Malpractice case against several physicians reveals missed diagnosis

This is a case of a 52-year-old female nuclear physicist. After her death, her husband filed medical legal malpractice suits against several physicians for failing to make a timely diagnosis.

Four years before death, she developed severe cellulitis of a lower extremity, without evidence of prior trauma or skin disruptions. She had recent episodes of sinus infections, but no other significant past medical problems were noted at this time. The workup included a normal CBC with a hemoglobin level of 15.2 g/dL, normal renal function and urinalysis. Serum protein electrophoresis was without a monoclonal peak. Immunoglobulin demonstrated modest decreases of IgG, IgA and IgM.

One year later, she developed a new sinus infection, and a further history was obtained. The patient had been diagnosed with sarcoidosis about 10 years before, based on a skin biopsy that demonstrated non-caseating granuloma and mild enlargement of calcified mediastinal nodes. Pulmonary function studies were normal. A CBC and a metabolic panel were normal. A urinalysis was normal, except for 3+ proteinuria, and a renal ultrasound was normal. Immunoglobulin levels were repeated and a further decrease in IgG and IgA was noted, with IgM less than 14 mg/dL.

A bone marrow aspirate was attempted but not obtained. A marrow biopsy demonstrated no clonal infiltrate. Immunofixation of the biopsy specimen showed no clonal abnormalities, but it was a poor specimen.

One year later, 2 years before death, the patient developed new complaints of bilateral hand pain with dysesthesias, plus shoulder pain. Hand X-ray showed mild wrist joint thickening, and nerve conduction studies were consistent with bilateral carpal tunnel syndrome. A CBC was normal, and the hemoglobin level was now 12 g/dL. A 24-hour urine analysis demonstrated 1.5 g of protein with a normal creatinine.

Carpal tunnel release surgery was performed without complication. The patient suffered increasing muscular weakness, especially in thighs and shoulder. Because of hip and shoulder pain, the patient was referred to a rheumatologist. Rheumatoid factor and other autoimmune serologies were negative. Bone films demonstrated small bony lucencies of the humerus, femur and pubic bone. The radiologist report stated, “Consistent with sarcoid, but metastatic disease should be considered.” Pulmonary function and chest X-rays were unchanged.

Weakness remarkably progressed to the point where she became wheelchair-bound. She developed hoarseness and dysphagia, which made it impossible for her to swallow solid foods. An ENT consult demonstrated laryngeal thickening, but no biopsy was obtained. During her last 6 months of life, she lost 30 lb. She was finally admitted to a prominent hospital, where a definitive diagnostic test was performed on day 1 and was validated by another definitive test 4 days later. Despite this, the patient died of inanition and sepsis, despite a PEG placement and initiation of appropriate therapies.

Questions:

• What is your diagnosis and when should it have been made?
• What was the definitive test that was performed on the first day?
• What subspecialist besides the rheumatologist and the pulmonologist should have been involved?
• Can her muscular weakness, carpal tunnel syndrome, proteinuria and her ENT symptoms be related to and explained by her primary disease?
• Why was the original marrow biopsy not more informative? What was her probable diagnosis at the time of the original biopsy?
• Because the patient lived in Iowa, was the diagnosis of sarcoidosis rigorous or should another diagnosis have been considered 10 years before her death?
• Was the patient’s profession related to the diagnosis?

The legal outcome: Ten years after death, a jury trial was finally obtained. The jury decided that there was no malpractice. The jury was persuaded because the diagnosis had not been considered by several doctors, including two subspecialty internists (rheumatologist and pulmonologist) and an oncologist on the staff of a rehabilitation hospital who made the diagnosis of “combined variable immunoglobulin deficiency” 4 months before her death. – by Emily Shafer

– Editor’s note: This is the first of an occasional series in which our editors share interesting medicolegal cases that exemplify the types of litigations that may involve the hem/onc profession. We invite our readers to submit their case suggestions to editor@hemonctoday.com.

Answers

The patient had light chain multiple myeloma.

• The test that validated the diagnosis was a urine electrophoresis.
• A hematologist/oncologist would have made the appropriate diagnosis.
• The muscular weakness, carpal tunnel syndrome and ENT symptoms can be explained by the patient developing amyloidosis with amyloid infiltrates in carpal tunnels and vaso nervosa of shoulder and pelvic girdle nerves and the hypopharynx.
• The normal bone marrow specimen 2 years before death was not an appropriate sample for immunofixation at a time when the patient had smoldering myeloma with panhypogammaglobulinemia.
• The diagnosis of sarcoidosis was based on a skin biopsy and was not rigorous because the patient was living in an endemic area for histoplasmosis, which was more likely to produce calcified mediastinal nodes than sarcoidosis.
• People with large radiation exposure, such as nuclear physicists, have increased incidence of developing myeloma. Note that physicists at Los Alamos developing the atomic bomb have a high incidence of myeloma.

Panhypogammaglobulinema, bony lucencies, nephrosis, bilateral carpal tunnel syndrome; what were they thinking? The medical expert for the plaintiff discovered that the ‘oncologist’ who saw the patient in a rehabilitation hospital shortly before death not only was not boarded in oncology, but also was not a credentialed internist either. In any case, it is surprising that two actual internists (rheumatologist and pulmonologist) did not suspect the diagnosis, but the jury forgave them despite testimony that the patient had a better than 50% chance of surviving 5 to 7 years with chemotherapy and bone marrow transplantation.

– Harry S. Jacob, MD, FRCPath (Hon)

HemOnc Today Chief Medical Editor

Disclosure: Dr. Jacob reports no relevant financial disclosures.