HIV and achalasia

Oesophageal symptomatology is common during the course of infection with HIV [1]. Various aetiologies have been described as a cause of symptoms, including candida, cytomegalovirus, herpes simplex virus, idiopathic ulceration and non-specific motility disorders in patients with opportunistic infections of the oesophagus [2]. It has also been suggested that infection with HIV itself may be a direct cause of persistent symptoms [3]. Apart from Chagas disease, no other infectious agents have been definitively implicated in the pathogenesis of achalasia, which is believed to be caused by a loss of inhibitory neurones containing nitrous oxide and vasoactive intestinal peptide, leading to an increased lower oesophageal sphincter pressure stimulated by unopposed cholinergic neurones causing dysphagia for liquids and solids [4]. Diagnosis is suspected on barium swallow or endoscopy, when a dilated oesophagus is noted and confirmed by oesophageal manometry if necessary. In this report we describe two young male patients with confirmed early HIV infection, who were diagnosed with achalasia as the cause of dysphagia. Patient 1 A 48-year-old African office worker was referred to our clinic for further investigation of a suspected oesophageal motility disorder after being admitted to another hospital for presumed aspiration pneumonia. The patient's wife was known to be HIV positive. After pre-test counselling, the patient was also tested for HIV, which was confirmed positive. His CD4 cell count at the time was 535 cells/μl. The rest of his haematological work-up was normal. Gastroscopy performed at our institution showed a dilated, fluid-filled oesophagus. The oesophagogastric junction did not open spontaneously, but the scope passed through easily. Biopsies at the oesophagogastric junction were normal. Oesophageal manometry showed simultaneous contractions of the oesophagus with failure of lower oesophageal sphincter relaxation diagnostic of achalasia. The patient was referred for surgery and underwent laparoscopic Heller's myotomy. He is currently doing well. Patient 2 A 30-year-old African finance manager was diagnosed with HIV 6 years previously. He was not taking antiretroviral agents. His last CD4 cell count was 347 cells/μl. He had been well until 6 months before his self-referral to our institution complaining of food 'getting stuck' after swallowing. After gastroscopy elsewhere, he had been diagnosed with 'possible oesophageal candida'; however, there was no histological confirmation of this, and fluconazole 200 mg daily had been prescribed with no response. At the time of his presentation to our clinic he had difficulty swallowing both liquids and solids, with occasional epigastic discomfort. A barium study was performed and considered diagnostic of achalasia: the entire oesophagus was dilated and tapered to a point at the oesophagogastric junction (Fig. 1). There were peristaltic waves only in the proximal oesophagus. The contrast only passed through the cardia into the stomach after 10 min.Fig. 1: Barium swallow of patient 2 showing the characteristic radiographic features of achalasia: a dilated oesophagus that terminates in a beak-like narrowing caused by the persistently contracted lower oesophageal sphincter.A repeat gastroscopy confirmed a dilated oesophagus and biopsies of the oesophagogastric junction were normal. The patient was referred for laparoscopic Heller's myotomy, and is also currently doing well. Achalasia was first described in 1642 by Sir Thomas Willis in a patient whose symptoms were treated with dilation with a whale bone [5]. However, these two patients are the first cases reported, to our knowledge, of achalasia diagnosed in HIV-positive patients. It is accepted that HIV is a neurotrophic virus [6]. In patients with HIV, a loss of autonomic nerves in the jejunal mucosa has been shown [7]. Motor abnormalities have been identified in the oesophagus [2,3], stomach [8], and small intestine [7]. We propose that HIV merits further consideration as a possible infectious cause of achalasia by a similar pathogenesis as described in the autonomic nerve cells in the jejunum. Further research is required into the effects of HIV on the gastrointestinal system. Both these patients were referred for primary surgical intervention, as they were relatively young, had well-preserved immune function, and were in good physical condition. Without ready access to highly active antiretroviral therapy for state patients in South Africa at the time, we felt the future risks of (possible) repeated oesophageal dilations or botox injections, when the HIV may have progressed, did not justify delaying primary surgical treatment [9]. This case report serves to highlight that HIV patients with ongoing dysphagia (especially if fluconalzole is prescribed empirically and symptoms persist) must be investigated further, and motility disorders should be considered in the differential diagnosis.