Pseudohypoparathyroidism Ia With Evans Syndrome

Abstract

Pseudohypoparathyroidism Ia (Albright hereditary osteodystrophy or Albright syndrome) is a rare disease, caused by the resistance to the action of the parathyroid hormone in target tissues, such as the bone, kidney, and intestine, with consequent hypocalcemia and hyperphosphatemia and increased levels of parathyroid hormone. The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation. We report on a child with a classic form of pseudohypoparathyroidism and associated Albright syndrome who developed Evans syndrome (ie, the cooccurrence of severe autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura). To our knowledge, no cases of Evans syndrome have been observed associated with pseudohypoparathyroidism 1a.

Severe Menorrhagia and Thrombocytopenia in a Patient with Pseudohypoparathyroidism

“…For example, in 2008, Pavone et al published a case report outlining a 3-year-old with PHPIa diagnosed as an infant, who later developed Evans Syndrome (disorder characterized by having both autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura). He presented with anemia, thrombocytopenia and splenomegaly but, unlike our patient, did not have any acute bleeding [7]. After his bone marrow biopsy was found to be normal, he was treated with IVIG, cortisone and clarithromycin with subsequent resolution of anemia and thrombocytopenia.…”

“…PHPIa is a rare diagnosis associated with end organ resistance to parathyroid hormone and potentially other hormones (thyroid stimulating hormone, growth hormone releasing hormone, gonadotropins), as well as physical features of Albright Hereditary Osteodystrophy (brachydactyly, subcutaneous ossifications, round facies, obesity, short stature, intellectual disability) [1,2,4,6,7]. However, the diagnosis is not widely associated with bleeding or thrombocytopenia.…”