INTRODUCTION
Pseudohyperaldosteronism, or Liddle syndrome, is an autosomal dominant condition characterized by early-onset hypertension often associated with hypokalemia and metabolic alkalosis. It is secondary to a mutation in the renal epithelial sodium channel resulting in increased sodium reabsorption and potassium secretion.1 The underlying etiology of hypertension in these patients is often missed, resulting in decades of poorly controlled hypertension. Other well-known associated symptoms are a result of the disordered electrolyte regulation, including weakness, fatigue, and cardiac disturbances. The syndrome is exceedingly rare, with identified families/pedigrees numbering in the 70s worldwide.2
CASE REPORT
The authors report a novel association between Liddle syndrome and Martorell hypertensive ischemic leg ulcer. The case details and associated images are published with the patient's permission.
A 69-year-old woman with Liddle syndrome, diagnosed through gene sequencing in her 60s, presented with a 3-month history of a painful, progressive, necrotic ulcer over her left Achilles tendon area (Figure 1). She had previous cerebrovascular accidents that left her with gait and balance deficits on her left side. She had a regular exercise and strengthening routine that she strictly maintained until the Achilles ulcer developed, after which she could not walk without assistance. Her ulcer was initially managed conservatively with oral antibiotics and local wound care.
Physical examination was notable for adequate large-vessel inflow (palpable dorsalis pedis and posterior tibial pulses), necrotic eschar overlying the Achilles tendon with purple livid edges, and exquisite pain and tenderness. Given intractable pain, she underwent necrosectomy, wedge biopsy, and healing by secondary intention after declining split-thickness skin grafting (Figure 2). During debridement, it was evident that the necrosis extended to the subcutaneous level throughout the wound, and the paratenon was spared. Pathologic analysis revealed subcutaneous arteriolosclerosis with medial calcification consistent with a diagnosis of Martorell ulcer.
The patient was initially treated with negative-pressure wound therapy postnecrosectomy; however, it aggravated her pain and was not a sustainable treatment option. She was then treated with a combination of antiseptic soaks, hydrogel, and silicone-backed bordered foam dressings changed every 2 days. She was seen every 1 to 2 weeks in the wound center postoperatively, and her ulcer was healed 12 weeks later.
Despite her severe pain, the patient strongly desired to avoid opioid analgesia and general anesthesia, leading providers to employ a multimodal, patient-centered approach for pain management. She received femoral and sciatic nerve blocks preoperatively, and they were continued for 3 days postoperation. Afterward, she reported a significant reduction in severity, as well as a change in quality, of pain relative to before surgery. Preoperation, she said the pain was so severe that "I would hear someone screaming in pain, and then realize it was me." Postoperation, she described a change from the "achy and ill feeling of infection" to "the sharp pain of healing."
This patient reported three factors were critical to her successful recovery: regular appointments with a supportive and encouraging NP at her wound care clinic; careful positioning and immobilization of the wound site at home; and finally, her personal goal to be "the fittest invalid" by continuing to exercise both her body and mind (patient interview conducted by E. Malphrus, January 2018).
DISCUSSION
Martorell ulcer is a rare, underdiagnosed condition, first described in 1945.3 It is characterized by subcutaneous arteriolosclerosis, rather than large-vessel occlusion, and classically appears over the dorsolateral lower extremity or Achilles tendon. Patients present with constant pain out of proportion to examination findings but a normal ankle-brachial index. The patient's medical history often includes long-standing hypertension and diabetes and usually affects women in their 50s, 60s, and 70s. Physical examination is significant for a progressive, necrotic area with surrounding livedo reticularis and pain that is not exacerbated or relieved by change in activity or position.4 The excruciating pain that patients experience is secondary to subcutaneous infarction in the region of the ulcer, even though perfusion to more distal aspects of the extremity may be clinically normal. This pain is often dramatically improved after surgery.
Although Martorell ulcers are often diagnosed in patients with hypertension and diabetes, there are a range of etiologies providers should consider in the differential diagnosis, including peripheral vascular disease, venous insufficiency, pyoderma gangrenosum, and calciphylaxis. Calciphylaxis, also called calcific uremic arteriolopathy, presents a particular diagnostic challenge because it and Martorell ulcer share the same histopathology. They are distinguished by the root cause of arterial calcification: end-stage renal disease in calciphylaxis versus chronic hypertension in Martorell ulcer.5,6 Although Martorell ulcers and calciphylaxis are both treated surgically, other entities that appear grossly similar, such as pyoderma gangrenosum, are treated with systemic corticosteroids and immunosuppression.7
Because Martorell ulcer is a rare syndrome, it is challenging, although important, to characterize associated phenotypes and associated comorbidities in patients affected by pseudohyperaldosteronism. In this patient, development of a Martorell ulcer can be attributed to her long history of hypertension, complicated by comorbid diabetes. Although her BP was well controlled in previous years, BP control is not known to prevent occurrence or reoccurrence of these ulcers.7
CONCLUSIONS
To the authors' knowledge, this is the first association between Liddle syndrome and Martorell ulcer described in the literature. Given the rarity of both diagnoses, early identification and diagnosis of nonhealing wounds in this patient population are imperative to minimize morbidity and expedite healing.
REFERENCES