Insulin-resistance type B

Title

Categories:

Congenital and Genetic Diseases; Endocrine Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 2298

Disease definition

Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome; see these terms) and occurs in the context of immune dysfunction.

Epidemiology

It is a rare disorder that affects middle-aged adults, predominantly females.

Clinical description

It may occur in the context of a well-characterized autoimmune disease (systemic lupus erythematosus; see this term), or suggest an immune disease (such as an elevated sedimentation rate, proteinuria, high levels of antinuclear antibodies or decreased levels of certain complement factors). The onset of the disease is usually marked with a rapidly progressive nonketotic and severely insulin-resistant diabetes, along with acanthosis nigricans (the typical skin lesion associated with insulin resistance) and hirsutism. Paradoxal hypoglycemia is sometimes observed and may be extremely severe.

Etiology

The syndrome is associated with the presence of serum auto-antibodies against the insulin receptor.

Diagnostic methods

The diagnosis is based on the clinical picture, results of laboratory tests, and on detection of anti-insulin receptor auto-antibodies in the serum.

Management and treatment

Treatment of the underlying autoimmune disease consists of non-specific immunosuppressors associated with very high doses of insulin to try to control the hyperglycemia.

Prognosis

Prognosis depends on the underlying autoimmune disease, but it is unfavorable in cases with hypoglycemia (leading to death in 50% of cases).

Visit the Orphanet disease page for more resources.

Last updated: 1/22/2009

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal circulating fatty-acid concentration		0004359
Abnormal oral glucose tolerance		0004924
Acanthosis nigricans	Darkened and thickened skin	0000956
Elevated erythrocyte sedimentation rate	High ESR	0003565
Fasting hyperinsulinemia	High blood insulin levels while fasting	0008283
Hypotriglyceridemia	Low blood triglyceride levels	0012153
Postprandial hyperglycemia		0011998
Systemic lupus erythematosus		0002725
Weight loss		0001824
30%-79% of people have these symptoms
Abnormality of circulating leptin level		0004361
Antinuclear antibody positivity		0003493
Decreased serum complement factor B		0005416
Enlarged polycystic ovaries	Enlarged ovaries with cysts	0008675
Fatigue	Tired Tiredness [ more ]	0012378
Glycosuria	Glucose in urine	0003076
Hirsutism	Excessive hairiness	0001007
Hypoalbuminemia	Low blood albumin	0003073
Increased serum testosterone level		0030088
Insulin-resistant diabetes mellitus	Insulin resistant diabetes Insulin-resistant diabetes [ more ]	0000831
Leukopenia	Decreased blood leukocyte number Low white blood cell count [ more ]	0001882
Nephritis	Kidney inflammation	0000123
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Type II diabetes mellitus	Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ]	0005978
5%-29% of people have these symptoms
Abnormal salivary gland morphology	Abnormality of the salivary glands	0010286
Alopecia	Hair loss	0001596
Biliary cirrhosis		0002613
Diabetic ketoacidosis		0001953
Fasting hypoglycemia	Low blood sugar when fasting	0003162
Hodgkin lymphoma		0012189
Hyperinsulinemic hypoglycemia		0000825
Increased body weight		0004324
Increased IgA level		0003261
Increased IgG level		0003237
Multiple myeloma		0006775
Osteoarthritis	Degenerative joint disease	0002758
Pneumonia		0002090
Skin rash		0000988
Thrombocytopenia	Low platelet count	0001873

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Last updated: 3/1/2019

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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