Once again the Curbsiders Internal Medicine podcast [Link is to the home page] hits a home run on
#136 Sickle Cell Disease Management & Complications [Link is to the podcast and show notes]
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A complete overview of sickle cell disease with hematologist, Sophie Lanzkron MD of Johns Hopkins.
Dr. Lanzkron recommends that every sickle cell disease patient have a hematologist that is actively following the patient.
Sickle cell anemia (which is just another name for sickle cell disease) is a rare and complex disease with a lot of subtleties. And the emergency medicine specialist or primary care physician should consult with the patient’s hematologist when a patient presents with acute pain, fever, or any other potential sickle cell disease symptoms [which is any acute complaint – my personal view].
When you [the primary care or ED physician] call the hematologist for an acute problem in your sickle cell disease patient, you should have the results of a CBC, absolute neutrophil count, absolute reticulocyte count, lytes, BUN, creatinine, liver enzymes, total protein, albumin, PT, PTT, and u/a [these are just what I guess the hematologist would need-if the podcast had recommendations, I missed it.]
The following are excerpts from Sickle Cell Anemia from emedicine.medscape.com:
Signs and symptoms
Screening for HbS at birth is currently mandatory in the United States. For the first 6 months of life, infants are protected largely by elevated levels of Hb F. Sickle cell disease (SCD) usually manifests early in childhood, the condition becomes evident, as follows:
- Acute and chronic pain: The most common clinical manifestation of SCD is vaso-occlusive crisis; pain crises are the most distinguishing clinical feature of SCD
- Bone pain: Often seen in long bones of extremities primarly due to bone marrow infarction
- Anemia: Universally present, chronic, and hemolytic in nature
- Aplastic crisis: Serious complication due to infection with B19V
- Splenic sequestration: Characterized by the onset of life-threatening anemia with rapid enlargement of the spleen and high reticulocyte count
- Infection: Organisms that pose the greatest danger include encapsulated respiratory bacteria, particularly Streptococcus pneumonia; adult infections are predominately with gram-negative organisms, especially Salmonella
- Growth retardation, delayed sexual maturation, being underweight
- Hand-foot syndrome: This is a dactylitis presenting as bilateral painful and swollen hands and/or feet in children
- Acute chest syndrome: Young children present with chest pain, fever, cough, tachypnea, leukocytosis, and pulmonary infiltrates in the upper lobes; adults are usually afebrile, dyspneic with severe chest pain, with multilobar/lower lobe disease
- Pulmonary hypertension: Increasingly recognized as a serious complication of SCD
- Avascular necrosis of the femoral or humeral head: This is due to vascular occlusion
- CNS involvement: Most severe manifestation is stroke
- Ophthalmologic involvement: Ptosis, retinal vascular changes, proliferative retinitis
- Cardiac involvement: Dilation of both ventricles and the left atrium
- GI involvement: Cholelithiasis is common in children; liver may become involved
- GU involvement: Kidneys lose concentrating capacity; priapism is a well-recognized complication of SCD
- Dermatologic involvement: Leg ulcers are a chronic painful problem
Approximately half the individuals with homozygous HbS disease experience vaso-occlusive crises. The frequency of crises is extremely variable. Some individuals have as many as 6 or more episodes annually, whereas others may have episodes only at great intervals or none at all. Each individual typically has a consistent pattern for crisis frequency. Triggers of vaso-occlusive crisis include the following:
Many individuals with HbSS experience chronic low-level pain, mainly in bones and joints. Intermittent vaso-occlusive crises may be superimposed, or chronic low-level pain may be the only expression of the disease.
See Presentation for more detail.
Management
The goals of treatment in SCD are symptom control and management of disease complications. Treatment strategies include the following 7 goals:
Additional Resources [from the podcast]
- Clinical Outcomes Associated With Sickle Cell Trait: A Systematic Review
(Naik et al. Ann Intern Med. 2018) - 2014 Guidelines for Management of Sickle Cell Disease (Yawn et al. JAMA 2014.)
- Burden of influenza-related hospitalizations among children with sickle cell disease.
(Bundy et al. Pediatrics 2010). - MSH Trial – Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. (Charache et al. NEJM 1995)
- LaSHS Trial 17 year follow-up – The effect of prolonged administration of hydroxyurea on morbidity and mortality in adult patients with sickle cell syndromes (Voskaridou et al. Blood. 2010)
- How I use hydroxyurea to treat young patients with sickle cell anemia. (Ware RE. Blood2010)
- STOP Trial – Stroke Prevention Trial in Sickle Cell Anemia (STOP): extended follow-up and final results (Lee et al. Blood. 2006)
- Silent cerebral infarcts: a review on a prevalent and progressive cause of neurologic injury in sickle cell anemia. (DeBaun et al. Blood. 2012)
- Acute chest syndrome in sickle cell disease: clinical presentation and course. Cooperative Study of Sickle Cell Disease. (Vichinsky et al. Blood. 1997).
- Prevention of Acute Chest Syndrome By Implementing a Standardized Process to Improve Incentive Spirometry Use in Hospitalized Patients with Sickle Cell Disease (Niss et al. Blood. 2017)
- Incentive spirometry to prevent acute pulmonary complications in sickle cell diseases. (Bellet et al. NEJM 1995)
- GotTransitions.org for Healthy Pediatric to Adult Transitions of Care https://www.gottransition.org/
- American Society of Hematology’s Transition Toolkit https://www.hematology.org/Clinicians/Priorities/5573.aspx
- NEJM Review Article on SCD (Piel et al. NEJM. 2017)
