Autoimmune Lymphoproliferative Syndrome (ALPS)

Autoimmune lymphoproliferative syndrome (ALPS) is a condition that makes your body produce too many immune cells. You’ll have far more lymphocytes (a type of white blood cell) than you need. These extra cells also won’t break down when they should.

Normally, your body uses lymphocytes to protect you and keep you healthy. When your immune system detects dangerous cells, it creates and sends lymphocytes to attack them. But if you have ALPS, your body can’t keep track of making the right amount. It will constantly make too many.

Without targets to attack, the extra lymphocytes damage your body instead of protecting it. Having ALPS can lead to damage in organs and cells throughout your body, including your:

• Lymph nodes
• Spleen
• Blood cells
• Kidneys
• Liver
• Nerves
• Blood vessels
• Eyes

Autoimmune lymphoproliferative syndrome symptoms

ALPS symptoms vary. Which ones you have will depend on where the extra white blood cells damage your body. Some of the most common symptoms include:

• Swollen lymph nodes
• An enlarged spleen
• An enlarged liver
• Skin rashes or hives
• Nerve pain
• Uveitis
• Unusual bleeding
• Bruising easier than usual
• Unexpected weight loss

Symptoms usually start when you’re a child or teen. Swollen lymph nodes and spleen enlargement are often the first signs. But you can develop new or different symptoms throughout your life.

Autoimmune lymphoproliferative syndrome causes

A genetic variation causes ALPS. In most cases, it’s in the FAS gene.

The FAS gene helps your body make a special protein that tells cells to break down at the right time. Usually, lymphocytes automatically die off after they’re done fighting harmful cells. If you have a changed FAS gene, your cells won’t have that protein. This means there’s no built-in self-destruct code.

Lymphocytes will last longer than they should. And your body won’t know when to stop making new ones. That leads to the buildup. The lymphocytes won’t know to stop attacking, but won’t have anything helpful to attack. So, they turn on your body and start damaging you.

The genetic change that causes ALPS follows an autosomal dominant pattern. That means, if one of your biological parents has the altered FAS gene, there’s a 50/50 chance you’ll inherit it from them.

Complications of autoimmune lymphoproliferative syndrome

Having ALPS severely increases your risk of lymphoma. This is cancer in your lymph system. You’ll be 150 times more likely than average to get Hodgkin lymphoma. And 14 times more likely to have non-Hodgkin lymphoma.

If you have ALPS, you may develop an autoimmune disease at some point. This comes from your immune system being overactive for too long. You might get:

• Autoimmune hemolytic anemia
• Autoimmune neutropenia
• Immune thrombocytopenia
• Vasculitis
• Autoimmune hypersplenism

How doctors diagnose autoimmune lymphoproliferative syndrome

A healthcare provider will diagnose autoimmune lymphoproliferative syndrome by discussing the symptoms and running some tests. Tell your provider which symptoms you’ve experienced, when they started and how quickly they’ve changed. Your provider will give you a physical exam. They’ll check for swelling, especially in your lymph nodes and spleen.

Your provider will use blood tests. They’ll check for extra white blood cells in your blood. If you have ALPS, your blood will have unusually high amounts of lymphocytes. Your provider may check for high double-negative T cells. T cells are a type of lymphocyte. Normally, you have a very small number of double-negative T cells in your blood. But people with ALPS usually have noticeably higher amounts.

There’s no test that says for sure you have ALPS. But having extra lymphocytes in your blood and an enlarged spleen and/or lymph nodes for longer than six months is usually a big clue. If you have both, there’s a good chance you have autoimmune lymphoproliferation syndrome.

Tell your provider if you know your biological parents or family members have ALPS. This can help them diagnose it.

How is autoimmune lymphoproliferative syndrome treated?

The goals of treating ALPS are preventing organ damage and managing the symptoms. Your healthcare provider will monitor your white blood cell count and keep an eye on swelling in your spleen and lymph nodes.

Your provider may suggest treatments to help slow down your immune system. You might need:

• Immunosuppressants: These medications reduce your immune system’s activity.
• Corticosteroids: These are prescription anti-inflammatory medications. They can also act like immunosuppressants.

These medications don’t stop your body from making too many lymphocytes. They can only manage symptoms. So, you may not be able to take them all the time. Your provider will probably only suggest them when you’re experiencing a symptom flare-up.

Your provider may recommend other treatments to manage specific symptoms or autoimmune diseases you develop. They’ll help you find the right treatments.

A stem cell transplant is the only cure for ALPS. This replaces your natural immune system with cells from a donor. But this can have lots of risks and side effects. That’s why your provider will usually only recommend one if you have severe ALPS that’s causing dangerous complications.

What can I expect if I have this condition?

There’s not one outlook that applies to everyone with ALPS. It affects everyone differently. Some people only ever have minor symptoms that need to be managed occasionally. Others have severe symptoms and develop dangerous complications. Your healthcare provider will help you understand what to expect in your unique situation.

If you have ALPS, there’s a 50% chance you can pass it to your biological children. Talk to your healthcare provider about genetic counseling if you’re worried about this.

You’ll need regular check-ups and blood tests to monitor changes in the condition. There’s no test to screen for lymphoma, but tell your provider right away if you notice any symptoms like:

• New swelling in your lymph nodes
• Fatigue
• Severe night sweats
• Shortness of breath
• Quickly losing weight when you’re not trying to