Abstract
Evolocumab, a proprotein convertase subtilisin/kexin type 9 inhibitor (PCSK9i) is a novel low-density lipoprotein (LDL) lowering agent that has been recently approved by the FDA to reduce the risk of myocardial infarction, stroke, and coronary revascularization in individuals with established atherosclerotic cardiovascular disease, alone or in combination with other lipid-lowering agents, and for treatment of patients with primary hyperlipidemia including familial hypercholesterolemia
Highlights
A 15-year-old female with a history of hypothyroidism presented with severe anemia and thrombocytopenia in the setting of prolonged menses
Pseudohypoparathyroidism Type 1a (PHP) is a genetic disorder characterized by an inactivating mutation of the alpha subunit of a GNAS encoded G-protein, resulting in end organ resistance to parathyroid hormone (PTH)
We present a case of 15-year-old female with a history of hypothyroidism and easy bruising who presented with severe anemia and thrombocytopenia in the setting of prolonged menses
Summary
There was no family history of bleeding disorders, endocrinopathies or any other genetic predispositions Her physical exam was notable for pallor, round facies, shortened 4th metacarpals and metatarsals (Figures 1 and 2), a subcutaneous calcification of her right thigh and scattered bruising over all extremities and chest. Considering her response to the IVIG and her history of positive anti-platelet antibodies she was diagnosed with immune thrombocytopenia On her first follow up in hematology clinic two months after initial presentation, she was asymptomatic but once again had a low platelet count (19 K/uL). Further bloodwork including ANA and immunoglobulin levels resulted with normal values Due to her atypical presentation and potential need for steroids or immunosuppressants, a bone marrow sample was taken with normal cellularity and platelet precursors without evidence of leukemia, myelodysplastic syndrome or bone marrow failure. She has maintained her platelet count > 50 K/uL and has not had further bleeding symptoms
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