HCLS/ClinicalObservationsInteroperability/MockedUpPatientData

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Mocked Up Patient Data

  1. Patient Record 1, Primary Condition: Diabetes

54-year-old man with diabetes was referred to the Hypertension Clinic in Jichi Medical School Hospital with symptoms of dizziness and orthostatic intolerance. In 2002, he started insulin therapy (Hemoglobin A1c 9 %), and in 2004, he was started on a once daily dose of valsartan 80 mg for hypertension. He sometimes complained of dizziness and fainting while standing. On 13 February 2005, he fell down while riding a bicycle. As the clinic BP was 84/60 mm Hg on 14 March, and the valsartan was stopped. He was referred to otolaryngology and neurology, but no significant abnormalities were detected.

On 19 April, he was referred to our Hypertension Clinic. Laboratory data were: hemoglobin A1c 8.6%, postprandial glucose 12.1 mmol/l, serum creatinine 84.0 mumol/l and urinary protein 2+. During a head-up tilt test, BP decreased 50 mm Hg systolic and 27 mm Hg diastolic, and the patient complained of dizziness (Figure 1a); orthostatic hypotension was diagnosed. After the atenolol was started, with a dose of 6.25 mg on 20 April, the dizziness was relieved, and the dose of atenolol was gradually increased.

A second head-up tilt test (12 July, Figure 1b) showed improvement of the average supine BP (decreased from 173/93 to 147/82 mm Hg) and pulse rate (PR – decreased from 100 to 67 bpm) without any symptoms. By contrast, the standing BP remained essentially unchanged (from 123/65 to 121/67 mm Hg). A second ambulatory BP monitoring showed significant reduction of sleep BP and PR (170/96 mm Hg, PR 93 bpm on 19 April; 149/85 mm Hg, PR 70 bpm on 13 July) and flattening of the circadian BP pattern. The variability (s.d.) of awake SBP/DBP was also reduced (from 18/12 to 12/8 mm Hg). A Valsalva maneuver showed a dysautonomic pattern (a lack of compensatory increase of PR in phase II and overshoot of BP in phase IV) and remained unchanged after the beta1-blocker therapy. Although a brain MRI showed multiple cerebral and cerebellar infarctions, single photon emission computed tomography (SPECT) did not show any ischemic lesions. Echocardiography showed a cardiac ejection fraction of 84%, but no left ventricular hypertrophy.

  1. Patient Record 2, Primary Condition: Diabetes (Full description: [1])

A 59-year-old woman was admitted to the hospital because of a nonhealing ulcer on the right heel and painful ulcers on the right thigh and hip.

The patient had been morbidly obese since early childhood; she had had type 2 diabetes mellitus and hypertension for 30 years and chronic renal insufficiency for 6. Painless ulcers had developed on the plantar surfaces of both heels 6 years earlier; those on the left side had healed with wound care and decreased weight bearing, but those on the right recurred when she resumed weight bearing. Four years before admission, she became unable to walk because of the ulcers, and moved to a long-term care facility. The chronic renal insufficiency progressed, and hemodialysis was begun 8 months before admission.

Three months before admission, a large area of purple discoloration and tenderness appeared along the back of her right lower thigh. This area subsequently ulcerated. Two months before admission, an ulcer developed over the greater trochanter of the right hip. Computed tomographic (CT) scanning of the thigh performed 3 months before admission was interpreted as showing cellulitis. Ultrasound imaging of the right leg was negative for deep venous thrombosis.

At approximately the same time, an ulcer on the right heel that had been present for about 2 years enlarged despite local care and attempts at primary closure. Approximately 2 months before admission, cultures of this ulcer yielded growth of Pseudomonas aeruginosa that was susceptible to ciprofloxacin and gentamicin, and intravenous therapy with these agents was started. Approximately 1 month before admission, a limited bone scan suggested the presence of osteomyelitis of the right calcaneus. Noninvasive vascular studies revealed an ankle–brachial index of 0.83 on the right and 0.90 on the left (normal, >0.96). Right calcaneal resection and placement of a vacuum-assisted closure dressing were performed 3 weeks before admission. Cultures of the resected bone grew the same species of P. aeruginosa, as well as Escherichia coli. Ciprofloxacin and gentamicin were continued.

On follow-up examinations, the heel ulcer did not improve; it became painful, with a purulent discharge, and an area of redness and swelling developed around it. The ulcers on the right hip and thigh increased in size. She was referred to the vascular-surgery clinic of this hospital 10 days before admission. At that time, there was an ulcer, 3 cm deep, on the right hip; a black, necrotic area, 15 cm by 15 cm, on the right posterior thigh; and a decubitus ulcer, 5 cm by 5 cm, on the right heel with exposed bone. None of the ulcers were purulent. Noninvasive vascular study of both legs was recommended. During the next 10 days, her physicians became increasingly concerned about sepsis from the foot ulcer, and she was sent to the emergency department of this hospital.

On examination, her vital signs were normal and the right lower leg was painful on any movement; the ulcers were unchanged. Examination by vascular ultrasound imaging was limited because of pain but revealed right distal popliteal-artery and tibial-artery disease with poor perfusion of the right foot. She was admitted to the hospital for a below-the-knee amputation of the right leg.

She did not have fever, chills, or sweats. She had diabetic retinopathy, neuropathy, and carotid and coronary atherosclerosis; carotid endarterectomy had been performed in the past because of transient ischemic attacks. She had had episodes of congestive heart failure with pulmonary edema but had no history of venous or arterial thromboses. She had no known allergies. She was unmarried, had a 16-year-old daughter, and had worked as a teacher until becoming disabled because of the ulcers. She had a 5-pack-year history of cigarette smoking, but had stopped smoking 5 years before admission. She did not drink alcohol or use illicit drugs. Her medications, in addition to the antibiotics, included simvastatin, furosemide, lisinopril, metoprolol, insulin, calcium carbonate, sevelamer, famotidine, gabapentin, narcotics for the pain from her ulcers, and laxatives.

On examination, the patient was an obese woman who was lethargic but arousable and oriented. She was in moderate discomfort from pain in her right leg. The axillary temperature was 37.4°C, the blood pressure 137/58 mm Hg, and the pulse regular at 72 beats per minute. Auscultation of the lungs and heart were normal; the abdomen was obese, with no tenderness or organomegaly. The carotid and radial pulses were normal. The left dorsalis pedis pulse was diminished, and the right was not palpable. An ulcer, 5 cm by 5 cm, overlying the trochanter of the right hip exposed the subcutaneous tissue without purulence or erythema. On the right posteromedial thigh, an exquisitely tender and violaceous indurated area, 15 cm by 15 cm, with black, dry ulcerations and surrounding tender erythema, extended from the popliteal fossa two thirds of the way up the thigh. An ulcer, 5 cm by 5 cm, on the right heel had cyanotic margins and a foul-smelling purulent base that exposed bone. An area of erythema that was tender to palpation spread from the heel about two thirds of the way up the lower leg. Laboratory test results are shown in Table 1.

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     Table 1. Results of Laboratory Tests on Admission.

During the evening, a repeated examination disclosed that the area of erythema on the lower leg now extended to the knee. The patient continued to have severe pain of the calf and posterior aspect of the thigh. A procedure was performed early the next morning.

Differential Diagnosis

Dr. Hasan Bazari: May we see the imaging studies?

Dr. Michael R. Jaff: The noninvasive vascular studies were performed with blood-pressure cuffs placed at the thigh, calf, ankle, foot, and toe levels. This examination tells us two things: the blood pressure at several levels of the leg, and the qualitative volume of arterial blood flowing to each level. These data are used to predict not only the presence and severity of peripheral arterial disease but also the segments of artery involved. The right thigh was not studied because of the ulceration. A normal plethysmographic pulse-volume recording is seen at the transmetatarsal region of the left foot (Figure 1), with a rapid upstroke, rapid downstroke, dicrotic notch, and return to baseline.

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     Figure 1. Vascular Studies of the Legs.

Plethysmographic pulse-volume recordings at five levels of the legs show multilevel peripheral arterial disease, which is more severe on the right than on the left. The normal deflection represents a waveform similar to an intraarterial pressure waveform, with a rapid upstroke, narrow waveform, rapid downstroke, dicrotic notch, and then completion of the waveform as it bows down to the baseline; the tracing from the left calf is closer to normal than that from the right calf. As peripheral arterial disease worsens, the dicrotic notch is lost, the waveform widens, and the amplitude decreases. Plethysmography of the digits shows complete loss of pulsatility at the level of the right great toe, suggesting advanced ischemia at the foot and toes.

The reported ankle–brachial indexes of 0.83 on the right and 0.90 on the left suggest minimal peripheral arterial disease. However, the arteries of the legs had diffuse calcification of the medial arterial layer, so that inflating the blood pressure cuff will not close the lumen, allowing for continuous arterial Doppler signals. In this setting, the ankle–brachial index is unreliable and cannot be used to determine the presence or severity of peripheral arterial disease. The plethysmographic waveforms, however, show significant peripheral arterial disease of both the femoral and the popliteal arteries at multiple levels of the right leg and at the level of the ankle, the metatarsals, and the digits (Figure 1).

Dr. Bazari: This 59-year-old woman with obesity, type 2 diabetes mellitus, hypertension, and end-stage renal disease presented with ulcers on her legs and feet and concern for sepsis. A chronic ulcer on the right heel was complicated by osteomyelitis and P. aeruginosa infection. During the three months before admission, new lesions developed, which were described as areas of purple discoloration and tenderness that appeared on the hip and thigh, and subsequently turned black and ulcerated. Her vital signs were stable on admission, but spreading erythema and pain associated with the heel ulcer suggested progression of infection. The laboratory tests showed a low albumin level and a high globulin level. She had anemia of chronic kidney disease as expected. I am aware of the diagnosis in this case, but the differential diagnosis was initially broad.

Ulcers on the Legs and Feet

The ulcers on the legs and feet may be related to this patient's chronic diseases or may have another cause. The differential diagnosis for ulcers on the legs and feet is shown in Table 2.1

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     Table 2. Differential Diagnosis of Ulcers on the Legs and Feet.

Vascular and Thrombotic Diseases

Ulcers due to arterial insufficiency typically occur on the toes, the heels, and the anterior shin and extend over the malleoli. Thromboangiitis obliterans (Buerger's disease) is a thrombotic disease seen in young male smokers that leads to limb loss if there is delay in cessation of smoking; this patient does not fit the demographic for Buerger's disease.2 Atheroembolic disease can cause ulcers in the legs, especially in the setting of peripheral arterial disease; embolization characteristically occurs after a vascular procedure, such as angiography or cardiac or vascular surgery.3 This patient clearly had peripheral arterial disease, which was probably a major factor in the heel ulceration.

Venous ulcerations typically occur above the lateral or medial malleoli. The patients usually have a history of venous insufficiency, stasis dermatitis, and a history of deep venous thrombosis. The distribution of this patient's ulcers is not characteristic of venous ulcers, there is no history of deep venous thrombosis, and there are no cutaneous findings to suggest venous stasis. Vasculitis and the antiphospholipid-antibody syndrome are unlikely in this patient, since she has no history of autoimmune disease and no systemic features of a vasculitis. I would have considered obtaining a hypercoagulable screen in the evaluation of this patient. Disseminated intravascular coagulation can lead to ischemia and loss of the arms and the legs; this typically occurs with disseminated infection or shock and would not be compatible with this patient's course.

Heparin-induced thrombocytopenia is caused by antibodies against complexes of platelet factor 4 and heparin and is increasingly recognized as a cause of thrombosis leading to loss of limbs. This disorder is associated with both venous and arterial thrombi.4 I would have inquired whether heparin products had been used as prophylaxis or treatment in this patient. Skin necrosis can occur in patients with an underlying genetic or acquired deficiency in protein C or protein S who begin therapy with warfarin.

Neuropathic Ulcers

Neuropathic ulcers occur under the metatarsal head, over the toe joints, under the heel, on the inner side of the first metatarsal head, and over the malleoli. We are not told about the neurologic examination, but this patient probably had diabetic neuropathy. The ulcers on this patient's heels are typical of neuropathic ulcers.

Infections

Osteomyelitis is clearly established in this case by the radiologic and microbiologic findings. Although osteomyelitis can be a cause of ulceration, in this case it is a consequence of the ulceration rather than a primary cause. The patient was treated with ciprofloxacin and gentamicin for a prolonged period, but the wound did not heal. Indolent infections such as tuberculosis can cause chronic nonhealing ulcers, and in immunosuppressed patients, fungal infections such as cryptococcus and coccidioidomycosis can lead to skin lesions that ulcerate. If these organisms had caused the heel ulcer, they probably would have been found at the time of this patient's recent surgery.

Other Disorders

Necrobiosis lipoidica diabeticorum produces skin lesions that typically occur over the pretibial area and heal with shallow hypopigmented scars. Erythema nodosum is a form of panniculitis that is often associated with underlying systemic diseases such as sarcoidosis and inflammatory bowel disease. Weber–Christian disease is another panniculitide and is sometimes associated with pancreatic disease. Pyoderma gangrenosum is associated with inflammatory bowel disease and cancer, neither of which this patient had; it typically presents as a single, purple, furunculoid abscess on the trunk that ulcerates.5 The ulcers have a characteristic heaped-up border, unlike our patient's ulcers. None of these disorders are likely to explain the ulcer on the heel, but necrobiosis lipoidica or Weber–Christian disease could be considered for the more recent ulcers on the hip and thigh. However, although the patient has diabetes, the location of these lesions and their size and painfulness is atypical of necrobiosis lipoidica, and she has no history of pancreatic disease to suggest Weber–Christian disease.

Calciphylaxis

The ulcers on this patient's thigh and hip, which appeared spontaneously and without trauma, are characteristic of calciphylaxis, or calcific uremic arteriopathy, as shown in another patient in Figure 2. The lesions associated with calciphylaxis are characteristically exquisitely tender and plaque-like, with a dusky or purple discoloration, and progress to ulceration with the formation of eschars.6 In a patient who receives dialysis, the appearance of progressive cutaneous lesions that are painful and ulcerate should invoke the diagnosis of calciphylaxis.

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     Figure 2. Calciphylaxis in Another Patient, Showing Irregular Areas of Dusky, Purplish Discoloration on the Skin of the Flank.

Patients with renal disease often have arterial, ocular, periarticular, soft-tissue, and visceral calcifications — these do not represent calciphylaxis.7 Calciphylaxis is a poorly understood disorder, predominantly of the skin, that has characteristic calcifications in the media of small to medium-size blood vessels of the dermis and subcutaneous fat and is associated with ischemia and skin necrosis.8 The relationship between uremia and vascular calcification was first described in 1898 by Bryant and White.9 The term calciphylaxis was originally coined by Selye,10 who showed that deposition of calcium occurred in the tissues of rats that were sensitized with vitamin D analogues, parathyroid hormone, and nephrotoxic insults when they were challenged with iron, other metal salts, glucocorticoids, or physical trauma.

Diagnosis of Calciphylaxis

Calciphylaxis is rare, although the prevalence in one study was 4.1% of patients receiving long-term hemodialysis.11 It is more common in women and girls than in men and boys (male:female ratio, 1:3); the age range is 6 months to 83 years.12 Most patients have some degree of kidney disease, although calciphylaxis has been reported in patients with cirrhosis,13 Crohn's disease,14 hyperparathyroidism,15 and cancer.16 The clinical features include hyperparathyroidism (in 80% of patients), hypercalcemia (in 20%), hyperphosphatemia (in 68%), and elevations in the calcium–phosphate product (in 33%).17 About a third of the patients have had renal transplants.18 The use of calcium-based phosphate binders and the use of vitamin D products to suppress the parathyroid hormone levels lead to higher levels of both calcium and calcium–phosphate products, causing premature vascular calcifications in patients with end-stage renal disease.7

The presence of hypercalcemia, hyperphosphatemia, elevations in the calcium–phosphate product, hyperparathyroidism, and exposure to calcium and vitamin D products should raise the suspicion of calciphylaxis. However, it is possible that the clinical syndrome may present well after the optimal confluence of conditions for the initiation of calciphylaxis, and the measurements at the time of clinical presentation may not represent the conditions required for initiation of the syndrome. This patient's serum calcium level was normal at 9.1 mg per deciliter (2.28 mmol per liter), but because of her albumin level of 2.4 g per deciliter, the ionized calcium level was probably at the upper limit of normal. She was also receiving calcium and vitamin D supplementation while she was receiving dialysis. She had a moderately elevated parathyroid hormone level. Some patients have low levels of protein C,19 protein S,20 or both,13 which may promote calciphylaxis by inducing a hypercoagulable state.

Clinical suspicion is the single most important feature of the diagnosis, and once one has seen a case, the evolution of the disease is unforgettable. The gold standard for the diagnosis of calciphylaxis is a biopsy of one of the lesions. Bone scanning has been recommended as an alternative to biopsy.21,22 It is unclear whether bone scans are as specifically diagnostic as a biopsy is, but they can be used when there is concern that a biopsy could lead to the formation of ulcers.

  1. Patient Record 3, Primary Condition: Diabetes Associated with Antipsychotic medications (Case Report and Review of Literature: [2])