Sickle Cell Disease Diagnosis, Symptoms, and Complications
Sickle cell disease is an inherited blood disorder usually diagnosed at birth. Most people with the disease begin to show symptoms by 4 months of age or shortly thereafter.
Adult sickle cell disease can cause the same signs and symptoms as in children.
Early diagnosis is crucial, so doctors can take measures to ease some of the devastating effects of sickle cell anemia. Preventive steps can significantly increase life expectancy and decrease the risk of infection or other complications of sickle cell disease.
At UPMC's Adult Sickle Cell Disease Program, we're here to help you take those steps to manage your adult sickle cell disease.
Signs and Symptoms of Adult Sickle Cell Disease
Although the signs and symptoms of sickle cell disease vary from person to person, most people experience anemia-like symptoms and pain.
Anemia symptoms associated with adult sickle cell disease
Common symptoms include:
- Fatigue (feeling weak and unusually tired)
- Dizziness
- Headaches
- Cold hands and feet
- Jaundice (yellow tinted skin or whites of eyes)
- Unusually pale skin and mucous membranes (tissue inside the nose, mouth, and elsewhere inside the body)
Pain symptoms associated with sickle cell anemia
Individuals with sickle cell anemia often experience sudden, intense pain throughout the body. These vaso-occlusive crises occur when sickle cells block the proper flow of blood to the extremities (i.e. arms and legs) and organs.
These crises can affect any area of the body, but often involve the:
- Lungs
- Abdomen
- Bones
- Joints
Although the pain is most often acute — lasting for a relatively short time, such as hours to several days — some people experience chronic pain. Chronic pain can endure for weeks or months.
Coping with this pain may cause mental exhaustion and diminish a person’s ability to engage in normal daily activities.
Repeated bouts of sickle cell crises can permanently damage organs. This damage occurs more frequently in adults than in children.
Some things that can contribute to a sickle cell crisis include:
- Dehydration
- Infection
- Menstruation
- Sudden changes in temperature
While you can’t control all factors that may cause a sickle cell crisis, you can take preventive measures to reduce the risk of sickle cell complications.
Common Complications of Adult Sickle Cell Disease
Some adults with sickle cell disease may develop complications and experience associated symptoms.
Pulmonary hypertension
Sickle cells hemolyze inside blood vessels in the lungs, causing them to narrow and making it difficult for the heart to pump blood through the lung system. This causes blood pressure to rise in the lungs' blood vessels, resulting in pulmonary hypertension (PH). Primary symptoms include fatigue and shortness of breath. At UPMC, our adult sickle cell disease patients receive the latest PH treatments available through our Comprehensive Pulmonary Hypertension Program.
Acute chest syndrome
This life-threatening condition is a form of lung injury linked directly to sickle cell anemia. Causes of acute chest syndrome include blockage of the blood vessels in the lungs by sickle cells or bone marrow fat, or an infection like pneumonia.
Multiple episodes may result in permanent lung damage. Treatment often requires emergency transfusion of normal blood.
Signs and symptoms may include:
- Chest pain
- Shortness of breath
- Fever
- Abnormal chest x-ray
Stroke
People with sickle cell disease are at risk for two types of stroke.
The first, occurring more frequently in children than in adults, happens when a blood vessel in the brain becomes damaged or blocked with sickle cells. The other occurs when a blood vessel in the brain ruptures.
Both types of stroke can result in permanent brain damage, paralysis, or death.
Priapism
This painful condition occurs when sickle cells obstruct blood flow out of the erect penis.
Untreated, priapism can damage penile tissue and lead to permanent impotence.
Leg ulcers
These ulcers occur on the lower third of the leg around the ankle bones. An individual may develop one or several ulcers; they cause severe pain and often take months to heal.
Experts don’t have a clear understanding why sickle cell ulcers develop, but they happen more in people with hemolytic anemia and pulmonary hypertension.
Splenic crisis
Damage to the spleen begins at 6 months of age. A splenic crisis occurs when the spleen becomes blocked with sickle cells. The spleen may enlarge and cause intense abdominal pain.
Depending on the type of splenic crisis, either the spleen swells full of blood or the blocked blood flow causes damage and death to parts of the spleen. Loss of splenic function increases the risk of serious blood infections.
Multiple organ failure
While multiple organ failure rarely occurs in adults with properly managed sickle cell disease, it is a serious complication. It can occur during an unusually intense and severe pain crisis.
Common symptoms include:
Tests for Diagnosing and Monitoring for Sickle Cell Disease
At the UPMC Adult Sickle Cell Disease Program, we will obtain a complete medical history and conduct a physical exam. We may also discuss your family history and review newborn screening results.
Tests may include:
- Sickle cell test (sickledex or Hgb S test) — Determines if you have the abnormal hemoglobin that causes sickle cell trait and sickle cell disease.
- Hemoglobinopathy test — Checks for hemoglobin abnormalities (many states include this in routine newborn blood screening tests).
- Hemoglobin electrophoresis — Determines the specific type of abnormal hemoglobin present and at what levels it exists in the blood stream. Abnormal test results may indicate sickle cell disease or another hemoglobinopathy.
- Echocardiogram (Doppler ultrasound of the heart) — Screens for pulmonary hypertension.
Learn More About Sickle Cell Disease Symptoms and Tests
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Adult sickle cell disease requires ongoing monitoring and treatment, even when you feel healthy. Contact the UPMC Adult Sickle Cell Disease Program at 412-692-4724 to schedule an appointment.
