Schimke immunoosseous dysplasia and management considerations for vascular risks

Am J Med Genet A. 2019 Jul;179(7):1246-1252. doi: 10.1002/ajmg.a.61148. Epub 2019 Apr 30.

Abstract

Schimke immunoosseous dysplasia (SIOD) is a multisystemic condition characterized by early arteriosclerosis and progressive renal insufficiency, among other features. Many SIOD patients have severe, migraine-like headaches, transient neurologic attacks, or cerebral ischemic events. Cerebral events could be exacerbated or precipitated by hypertension, and it is unclear how these are related to arteriosclerotic changes as dyslipidemia is also a feature of SIOD. The correlation between hypercholesterolemia and cardiovascular risk in SIOD is unclear. Also, the etiology and management of headaches is not well characterized. Here we report our clinical observations in the management of SIOD in a patient who was diagnosed in school age despite early signs and symptoms. We describe biallelic variants, including a previously unreported c.1931G>A (p.Arg644Gln) variant in SMARCAL1. We specifically investigated whether migraine-like headaches and progressive nephropathy may be related to blood pressure dysregulation. We found a correlation between tighter blood pressure regulation using ambulatory blood pressure monitoring and a subjective decrease in headache symptoms. We discuss blood pressure medication management in SIOD. We also characterize dyslipidemia relative to atherosclerosis risks and provide new management strategies to consider for optimizing care.

Keywords: SMARCAL1; Schimke; atherosclerosis; immunoosseus; lentigines; skeletal dysplasia; stroke.

Publication types

  • Case Reports

MeSH terms

  • Anticholesteremic Agents / therapeutic use
  • Antihypertensive Agents / therapeutic use
  • Arteriosclerosis / complications
  • Arteriosclerosis / diagnosis
  • Arteriosclerosis / drug therapy*
  • Arteriosclerosis / genetics
  • Atorvastatin / therapeutic use
  • Benzazepines / therapeutic use
  • Blood Pressure
  • Blood Pressure Monitoring, Ambulatory
  • Child
  • DNA Helicases / genetics*
  • Disease Management
  • Dyslipidemias / complications
  • Dyslipidemias / diagnosis
  • Dyslipidemias / drug therapy*
  • Dyslipidemias / genetics
  • Female
  • Gene Expression
  • Headache / complications
  • Headache / diagnosis
  • Headache / drug therapy*
  • Headache / genetics
  • Humans
  • Hypertension / complications
  • Hypertension / diagnosis
  • Hypertension / drug therapy*
  • Hypertension / genetics
  • Mutation*
  • Nephrotic Syndrome / complications
  • Nephrotic Syndrome / diagnosis
  • Nephrotic Syndrome / drug therapy*
  • Nephrotic Syndrome / genetics
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / drug therapy*
  • Osteochondrodysplasias / genetics
  • Primary Immunodeficiency Diseases / complications
  • Primary Immunodeficiency Diseases / diagnosis
  • Primary Immunodeficiency Diseases / drug therapy*
  • Primary Immunodeficiency Diseases / genetics
  • Propranolol / therapeutic use
  • Pulmonary Embolism / complications
  • Pulmonary Embolism / diagnosis
  • Pulmonary Embolism / drug therapy*
  • Pulmonary Embolism / genetics

Substances

  • Anticholesteremic Agents
  • Antihypertensive Agents
  • Benzazepines
  • Propranolol
  • Atorvastatin
  • SMARCAL1 protein, human
  • DNA Helicases
  • benazepril

Supplementary concepts

  • Schimke immunoosseous dysplasia