Understanding Autoimmune Lymphoproliferative Syndrome Diagnosis

Autoimmune Lymphoproliferative Syndrome

Autoimmune disease

Autoimmune disease is a complication that significantly alters the quality of life for the person who suffers from the complication. For many individuals, the development of Autoimmune Lymphoproliferative Syndrome occurs later in life, often leading to the development of co-morbid health complications.

While considered a rare autoimmune disease, there are some adults who suffer from a multi-complex condition known as Autoimmune polyglandular syndrome, type II (APS II). With the development of APS II, the complications not only reduce the quality of life but also shorten lifespan. read more 

General autoimmune disease diagnosis

For individuals who suffer from APS II, the diagnosis is often delayed as it is commonly misdiagnosed as a condition such as fibromyalgia.

Because the symptoms of APS II result in extreme fatigue, leaving the individuals who suffer in a bedridden state, many healthcare professionals initially attempt to treat the complication as a case of fibromyalgia or psychological complication.

 Involving Thyroid & Diabetes

If you have been diagnosed with APS II, the goal of your healthcare professional will be to improve your symptoms and to delay the development of life-threatening complications that may shorten your life span.

Treatment will usually begin with hormone therapy that involves thyroid hormone while working to improve blood pressure complications and regularly monitoring electrolyte imbalance.

With thyroid disorder, electrolyte imbalance, and the risk for uncontrolled high blood pressure associated with APS II, these three physiological issues are vital to your health.

Autoimmune Lymphoproliferative Syndrome

Autoimmune Lymphoproliferative Syndrome, (aka, ALPS, Canale-Smith Syndrome, CASP10-Related Autoimmune Lymphoproliferative Syndrome, FAS-Related Autoimmune Lymphoproliferative Syndrome, and FASLG-Related Autoimmune Lymphoproliferative Syndrome) is a rare disease characterized by 3 main conditions:

  • non-malignant lymphoproliferation
  • lifelong autoimmune disease, mostly directed toward blood cells,
  • lifelong increased risk of both Hodgkin and non-Hodgkin lymphoma

As with many rare diseases, the prevalence of this disease in the population is very low. From a practical point of view, a rare disease is one that a regular doctor in a busy practice will see in one patient per year.

Also as with many rare diseases Autoimmune Lymphoproliferative Syndrome is a genetic disease, meaning that a disorder or a problem with a gene is what causes this rare disease.

ALPS has a few variants:

ALPS Ia is the most prevalent type and the best described. The non-malignant lymphoproliferation occurs during the first years of life and disappears without treatment at the beginning of the second decade of life.

In ALPS 0 severe lymphoproliferation occurs before, at, or shortly after birth, and death of the baby occurs at a very early age.

In ALPS Ia-SM is similar to ALPS Ia but somatic mutations occur (SM stands for somatic mutations)

How is ALPS diagnosed?

When suffering from APS II, the adult who suffers will usually experience complications involving the development of an autoimmune disease known as Addison’s disease coupled with either diabetes mellitus or an autoimmune-based thyroid complication.

In many cases, women are stricken with APS II more often than men, with adrenal complications usually the first indication the complication exists.

When any of the following clinical conditions(or a combination of them) exist doctors will start to suspect ALPS:

1)Chronic non-malignant lymphoproliferation including:

  • chronic lymphadenopathy
  • enlargement of the spleen (Splenomegaly)
  • an enlarged liver (Hepatomegaly)
  • Lymphocytic interstitial pneumonia (LIP)

2)Autoimmune disease including anemia due to the destruction of red blood cells.

3)Presence of Lymphoma, both Hodgkin lymphoma and non-Hodgkin lymphoma

4) Usually Skin rashes are present

Is there a cure for ALPS?

Unfortunately, as with many rare diseases, there is no cure for APLS. Only management is possible. Corticosteroids, cyclosporine, tacrolimus, and mycophenolate mofetil can be used to suppress Lymphoproliferation.

Although no curative treatment is available Bone marrow (stem cell) transplantation (BMT) seems to be the the only possible cure for ALPS. Some BMTs have been performed on some patients with clinical phenotypes of

Very much remains to be learned about the ALPS. As with many rare diseases, the diseases are of genetic nature and can only manage adequately to improve somehow the patient’s quality of life.

Non-malignant lymphoproliferative manifestations of ALPS tend to regress with aging but the autoimmunity issue of this disease has no permanent remission with aging.

The risk of developing lymphoma increases with age. So, in the absence of treatments to cure ALPS long-term clinical studies are needed to better understand this rare disease. read how to raise immune 


  • American Autoimmune Related Diseases Association. URL
  • Immune Deficiency Foundation. URL
  • Jeffrey Modell Foundation/National Primary Immunodeficiency Resource Center. URL 

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