Lost and Found: Misdiagnosis of AIDS-Related Bone Marrow Suppression As Neutropenic Fever and Benign Ethnic Neutropenia in a Patient With Congenital HIV

TL;DR

A patient with untreated congenital HIV showed severe neutropenia and fever, which were misdiagnosed until AIDS-related bone marrow suppression was identified.

Contribution

This case highlights a new phenotype of HIV patients with delayed AIDS complications due to ART discontinuation and low healthcare literacy.

Findings

Untreated HIV can lead to severe neutropenia and pancytopenia due to bone marrow suppression.

Misdiagnosis is common when neutropenia is attributed to benign ethnic neutropenia or co-infections like tuberculosis.

Non-adherence to ART and poor healthcare literacy contribute to delayed diagnosis of AIDS-related complications.

Abstract

Neutropenia is a relatively uncommon but notable secondary effect of HIV infection. While the various hematopoietic effects of HIV and AIDS are well-described in the literature, high-quality evidence directly linking neutropenia with mortality in HIV-infected patients remains limited. The multifactorial etiology of neutropenia complicates its diagnosis, particularly when it occurs secondary to HIV. We present the case of a 35-year-old African American male with congenital HIV, who presented with severe neutropenia accompanied by a fever in the context of untreated HIV. The initial differential diagnosis was broad, including benign ethnic neutropenia (given the patient’s African American ethnicity), tuberculosis (given the potential for anti-tuberculosis therapy to cause neutropenia and its commonality as a co-infection in HIV patients), sepsis-related neutropenia, and AIDS-related bone marrow suppression. However, through further workup, it became apparent that HIV-related bone marrow suppression ultimately led to pancytopenia. This case highlights how HIV patient non-adherence to antiretroviral therapy (ART) and hematologic abnormalities complicate the diagnosis of hematopoietic abnormalities from HIV. It also discusses how vertical transmission and abrupt ART discontinuation create a new phenotype of HIV patients with delayed presentations of AIDS-related complications. This patient’s presentation also provides insight into the consequences of untreated HIV following the self-discontinuation of long-term HIV management therapy due to low healthcare literacy and loss of follow-up. The patient's clinical course, laboratory findings, imaging studies, and treatment outcomes are discussed, emphasizing the need for timely diagnosis and a multidisciplinary approach to care while exploring potential barriers to care in different social contexts.

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