Gaucher disease

Overview

Gaucher disease lets a fatty substance build up in the spleen, liver, and bones.

Enzyme therapy greatly improves symptoms.

Symptoms

Common signs:

• Enlarged spleen

Less common

• Bone pain
• Bruising
• Tiredness
• Nosebleeds

Look up a symptom: Bone pain that's constant or worse at night, or a lump on a bone or deep in a muscle · Bruising easily or bleeding for a long time · Fatigue

When to get medical care

Causes

Genes.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.

Who is more likely to get it

• Ashkenazi Jewish heritage

Possible complications

• Broken bones: Weak bones break easily
• Parkinson's disease: Higher risk

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Enzyme test:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Get infusions on schedule

Prevention

To lower your risk or prevent problems:

• Carrier testing

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a medical geneticist (genetics doctor).

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Ashkenazi Jewish families: More common.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Treatment helps most people live normal lives.

Enzyme treatment works well.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?
• Should my family be tested?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Gaucher disease