DISEASE SCANNER

Global Incurable Diseases Tracker

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Endocrine Disorder

Severe Insulin Resistance Syndrome

HIGH SEVERITY

A group of rare disorders causing extreme insulin resistance. Includes type A insulin resistance (INSR mutations), type B (autoantibodies), leprechaunism, and lipodystrophies. Causes severe metabolic abnormalities despite high insulin levels.

Global Affected

50.0K

Countries

15

Symptoms

Severe hyperinsulinemia
Acanthosis nigricans
Hyperandrogenism (females)
Diabetes
Failure to thrive (severe forms)
Lipodystrophy (some types)
Hepatomegaly

Treatment Options

Hormone replacement
Hormone suppression
Medications
Surgery
Radiation therapy
Lifestyle modifications
Regular monitoring

Risk Factors

1Family history
2Autoimmune disease
3Age
4Obesity
5Genetic mutations
6Iodine deficiency/excess
7Medications
8Pituitary tumors

Diagnostic Methods

  • 1Hormone level testing
  • 2Imaging (CT, MRI, ultrasound)
  • 3Stimulation/suppression tests
  • 4Autoantibody testing
  • 5Genetic testing

Prognosis

Generally excellent with proper hormone replacement or suppression. Lifelong monitoring typically required. Complications preventable with good control.

Prevention

  • Screening for at-risk individuals
  • Iodine sufficiency
  • Avoidance of trigger medications
  • Genetic counseling
  • Lifestyle modifications

Research Status

Metreleptin for lipodystrophy. Immunosuppressants for type B. Metformin, TZDs, and high-dose insulin. U-500 insulin. Experimental therapies including IGF-1. Management of metabolic complications.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChina

Sources

  • https://www.endocrine.org
  • https://www.ncbi.nlm.nih.gov/books/NBK278949
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.