Mastocytosis (Urticaria Pigmentosa): Symptoms, Causes, Diagnosis & Treatment

December 3, 2018

Mastocytosis is a condition that occurs when mast cells accumulate in skin and/or internal organs such as the liver, spleen, bone marrow, and small intestines. The signs and symptoms vary based on which part(s) of the body are affected.

There are two main forms of mastocytosis: cutaneous and systemic. Cutaneous mastocytosis only affects the skin and is usually diagnosed in children. Systemic mastocytosis affects more than one part of the body and is usually diagnosed in adults. It is usually caused by changes (mutations) in the KIT gene. Most cases are caused by somatic mutations which are not inherited or passed on to the next generation; however, it can rarely affect more than one family member.

Treatment is based on the signs and symptoms present in each person.

Of new patients visiting dermatology clinics, 0.1-0.8% have some form of mastocytosis. Maculopapular cutaneous mastocytosis is the most common subgroup found in children, at approximately 47-75% of cases. There are approximately 17-51% of mastocytoma and 1-5% of diffuse cutaneous mastocytoma in pediatric cases as well. Mastocytosis affects males and females equally (no known sex predilection). Most patients with mastocytosis are children; 75% of cases occur during infancy or early childhood and usually resolve by puberty. Mastocytosis incidence peaks again in patients aged 30-49 years.

How does Mastocytosis affect your body?

Mast cells are normal cells in the body that mediate the body’s allergic and inflammatory responses. But people with mast cell disease have too many mast cells and they’re abnormal. Too many abnormal mast cells can cause allergic reactions and inflammation. Different subtypes of the disease differ in the how serious these responses are.

What are the Causes of Mastocytosis?

The cause or causes of mastocytosis aren’t fully known, but there’s thought to be an association with a change in genes (genetic mutation) known as the KIT mutation. The KIT mutation makes the mast cells more sensitive to the effects of a signalling protein called stem cell factor (SCF). SCF plays an important role in stimulating the production and survival of certain cells, such as blood cells and mast cells, inside the bone marrow.

Know more: Tear of miniscus Causes

What are the Risk Factors of Mastocytosis?

Common risk factors include :

Age – Most often, cutaneous mastocytosis begins during infancy and early childhood. The risk of developing systemic mastocytosis increases with age.
C-kit receptor mutation – The c-kit receptor is a type of receptor tyrosine kinase, which is a protein on the surface of some cells that binds to a substance that causes them to grow. Changed or mutated forms of the c-kit gene may cause some types of mastocytosis, including systemic mastocytosis.

Know more: Myositis Risk Factors

What are the symptoms of Mastocytosis?

Initial signs of this disease may include “spots” that look like freckles on the skin of a person’s inner thighs or stomach. These spots are called urticaria pigmentosa and can transform into hives and itch if stroked or irritated, or if the skin is exposed to sudden changes in temperature such as a hot shower.

Other common symptoms include :

Anaphylaxis
Shortness of breath
Low blood pressure
Hives and swelling
Itching
Nausea and vomiting
Diarrhea
Fainting
Headache
Uterine cramps/bleeding
Flushing
Musculoskeletal pain

How is Mastocytosis diagnosed?

A physical examination of the skin – Your skin specialist (dermatologist) may rub the affected areas of skin to see if they become red, inflamed and itchy. This is known as Darier’s sign.
Biopsy – It’s usually possible to confirm a diagnosis by carrying out a biopsy, where a small skin sample is taken and checked for mast cells.
Blood tests – Including a full blood count (FBC) and measuring blood tryptase levels.
Ultrasound scan – This is done to look for enlargement of the liver and/or spleen.
DEXA scan – To measure bone density.
Bone marrow biopsy test – Where a local anaesthetic is used and a long needle is inserted through the skin into the one underneath, usually in the pelvis. A diagnosis of systemic mastocytosis is usually made by finding typical changes on a bone marrow biopsy.

How to prevent & control Mastocytosis?

Because Mastocytosis is a diseases related to gene mutation, it is not possible to prevent it.

Treatment of Mastocytosis Allopathic Treatment –

Steroid cream – Mild to moderate cases of cutaneous mastocytosis can be treated with a very strong steroid cream (topical corticosteroids) for a limited length of time, usually up to six weeks. Steroid cream reduces the number of mast cells that can release histamine and trigger inflammation inside the skin.
Antihistamines – Antihistamines can also be used to treat symptoms of cutaneous or indolent mastocytosis, such as itchiness and skin redness. Antihistamines are a type of medication that block the effects of histamine. They’re widely used to treat allergic conditions.
Sodium cromoglicate – Sodium cromoglicate is a medication used to treat conjunctivitis, asthma and food allergy. It may also be used to treat gut symptoms of mastocytosis, but isn’t absorbed well from the bowel. Sodium cromoglicate is a mast cell stabiliser, which means it reduces the amount of chemicals released by the mast cells. This helps relieve symptoms such as diarrhoea.
PUVA – More severe symptoms of cutaneous mastocytosis, such as severe itchy skin, may require a type of treatment called psoralen plus ultraviolet A (PUVA). PUVA involves taking a medication called psoralen, which makes the skin more sensitive to the effects of ultraviolet light. The skin is then exposed to a wavelength of light called ultraviolet A (UVA), which helps reduce lesions in the skin. You can only have a limited number of PUVA sessions as using the treatment too many times – around 150 sessions – may increase your risk of developing skin cancer over your lifetime.
Steroid tablets – If symptoms such as itchiness are particularly severe, corticosteroid tablets (oral corticosteroids) may be prescribed on a short-term basis. However, this is rare. A short course of corticosteroid tablets may be recommended if you have bone pain caused by mastocytosis, or a severe allergic reaction (anaphylaxis).
Bisphosphonates and calcium supplements – If you have weakened bones (osteoporosis) resulting from abnormal mast cell activity in your bones, you’ll be given a type of medication called bisphosphonates. Bisphosphonates slow the process of bone breakdown while allowing production of new bone to continue as normal, which improves your bone density. You may also be given calcium supplements, as calcium helps strengthen bones.
H2-receptor antagonists – If you have stomach pain caused by a stomach ulcer (peptic ulcer), you’ll be given a medication called an H2-receptor antagonist. This blocks the effects of histamine in the stomach – histamine stimulates the production of stomach acid, which damages the stomach lining.
Interferon alpha – Originally designed to treat cancer, interferon alpha has proved effective in treating some cases of aggressive mastocytosis. It’s not known exactly why this is, but it appears the medication reduces the production of mast cells inside the bone marrow. Interferon alpha is given by injection. You may have flu-like symptoms, such as chills, a high temperature and joint pain, when you start taking interferon alpha. However, your symptoms should improve over time as your body gets used to the medicine.
Imatinib – Imatinib is an alternative medication to interferon alpha. It’s taken as a tablet and blocks the effects of an enzyme called tyrosine kinase, which helps stimulate production of mast cells.
Nilotinib and dasatinib – Nilotinib or dasatinib may be recommended if you don’t respond to treatment with imatinib. They work in much the same way, blocking the effects of tyrosine kinase.
Cladribine – Cladribine was originally designed to treat cancer of the white blood cells (leukaemia), but it’s also been shown to be useful in treating aggressive systematic mastocytosis. However, cladribine hasn’t been approved (licensed) to treat mastocytosis. Cladribine suppresses the activity of your immune system. It’s given by infusion, which means it’s slowly released into your body through a drip in your arm over the course of two hours.

Treatment of Mastocytosis Homeopathic Treatment –

Common medications include Natrum muriaticum, Sulphur, Thuja occidentalis, Silica, Apis melifica, Arsenic iodum, etc.

Mastocytosis – Lifestyle Tips

Adopt a low histamine diet – Avoid leftover foods, alcohol, cured meats, canned fish, pickled and fermented foods, berries, citrus, nuts, chocolate, dairy, yeast, soy sauce, tomatoes, vinegar, and preservatives.
Avoid temperature extremes, mold, emotional stress, insect bites, chemicals in personal products, medications that liberate histamine of block DAO, sodium benzoate (common food preservative), airborne chemicals, smoke, heavy metals and anesthetics.
Work on your gut health – Good gut health is a cornerstone of overall wellness and will help you get your MCAS under control. Cut back on food that damages the gut or causes inflammation. Take probiotics and a DAO enzyme (generic name Umbrellux DAO).
Stabilize mast cell mediator release – Stabilize mast cell release of histamine with quercetin and vitamin C.
Use H1 and H2 blockers every 12 hours – Try using 5 mg of levocetirizine twice daily and 20 mg of famotidine twice daily.
Block nighttime histamine release – You can block nighttime histamine release and get a better night’s sleep by taking 0.25 -1 mg of ketotifen or zaditen at night.
Treat existing infections – Treat any existing infections to help your body heal and reduce mast cell triggers. Get a thorough examination with your functional medicine doctor and test for any pathogens.
Identify and remove toxins and allergens – When you have MCAS, you’ll do your body a world of good by reducing its toxin burden. You can reduce your exposure to toxins in your daily life through cleaning up your personal care products and opting for natural solutions, using natural household cleaners, and removing mercury fillings.
Take helpful nutrients – Support your health with important nutrients that assist in treatment. Some of these include vitamin B6, alpha lipoic acid, vitamin C, selenium, omega-3s, N-acetylcysteine, methyl-folate, SAMe, and riboflavin.

What are Recommended Exercises for Person with Mastocytosis?

Increase in histamine and tryptase levels after exercise is significantly greater in people with mastocytosis than in healthy individuals. Scientists have found that the post-exercise increase in blood levels of these chemicals was associated with a worsening of mastocytosis-related symptoms. Thus, exercise should be avoided.

Mastocytosis & Pregnancy – Things to know

Throughout pregnancy, sex hormone levels change. Sex hormones, such as estrogen, can directly influence mast cell activation and degranulation. Mastocytosis patients often discontinue antihistamine and antimediator medications during pregnancy due to safety concerns.

In 2011, a study was published examining the effect of pregnancy on mastocytosis patients and of mastocytosis on pregnancy and delivery. During pregnancy, 45% had itching; 40% had flushing; 24% had GI symptoms; and 9% had anaphylaxis. 22% of patients reported worsening symptoms throughout the pregnancy. 2% felt their symptoms were more frequent, while 18% developed new symptoms, and 2% had both new and more frequent symptoms. New symptoms generally appeared in the first trimester, occasionally in the third. Worsening of symptoms occurred in 3/6 women with CM and 7/35 with ISM with skin involvement.

Common Complications Related to Mastocytosis

In children the symptoms of cutaneous mastocytosis usually improve over time, but remain stable in adults.
In many cases the condition gets better on its own by the time a child has reached puberty.
The outlook for systemic mastocytosis can vary, depending on the type you have.
Indolent systemic mastocytosis shouldn’t affect life expectancy, but other types can.
A few people develop a serious blood condition, such as chronic leukaemia, over their lifetime.

Other FAQs about Mastocytosis

Q. Is mastocytosis deadly?

A. While rare, systemic mastocytosis is resistant to treatment with drugs and, when aggressive, can be fatal within four years of diagnosis. No standard therapy currently exists for the disease, which is caused by an overabundance of mast cells in the blood and bone marrow.

Q. Is mastocytosis considered cancer?

A. As the number of mast cells builds up in an organ, the symptoms of the disease may get worse. The risk of systemic mastocytosis becoming cancerous is 7% when the disease begins in childhood and as much as 30% in adults. Mast cell leukemia involves the blood, while mast cell sarcoma involves the body’s soft tissues.

Q. What does a tryptase blood test show?

A. Persistently elevated tryptase levels in a person with symptoms of mast cell activation suggest that the person has mastocytosis. Additional testing is required to confirm this diagnosis. Tryptase levels are thought to correlate with mast cell “burden” (quantity) in those with systemic mastocytosis.