ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (22)
Sickle cell disease in Adult
Other Resources UpToDate PubMed

Sickle cell disease in Adult

Contributors: Abhijeet Waghray MD, Vivian Wong MD, PhD, Susan Burgin MD, Eric Ingerowski MD, FAAP, Paritosh Prasad MD
Other Resources UpToDate PubMed

Synopsis

Sickle cell disease is a life-threatening autosomal recessive genetic disease that results in an abnormal β-globin chain of hemoglobin A (hemoglobin S). Sickle cell trait or hemoglobin S trait (heterozygote for mutation) rarely results in significant chronic symptoms. Hemoglobin S homozygotes (sickle cell disease) manifests in infancy and progresses to a chronic disabling disease.

The causative mutation in sickle cell disease primarily arose on the African continent, so, globally, most patients share an African ancestry. Additionally, there is a high incidence of sickle cell disease in individuals of Caribbean descent and those from Mediterranean countries such as Turkey, Greece, and Italy.

In the United States, sickle cell disease is the most frequently detected condition in newborn-screening programs, regardless of ethnicity. Originally, as a result of the transatlantic slave trade from Africa, nearly all sickle cell disease patients in the United States are Black.

Hemoglobin S has diminished solubility, especially when there is low oxygen tension. This diminished solubility results in the characteristic sickle shape of the affected red blood cells, leading to hemolysis and adherence to vascular endothelium, which leads to vascular occlusion, coagulation activation, and subsequent ischemia and tissue necrosis.

Acute presentations include vasoocclusive crises (painful episodes of microvascular occlusion that involve joints, bones, and internal organs such as the spleen, liver, kidneys, and central nervous system; see sickle cell acute pain crisis and acute chest syndrome), hematologic crises (due to pooling of blood in the enlarged spleen), and infectious crises (result from functional asplenia, predisposing to infections from encapsulated organisms).

These painful crises cause significant suffering and stigmatization for sickle cell patients, who are often unjustly described as drug seekers and accused of faking their pain. This results in inadequate treatment, as well as added stress and suffering, leading many patients to avoid care altogether. Without adequate treatment, sickle cell disease can affect any organ and is associated with decreased quality of life and a shortened life span.

Chronic clinical manifestations of disease include hemolytic anemia and a variety of systemic symptoms and signs that occur as a result of microvascular occlusion (eg, ischemia, necrosis, splenic autoinfarction). 

Leg ulcers, which can be extremely painful, are considered a marker of disease severity. The shins, dorsal feet, Achilles tendon, or ankles are frequent sites of involvement, as these are areas with little subcutaneous tissue and thin overlying skin with decreased blood flow. Ulcer formation may be spontaneous or may result from local trauma. Sickle cell ulcers are more common in males.

Factors that predispose to ulcer formation are:
  • Vessel obstruction by sickle cells
  • Increased venous and capillary pressure
  • Secondary bacterial infection
  • Decreased oxygen carrying capacity of the blood, leading to peripheral ischemic changes in the skin

Codes

ICD10CM:
D57.819 – Other sickle-cell disorders with crisis, unspecified

SNOMEDCT:
127040003 – Sickle cell anemia

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Leg ulcers:

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:03/28/2018
Last Updated:05/27/2021
Copyright © 2021 VisualDx®. All rights reserved.
Sickle cell disease in Adult
Sickle cell disease : Bone pain, Arthralgia, Limb pain, RBC decreased, Recurring episodes
Clinical image of Sickle cell disease
A healed ulcer showing a superficial crust and surrounding deep pink scarring at the ankle.
Copyright © 2021 VisualDx®. All rights reserved.