age 23, he was diagnosed with adrenal insufficiency due to pituitary iron overload and was on prednisone 2.5mg daily.

Physical exam was remarkable for short stature with height 152 cm, weight 46.4 kg, BMI 21.9 kg/m2, blood pressure 90/54 mm Hg and heart rate 93 bpm. He had positive Chvostek sign, pedal edema, jugular venous distension and bilateral lung crackles. There were no skeletal deformities, no hyper-pigmented skin, no surgical neck scars, negative Trousseau sign, and normal deep tendon reflexes. His lab work up was remarkable for TSH 80 mcIU/ml (0.4-4.7) and HbA1c in the prediabetes range. He had ionized calcium 3.1 mg/dl (4.5-5.2), phosphorus 6.9 mg/dl (2.4-5.1), PTH 27 pg/ml (11.1-79.5), eGFR &gt;90 ml/min/m2 (&gt;90), and 25-hydroxy vitamin 19.7 ng/ml (25-80), therefore he was newly diagnosed with primary hypoparathyroidism, most likely attributed to iron infiltration of the parathyroid glands.

He was started on calcium carbonate 500 mg BID, calcitriol 0.5 mcg daily, sevelamer 2400 mg TID and ergocalciferol 50,000 IU/week with variable compliance. He was subsequently approved for teriparatide, as a substitute for Natpara (parathyroid hormone). Unfortunately, he expired before he could receive teriparatide.

Discussion

Endocrine complications in DBA are common with a prevalence in the American DBA registry of 53% having one or more endocrinopathy. These complications are related to long-term corticosteroid treatment or iron related deposition from transfusions. Our patient had transfusion related endocrinopathies including newly diagnosed primary hypoparathyroidism and history of hypopituitarism with resultant hypogonadism, adrenal insufficiency and growth hormone deficiency. Given the frequency of endocrine complications associated with DBA treatment, it is important to screen for these conditions starting in childhood.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.