(20.08) Adult Albright Hereditary Osteodystrophy: The chronic Complexities of the Clinical Presentation, Genetic Features, and Management Exhaustion.

Introduction : Albright Hereditary Osteodystrophy is a genetic disorder characterized by symptoms affecting bones and endocrine glands. This case reflect the different clinical manifestations with a focus on the challenges of hypocalcemia and the multidisciplinary management needed. Shows the clinical manifestations in an adult patient with focus on the importance of closely follow up by endocrinology service, to orient patients and family members on this chronic condition and to describe to clinicians the long-term challenges.

Case(s) Description : Case of a 23 y/o male with medical history of Hypoparathyroidism, Hypothyroidism, Obesity Class 3 consulted to endocrinology service due to severe hypocalcemia. Initially bilateral lower extremities spasm, progressing to a generalized seizure. Vital signs normal except BMI: 49.9. Physical examination round face,short neck, acanthosis nigricans, acrochordons, obese, short stature, short fingers. Severe hypocalcemia 4.9 mg/dL, low ionized calcium, hypomagnesemia, Vitamin D insufficiency, elevated intact PTH 355 pg/mL. Non-contrast CT scan with basal ganglia calcifications consistent with Fahr’s disease. Management of hypocalcemia through calcium IV drip and vitamin D supplementation. After careful physical, clinical, and biochemical evaluation type IA Albright Hereditary Osteodystrophy was considered as diagnosis. To our knowledge this most commonly presents early in life and at that time diagnosis is made. Patient was unaware of diagnosis. This syndrome may present with intellectual disability not understanding the severity and the need of daily treatment. He was using multiple dosages of calcium for years and stop using it as was interfering with daily activities. Chronic hypoparathyroidism or as in this case, PTH resistance, is associated with a high pill burden affecting it daily compliance. He was not visiting an endocrinologist as did not know the importance of a multidisciplinary approach.

Discussion :

Albright Hereditary Osteodystrophy caused by mutations in GNAS gene responsible for instructions on making proteins with a role in regulation of hormones and signaling pathways. The link between this syndrome and hypocalcemia is related to resistance to parathyroid hormone (PTH), important regulating calcium levels in the blood. In individuals with the syndrome there is a resistance to the effects of PTH, leading to impaired calcium regulation among other hormone resistant as Hypothyroidism.This case shows the importance of a clinical evaluation in patients presenting with severe hypocalcemia and described clinical features. It highlights the challenges by hypocalcemia and advocates for a multidisciplinary approach to optimize patient care. Explain to the patient the genetics of this autosomal dominant inherited condition it is imperative for the patient to made educated decision when looking for offspring. Knowing the clinical presentations since initial presentation is essential for tailored management along with an intensive course of multidisciplinary medical treatment to achieve a long-term outcome in patients with this syndrome.